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Sample records for anchored reference genetic

  1. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  2. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  3. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... a rare disorder with approximately 100 cases described worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  4. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected ... What information about a genetic condition can statistics provide? Why are some genetic ...

  5. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... PubMed Nograles KE, Brasington RD, Bowcock AM. New insights into the pathogenesis and genetics of psoriatic arthritis. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  6. Genetics Home Reference: Meckel syndrome

    Science.gov (United States)

    ... genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  7. Genetics Home Reference

    Science.gov (United States)

    ... changes Browse A–Z Chromosomes & mtDNA Autosomes, sex chromosomes, and mitochondrial DNA (mtDNA) Browse Help Me Understand Genetics Learn about the basics of human genetics Browse New & Updated Pages New Pages Omenn ...

  8. Acute Myeloid Leukemia - Genetics Home Reference [Genetics Home Reference (Conditions)

    Lifescience Database Archive (English)

    Full Text Available Conditions Genes Chromosomes Handbook Glossary Resources Conditions > Acute Myeloid...te myeloid leukemia with mutated CEBPA Fanconi anemia You may also search Genetics Home Reference for Acut...e Myeloid Leukemia for additional information. Published : October 27, 2014 Acute Myeloid Leukemia - Genetics Home Reference ...

  9. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of ... Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. Epub 2007 Aug 30. ...

  10. Genetics Home Reference: macrozoospermia

    Science.gov (United States)

    ... biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to ...

  11. Genetics Home Reference: schizophrenia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions schizophrenia schizophrenia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Schizophrenia is a mental health disorder classified as a ...

  12. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions hemophilia hemophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hemophilia is a bleeding disorder that slows the blood ...

  13. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions preeclampsia preeclampsia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Preeclampsia is a complication of pregnancy in which affected ...

  14. Genetics Home Reference: cholangiocarcinoma

    Science.gov (United States)

    ... certain lifestyle factors, including smoking, alcohol use, and obesity, may also contribute to the risk of developing cholangiocarcinoma . Studies suggest that a combination of genetic, environmental, and lifestyle factors influence whether a person will develop cholangiocarcinoma . However, ...

  15. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... the neck can cause nerve damage known as Horner syndrome , which leads to drooping eyelids, small pupils, ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Horner Syndrome Encyclopedia: Neuroblastoma Health Topic: Neuroblastoma Genetic and ...

  16. Genetics Home Reference: galactosemia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions galactosemia galactosemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Galactosemia is a disorder that affects how the body ...

  17. Genetics Home Reference: schwannomatosis

    Science.gov (United States)

    ... areas where there are no known tumors. The pain associated with this condition ranges from mild to ... Additional genetic changes (somatic mutations) that are acquired during a person's lifetime ...

  18. Genetics Home Reference: warfarin resistance

    Science.gov (United States)

    ... novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment. J Thromb ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    ... disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. Biochimie. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  20. Genetics Home Reference: Vohwinkel syndrome

    Science.gov (United States)

    ... of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  1. Genetics Home Reference: Larsen syndrome

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  2. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

    ... rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  3. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  4. Genetics Home Reference: Brody myopathy

    Science.gov (United States)

    ... Kuppevelt TH, Ferlini A, Tomelleri G. Brody disease: insights into biochemical features of SERCA1 and identification of ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  5. Genetics Home Reference: hidradenitis suppurativa

    Science.gov (United States)

    ... JN. γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis. J Invest Dermatol. 2013 Mar; ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  6. Genetics Home Reference: Wolfram syndrome

    Science.gov (United States)

    ... V. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  7. Acute - Glossary Entry - Genetics Home Reference [Genetics Home Reference (Glossary)

    Lifescience Database Archive (English)

    Full Text Available | F | G | H | I | J | K | L | M | N | O | P | Q-R | S | T | U | V | W | X | Y-Z Acute Definition(s) Having ...ding Medical Terminology . Published : October 27, 2014 Acute - Glossary Entry - Genetics Home Reference ...

  8. Genetics Home Reference: Pyle disease

    Science.gov (United States)

    ... Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  9. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... 0b013e32830e6fb2. Review. Citation on PubMed Shaker M. New insights into the allergic march. Curr Opin Pediatr. 2014 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  10. Genetics Home Reference: vibratory urticaria

    Science.gov (United States)

    ... in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected ... Genetic Testing (2 links) Genetic Testing Registry: Vibratory angioedema Genetic Testing Registry: Vibratory urticaria General Information from ...

  11. Genetics Home Reference: Aicardi syndrome

    Science.gov (United States)

    ... that there are approximately 4,000 affected individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  12. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... unknown. The condition has been found in populations worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  13. Genetics Home Reference: fragile X syndrome

    Science.gov (United States)

    ... Van Esch H. The Fragile X premutation: new insights and clinical consequences. Eur J Med Genet. 2006 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  14. Genetics Home Reference: type 1 diabetes

    Science.gov (United States)

    ... or Free article on PubMed Central Morahan G. Insights into type 1 diabetes provided by genetic analyses. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  15. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... PubMed Ho CY. New Paradigms in Hypertrophic Cardiomyopathy: Insights from Genetics. Prog Pediatr Cardiol. 2011 May;31( ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  16. Genetics Home Reference: primary carnitine deficiency

    Science.gov (United States)

    ... Majdalani M. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. Clin Genet. 2014 Feb; ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  17. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Friedreich ataxia Friedreich ataxia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Friedreich ataxia is a genetic condition that affects the nervous ...

  18. Genetics Home Reference: allergic asthma

    Science.gov (United States)

    ... 1 link) American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...

  19. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions osteogenesis imperfecta osteogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Osteogenesis imperfecta (OI) is a group of genetic disorders that ...

  20. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions spondylocostal dysostosis spondylocostal dysostosis Enable ...

  1. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... Genetic Testing (1 link) Genetic Testing Registry: Familial hypokalemia-hypomagnesemia General Information from MedlinePlus (5 links) Diagnostic ... my area? Other Names for This Condition familial hypokalemia-hypomagnesemia Gitelman's syndrome GS hypokalemia-hypomagnesemia, primary renotubular, ...

  2. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Netherton syndrome Netherton syndrome Enable ...

  3. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions breast cancer breast cancer Enable ...

  4. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... genetic conditions more common in particular ethnic groups? Genetic Changes Researchers believe that variations in particular genes may increase the risk of myasthenia gravis , but the identity of these genes is unknown. Many factors likely ...

  5. Genetics Home Reference: Blau syndrome

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. The NOD2 gene ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  6. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Acute Pancreatitis Encyclopedia: Chronic Pancreatitis Health Topic: Pancreatitis Genetic and Rare Diseases Information ...

  7. Genetics Home Reference: mycosis fungoides

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions mycosis fungoides mycosis fungoides Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Mycosis fungoides is the most common form of a ...

  8. Genetics Home Reference: episodic ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions episodic ataxia episodic ataxia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Episodic ataxia is a group of related conditions that affect ...

  9. Genetics Home Reference: Cohen syndrome

    Science.gov (United States)

    ... presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003 Jun;72(6): ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  10. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  11. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions trisomy 13 trisomy 13 Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Trisomy 13 , also called Patau syndrome, is a chromosomal ...

  12. Genetics Home Reference: Fanconi anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Fanconi anemia Fanconi anemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fanconi anemia is a condition that affects many parts of ...

  13. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  14. Genetics Home Reference: Laron syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  15. Genetics Home Reference: Alzheimer disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Alzheimer disease Alzheimer disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  16. Genetics Home Reference: dentinogenesis imperfecta

    Science.gov (United States)

    ... abnormalities. Type I occurs in people who have osteogenesis imperfecta , a genetic condition in which bones are brittle ... Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta , which is caused by mutations in one of ...

  17. Genetics Home Reference: Klinefelter syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Klinefelter syndrome Klinefelter syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Klinefelter syndrome is a chromosomal condition that affects male physical ...

  18. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions alpha thalassemia alpha thalassemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Alpha thalassemia is a blood disorder that reduces the production ...

  19. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions beta thalassemia beta thalassemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Beta thalassemia is a blood disorder that reduces the production ...

  20. Genetics Home Reference: bipolar disorder

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions bipolar disorder bipolar disorder Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Bipolar disorder is a mental health condition that causes extreme ...

  1. Genetics Home Reference: celiac disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions celiac disease celiac disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Celiac disease is a condition in which the immune ...

  2. Genetics Home Reference: clopidogrel resistance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions clopidogrel resistance clopidogrel resistance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Clopidogrel resistance is a condition in which the drug ...

  3. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions hereditary angioedema hereditary angioedema Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary angioedema is a disorder characterized by recurrent episodes of ...

  4. Genetics Home Reference: Gaucher disease

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Gaucher disease Gaucher disease Enable Javascript to view the expand/collapse ... cerebroside lipidosis syndrome Gaucher splenomegaly Gaucher syndrome Gaucher's ... deficiency glucocerebrosidosis glucosyl cerebroside lipidosis ...

  5. Genetics Home Reference: Carney complex

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Carney complex Carney complex Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Carney complex is a disorder characterized by an increased risk ...

  6. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hashimoto thyroiditis is a condition that affects the function of ...

  7. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions lactose intolerance lactose intolerance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Lactose intolerance is an impaired ability to digest lactose, ...

  8. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  9. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... raised as girls and have a female gender identity. Because they do not have functional ovaries, affected ... called isolated Swyer syndrome . However, depending on the genetic cause, Swyer syndrome may also occur along with ...

  10. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... D; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium, Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Ärlsetig L, Martin J, ...

  11. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  12. Genetics Home Reference: Asperger syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  13. Genetics Home Reference: lung cancer

    Science.gov (United States)

    ... neoplasm of lung malignant tumor of lung pulmonary cancer pulmonary carcinoma pulmonary neoplasms respiratory carcinoma Related Information How are genetic conditions and genes named? Additional Information & Resources ... Encyclopedia: Lung Cancer--Non-Small Cell Encyclopedia: Lung Cancer--Small Cell ...

  14. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Parkinson disease Parkinson disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Parkinson disease is a progressive disorder of the nervous system. ...

  15. Genetics Home Reference: Horner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Horner syndrome Horner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Horner syndrome is a disorder that affects the eye ...

  16. Genetics Home Reference: prothrombin thrombophilia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions prothrombin thrombophilia prothrombin thrombophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Prothrombin thrombophilia is an inherited disorder of blood clotting . Thrombophilia ...

  17. Genetics Home Reference: Kawasaki disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Kawasaki disease Kawasaki disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Kawasaki disease is a sudden and time-limited (acute) illness ...

  18. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions amelogenesis imperfecta amelogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Amelogenesis imperfecta is a disorder of tooth development. This ...

  19. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions ulcerative colitis ulcerative colitis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Ulcerative colitis is a chronic disorder that affects the digestive ...

  20. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions myotonic dystrophy myotonic dystrophy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Myotonic dystrophy is part of a group of inherited disorders ...

  1. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... for This Page Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. ... RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in ...

  2. Genetics Home Reference: Ewing sarcoma

    Science.gov (United States)

    ... and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone ... of genetic change, called a somatic mutation, is not inherited. The protein produced from ...

  3. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions spina bifida spina bifida Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Spina bifida is a condition in which the neural tube, ...

  4. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Crohn disease Crohn disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Crohn disease is a complex, chronic disorder that primarily affects ...

  5. Genetics Home Reference: Lujan syndrome

    Science.gov (United States)

    ... of the Brain (image) Encyclopedia: Hypotonia Health Topic: Developmental Disabilities Genetic and Rare Diseases Information Center (1 link) Lujan syndrome Educational Resources (4 links) ... Association on Intellectual and Developmental Disabilities Resource list from the University of Kansas ...

  6. Genetics Home Reference: familial hyperaldosteronism

    Science.gov (United States)

    ... Martinez-Aguayo A, Fardella C. Genetics of hypertensive syndrome. Horm Res. 2009;71(5):253-9. doi: 10.1159/000208798. Epub 2009 Apr 1. Review. Citation on PubMed Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero ...

  7. Genetics Home Reference: propionic acidemia

    Science.gov (United States)

    ... Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears to be more common in several populations worldwide, including the Inuit population of Greenland, some Amish communities, and Saudi Arabians. Related Information What information about a genetic ...

  8. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... 5(6):513-24. Review. Citation on PubMed Harvey RJ, Topf M, Harvey K, Rees MI. The genetics of hyperekplexia: more ... 2):125-8. Citation on PubMed Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas ...

  9. Genetics Home Reference: Alexander disease

    Science.gov (United States)

    ... up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. J Hum Genet. 2013 Apr;58(4):183-8. doi: 10.1038/jhg.2012.152. Epub 2013 Jan 31. Citation on ... GS. Alexander disease: ventricular garlands and abnormalities of the medulla and ...

  10. Genetics Home Reference: giant axonal neuropathy

    Science.gov (United States)

    ... R. Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve. 2012 Aug;46( ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  11. Genetics Home Reference: Bardet-Biedl syndrome

    Science.gov (United States)

    ... Citation on PubMed Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  12. Genetics Home Reference: Bart-Pumphrey syndrome

    Science.gov (United States)

    ... of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  13. Genetics Home Reference: atelosteogenesis type 1

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  14. Genetics Home Reference: progressive external ophthalmoplegia

    Science.gov (United States)

    ... JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations. Cell Mol Life ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  15. Genetics Home Reference: polycystic kidney disease

    Science.gov (United States)

    ... ED. Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res. 2014 Jan; ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  16. Genetics Home Reference: Brooke-Spiegler syndrome

    Science.gov (United States)

    ... gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  17. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007 Apr ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Genetics Home Reference: Pelizaeus-Merzbacher disease

    Science.gov (United States)

    ... Garbern JY. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Genetics Home Reference: atelosteogenesis type 3

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  20. Genetics Home Reference: childhood myocerebrohepatopathy spectrum

    Science.gov (United States)

    ... JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations. Cell Mol Life ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  1. Genetics Home Reference: spondylocarpotarsal synostosis syndrome

    Science.gov (United States)

    ... affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  2. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... AV. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  3. Genetics Home Reference: fragile XE syndrome

    Science.gov (United States)

    ... AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  4. Genetics Home Reference: triosephosphate isomerase deficiency

    Science.gov (United States)

    ... Oláh J, Ovádi J. Triosephosphate isomerase deficiency: new insights into an enigmatic disease. Biochim Biophys Acta. 2009 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  5. A second-generation anchored genetic linkage map of the tammar wallaby (Macropus eugenii

    Directory of Open Access Journals (Sweden)

    Patel Hardip R

    2011-08-01

    Full Text Available Abstract Background The tammar wallaby, Macropus eugenii, a small kangaroo used for decades for studies of reproduction and metabolism, is the model Australian marsupial for genome sequencing and genetic investigations. The production of a more comprehensive cytogenetically-anchored genetic linkage map will significantly contribute to the deciphering of the tammar wallaby genome. It has great value as a resource to identify novel genes and for comparative studies, and is vital for the ongoing genome sequence assembly and gene ordering in this species. Results A second-generation anchored tammar wallaby genetic linkage map has been constructed based on a total of 148 loci. The linkage map contains the original 64 loci included in the first-generation map, plus an additional 84 microsatellite loci that were chosen specifically to increase coverage and assist with the anchoring and orientation of linkage groups to chromosomes. These additional loci were derived from (a sequenced BAC clones that had been previously mapped to tammar wallaby chromosomes by fluorescence in situ hybridization (FISH, (b End sequence from BACs subsequently FISH-mapped to tammar wallaby chromosomes, and (c tammar wallaby genes orthologous to opossum genes predicted to fill gaps in the tammar wallaby linkage map as well as three X-linked markers from a published study. Based on these 148 loci, eight linkage groups were formed. These linkage groups were assigned (via FISH-mapped markers to all seven autosomes and the X chromosome. The sex-pooled map size is 1402.4 cM, which is estimated to provide 82.6% total coverage of the genome, with an average interval distance of 10.9 cM between adjacent markers. The overall ratio of female/male map length is 0.84, which is comparable to the ratio of 0.78 obtained for the first-generation map. Conclusions Construction of this second-generation genetic linkage map is a significant step towards complete coverage of the tammar wallaby

  6. A genetically anchored physical framework for Theobroma cacao cv. Matina 1-6

    Directory of Open Access Journals (Sweden)

    Kuhn David N

    2011-08-01

    Full Text Available Abstract Background The fermented dried seeds of Theobroma cacao (cacao tree are the main ingredient in chocolate. World cocoa production was estimated to be 3 million tons in 2010 with an annual estimated average growth rate of 2.2%. The cacao bean production industry is currently under threat from a rise in fungal diseases including black pod, frosty pod, and witches' broom. In order to address these issues, genome-sequencing efforts have been initiated recently to facilitate identification of genetic markers and genes that could be utilized to accelerate the release of robust T. cacao cultivars. However, problems inherent with assembly and resolution of distal regions of complex eukaryotic genomes, such as gaps, chimeric joins, and unresolvable repeat-induced compressions, have been unavoidably encountered with the sequencing strategies selected. Results Here, we describe the construction of a BAC-based integrated genetic-physical map of the T. cacao cultivar Matina 1-6 which is designed to augment and enhance these sequencing efforts. Three BAC libraries, each comprised of 10× coverage, were constructed and fingerprinted. 230 genetic markers from a high-resolution genetic recombination map and 96 Arabidopsis-derived conserved ortholog set (COS II markers were anchored using pooled overgo hybridization. A dense tile path consisting of 29,383 BACs was selected and end-sequenced. The physical map consists of 154 contigs and 4,268 singletons. Forty-nine contigs are genetically anchored and ordered to chromosomes for a total span of 307.2 Mbp. The unanchored contigs (105 span 67.4 Mbp and therefore the estimated genome size of T. cacao is 374.6 Mbp. A comparative analysis with A. thaliana, V. vinifera, and P. trichocarpa suggests that comparisons of the genome assemblies of these distantly related species could provide insights into genome structure, evolutionary history, conservation of functional sites, and improvements in physical map

  7. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness General Information from MedlinePlus ( ...

  8. Genetics Home Reference: Klippel-Trenaunay syndrome

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    ... age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Klippel ...

  9. Genetics Home Reference: Langerhans cell histiocytosis

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    ... also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Langerhans ...

  10. Genetics Home Reference: chylomicron retention disease

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    ... a rare condition with approximately 40 cases described worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  11. Genetics Home Reference: microvillus inclusion disease

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    ... been reported in Europe, although this condition occurs worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  12. Genetics Home Reference: Meesmann corneal dystrophy

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    ... condition has been reported in individuals and families worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  13. Genetics Home Reference: juvenile Paget disease

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    ... rare; about 50 affected individuals have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  14. Genetics Home Reference: factor X deficiency

    Science.gov (United States)

    ... deficiency occurs in approximately 1 per million individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  15. Genetics Home Reference: Laing distal myopathy

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    ... Several families with the condition have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  16. Genetics Home Reference: 3-M syndrome

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    ... 50 individuals with this disorder have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  17. Genetics Home Reference: Smith-Lemli-Opitz syndrome

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    ... Citation on PubMed Yu H, Patel SB. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Genetics Home Reference: Rabson-Mendenhall syndrome

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    ... Management Genetic Testing (1 link) Genetic Testing Registry: Pineal hyperplasia AND diabetes mellitus syndrome General Information from ... area? Other Names for This Condition Mendenhall syndrome pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia, insulin- ...

  19. Genetics Home Reference: Li-Fraumeni syndrome

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    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Li-Fraumeni syndrome Li-Fraumeni ...

  20. Genetics Home Reference: amyotrophic lateral sclerosis

    Science.gov (United States)

    ... Lattante S, Ciura S, Rouleau GA, Kabashi E. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD). Trends Genet. 2015 May;31(5):263-73. ...

  1. Genetics Home Reference: primary ciliary dyskinesia

    Science.gov (United States)

    ... inversus totalis, they are often said to have Kartagener syndrome. Approximately 12 percent of people with primary ... Registry: Ciliary dyskinesia, primary, 17 Genetic Testing Registry: Kartagener syndrome Genetic Testing Registry: Primary ciliary dyskinesia Other ...

  2. Genetics Home Reference: guanidinoacetate methyltransferase deficiency

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions guanidinoacetate methyltransferase deficiency guanidinoacetate methyltransferase ...

  3. Genetics Home Reference: Lennox-Gastaut syndrome

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    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Lennox-Gastaut syndrome Lennox-Gastaut ...

  4. Genetics Home Reference: GM3 synthase deficiency

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    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions GM3 synthase deficiency GM3 synthase ...

  5. Genetics Home Reference: FOXG1 syndrome

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    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions FOXG1 syndrome FOXG1 syndrome Enable ...

  6. Genetics Home Reference: isolated lissencephaly sequence

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    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions isolated lissencephaly sequence isolated lissencephaly ...

  7. Genetics Home Reference: benign familial neonatal seizures

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions BFNS benign familial neonatal seizures ...

  8. Genetics Home Reference: protein C deficiency

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ... my area? Other Names for This Condition hereditary thrombophilia due to protein C deficiency PROC deficiency Related ...

  9. Genetics Home Reference: familial cold autoinflammatory syndrome

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  10. Genetics Home Reference: multiple endocrine neoplasia

    Science.gov (United States)

    ... Tumor Encyclopedia: Pheochromocytoma Encyclopedia: Pituitary Tumor Health Topic: Endocrine Diseases Health Topic: Parathyroid Disorders Health Topic: Pheochromocytoma Health Topic: Thyroid Cancer Genetic ...

  11. Pointing and Reference in Sign Language and Spoken Language: Anchoring vs. Identifying

    Science.gov (United States)

    Barberà, Gemma; Zwets, Martine

    2013-01-01

    In both signed and spoken languages, pointing serves to direct an addressee's attention to a particular entity. This entity may be either present or absent in the physical context of the conversation. In this article we focus on pointing directed to nonspeaker/nonaddressee referents in Sign Language of the Netherlands (Nederlandse Gebarentaal,…

  12. Genetics Home Reference: 47,XYY syndrome

    Science.gov (United States)

    ... chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism . Learn ... cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome ...

  13. Genetics Home Reference: triple X syndrome

    Science.gov (United States)

    ... chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism. Learn ... cells contributes to the genetic makeup of a child, the child will have an extra X chromosome ...

  14. Genetics Home Reference: erythrokeratodermia variabilis et progressiva

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions EKVP erythrokeratodermia variabilis et progressiva Enable Javascript to view the expand/collapse ... PDF Open All Close All Description Erythrokeratodermia variabilis et progressiva ( EKVP ) is a skin disorder that is ...

  15. Genetics Home Reference: deafness and myopia syndrome

    Science.gov (United States)

    ... First Test: Hearing Loss EyeSmart: Eyeglasses for Vision Correction GeneReview: Deafness and Myopia Syndrome Harvard Medical School ... in Children Health Topic: Newborn Screening Health Topic: Refractive Errors Genetic and Rare Diseases Information Center (1 link) ...

  16. Genetics Home Reference: spinocerebellar ataxia type 3

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    ... Me Understand Genetics Home Health Conditions SCA3 spinocerebellar ataxia type 3 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 3 ( SCA3 ) is a condition characterized by ...

  17. Genetics Home Reference: ataxia-telangiectasia

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    ... Me Understand Genetics Home Health Conditions ataxia-telangiectasia ataxia-telangiectasia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Ataxia-telangiectasia is a rare inherited disorder that affects ...

  18. Genetics Home Reference: spinocerebellar ataxia type 2

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions SCA2 spinocerebellar ataxia type 2 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 2 ( SCA2 ) is a condition characterized by ...

  19. Genetics Home Reference: ataxia neuropathy spectrum

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions ataxia neuropathy spectrum ataxia neuropathy spectrum Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Ataxia neuropathy spectrum is part of a group of ...

  20. Genetics Home Reference: spinocerebellar ataxia type 6

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions SCA6 spinocerebellar ataxia type 6 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 6 ( SCA6 ) is a condition characterized by ...

  1. Genetics Home Reference: spinocerebellar ataxia type 1

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions SCA1 spinocerebellar ataxia type 1 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 1 ( SCA1 ) is a condition characterized by ...

  2. Genetics Home Reference: Bietti crystalline dystrophy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Bietti crystalline dystrophy Bietti crystalline dystrophy Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Bietti crystalline dystrophy is a disorder in which numerous ...

  3. Genetics Home Reference: Tay-Sachs disease

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Tay-Sachs disease Tay-Sachs disease Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Tay-Sachs disease is a rare inherited disorder that ...

  4. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  5. Genetics Home Reference: familial HDL deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions familial HDL deficiency familial HDL deficiency Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Familial HDL deficiency is a condition characterized by low levels ...

  6. Genetics Home Reference: dentatorubral-pallidoluysian atrophy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions DRPLA dentatorubral-pallidoluysian atrophy Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Dentatorubral-pallidoluysian atrophy , commonly known as DRPLA , is a progressive brain ...

  7. Genetics Home Reference: focal dermal hypoplasia

    Science.gov (United States)

    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  8. Genetics Home Reference: MECP2 duplication syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions MECP2 duplication syndrome MECP2 duplication syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description MECP2 duplication syndrome is a condition that occurs almost exclusively ...

  9. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... Home Health Conditions tuberous sclerosis complex tuberous sclerosis complex Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Tuberous sclerosis complex is a genetic disorder characterized by the growth ...

  10. Genetics Home Reference: small fiber neuropathy

    Science.gov (United States)

    ... particular ethnic groups? Genetic Changes Mutations in the SCN9A or SCN10A gene can cause small fiber neuropathy . ... pieces (the alpha subunits) of sodium channels. The SCN9A gene instructs the production of the alpha subunit ...

  11. Genetics Home Reference: systemic lupus erythematosus

    Science.gov (United States)

    ... Genetics Home Health Conditions systemic lupus erythematosus systemic lupus erythematosus Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Systemic lupus erythematosus (SLE) is a chronic disease that causes ...

  12. Genetics Home Reference: nonsyndromic hearing loss

    Science.gov (United States)

    ... Genetics Home Health Conditions nonsyndromic hearing loss nonsyndromic hearing loss Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Nonsyndromic hearing loss is a partial or total loss of hearing ...

  13. Genetics Home Reference: Schwartz-Jampel syndrome

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    ... Understand Genetics Home Health Conditions Schwartz-Jampel syndrome Schwartz-Jampel syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Schwartz-Jampel syndrome is a rare condition characterized by ...

  14. Genetics Home Reference: eosinophil peroxidase deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions eosinophil peroxidase deficiency eosinophil peroxidase deficiency Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Eosinophil peroxidase deficiency is a condition that affects certain white ...

  15. Genetics Home Reference: Meier-Gorlin syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions Meier-Gorlin syndrome Meier-Gorlin syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Meier-Gorlin syndrome is a condition primarily characterized by short ...

  16. Genetics Home Reference: Peters plus syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions Peters plus syndrome Peters plus syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Peters plus syndrome is an inherited condition that is characterized ...

  17. Genetics Home Reference: intervertebral disc disease

    Science.gov (United States)

    ... Ikegawa S. The genetics of common degenerative skeletal disorders: osteoarthritis and degenerative disc disease. Annu Rev Genomics Hum ... article on PubMed Central Reviewed : October 2016 Published : March 21, 2017 The resources on this site should ...

  18. Genetics Home Reference: familial osteochondritis dissecans

    Science.gov (United States)

    ... dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is ... Short Stature Health Topic: Cartilage Disorders Health Topic: Joint Disorders Health Topic: Osteoarthritis Genetic and Rare Diseases Information ...

  19. Genetics Home Reference: lymphedema-distichiasis syndrome

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions lymphedema-distichiasis syndrome lymphedema-distichiasis syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Lymphedema-distichiasis syndrome is a condition that affects the ...

  20. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... Genetics Home Health Conditions PMAH primary macronodular adrenal hyperplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Primary macronodular adrenal hyperplasia ( PMAH ) is a disorder characterized by multiple lumps ( ...

  1. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  2. Genetics Home Reference: acute promyelocytic leukemia

    Science.gov (United States)

    ... bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and ... Institute of Diabetes and Digestive and Kidney Diseases: Hematuria Educational Resources (7 links) Atlas of Genetics and ...

  3. Genetics Home Reference: isodicentric chromosome 15 syndrome

    Science.gov (United States)

    ... isodicentric chromosome 15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. Other behaviors resemble features of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  4. Genetics Home Reference: Smith-Magenis syndrome

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    ... Genetics Home Health Conditions Smith-Magenis syndrome Smith-Magenis syndrome Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description Smith-Magenis syndrome is a developmental disorder that affects many ...

  5. Genetics Home Reference: chronic myeloid leukemia

    Science.gov (United States)

    ... this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and ... cells. This type of genetic change, called a somatic mutation, is not inherited. The function of the ...

  6. Genetics Home Reference: Mowat-Wilson syndrome

    Science.gov (United States)

    ... Diseases Health Topic: Congenital Heart Defects Health Topic: Developmental Disabilities Genetic and Rare Diseases Information Center (1 link) Mowat-Wilson syndrome Additional NIH Resources (2 ... Intellectual and Developmental Disabilities National Institute of Diabetes and Digestive and ...

  7. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  8. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... Home Health Conditions juvenile idiopathic arthritis juvenile idiopathic arthritis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  9. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals...... from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short...... insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications...

  10. Comparative Haploid Genetic Screens Reveal Divergent Pathways in the Biogenesis and Trafficking of Glycophosphatidylinositol-Anchored Proteins

    Directory of Open Access Journals (Sweden)

    Eric M. Davis

    2015-06-01

    Full Text Available Glycophosphatidylinositol-anchored proteins (GPI-APs play essential roles in physiology, but their biogenesis and trafficking have not been systematically characterized. Here, we took advantage of the recently available haploid genetics approach to dissect GPI-AP pathways in human cells using prion protein (PrP and CD59 as model molecules. Our screens recovered a large number of common and unexpectedly specialized factors in the GPI-AP pathways. PIGN, PGAP2, and PIGF, which encode GPI anchor-modifying enzymes, were selectively isolated in the CD59 screen, suggesting that GPI anchor composition significantly influences the biogenesis of GPI-APs in a substrate-dependent manner. SEC62 and SEC63, which encode components of the ER-targeting machinery, were selectively recovered in the PrP screen, indicating that they do not constitute a universal route for the biogenesis of mammalian GPI-APs. Together, these comparative haploid genetic screens demonstrate that, despite their similarity in overall architecture and subcellular localization, GPI-APs follow markedly distinct biosynthetic and trafficking pathways.

  11. Genetics Home Reference: Loeys-Dietz syndrome

    Science.gov (United States)

    ... MW. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. Citation on PubMed Reviewed : March 2017 Published : March 21, 2017 The resources on ...

  12. Genetics Home Reference: leptin receptor deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics Disease InfoSearch: Leptin receptor deficiency MalaCards: obesity, morbid, due to leptin ...

  13. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David;

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  14. Genetics Home Reference: auriculo-condylar syndrome

    Science.gov (United States)

    ... Topic: Jaw Injuries and Disorders Health Topic: Temporomandibular Joint Dysfunction Genetic and Rare Diseases Information Center (1 link) ... Association of Oral and Maxillofacial Surgeons: The Temporomandibular Joint Disease InfoSearch: Dysgnathia Complex MalaCards: auriculo-condylar syndrome Merck ...

  15. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David;

    2015-01-01

    insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications...

  16. Genetics Home Reference: hystrix-like ichthyosis with deafness

    Science.gov (United States)

    ... of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  17. Genetics Home Reference: glycogen storage disease type 0

    Science.gov (United States)

    ... PubMed Central Groop L, Orho-Melander M. New insights into impaired muscle glycogen synthesis. PLoS Med. 2008 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  18. Genetics Home Reference: keratitis-ichthyosis-deafness syndrome

    Science.gov (United States)

    ... of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Genetics Home Reference: non-alcoholic fatty liver disease

    Science.gov (United States)

    ... PubMed Central Kahali B, Halligan B, Speliotes EK. Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  20. Genetics Home Reference: Alström syndrome

    Science.gov (United States)

    ... Alstrom Syndrome Girard D, Petrovsky N. Alström syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  1. Construction of Reference Chromosome-Scale Pseudomolecules for Potato: Integrating the Potato Genome with Genetic and Physical Maps

    Science.gov (United States)

    Sharma, Sanjeev Kumar; Bolser, Daniel; de Boer, Jan; Sønderkær, Mads; Amoros, Walter; Carboni, Martin Federico; D’Ambrosio, Juan Martín; de la Cruz, German; Di Genova, Alex; Douches, David S.; Eguiluz, Maria; Guo, Xiao; Guzman, Frank; Hackett, Christine A.; Hamilton, John P.; Li, Guangcun; Li, Ying; Lozano, Roberto; Maass, Alejandro; Marshall, David; Martinez, Diana; McLean, Karen; Mejía, Nilo; Milne, Linda; Munive, Susan; Nagy, Istvan; Ponce, Olga; Ramirez, Manuel; Simon, Reinhard; Thomson, Susan J.; Torres, Yerisf; Waugh, Robbie; Zhang, Zhonghua; Huang, Sanwen; Visser, Richard G. F.; Bachem, Christian W. B.; Sagredo, Boris; Feingold, Sergio E.; Orjeda, Gisella; Veilleux, Richard E.; Bonierbale, Merideth; Jacobs, Jeanne M. E.; Milbourne, Dan; Martin, David Michael Alan; Bryan, Glenn J.

    2013-01-01

    The genome of potato, a major global food crop, was recently sequenced. The work presented here details the integration of the potato reference genome (DM) with a new sequence-tagged site marker−based linkage map and other physical and genetic maps of potato and the closely related species tomato. Primary anchoring of the DM genome assembly was accomplished by the use of a diploid segregating population, which was genotyped with several types of molecular genetic markers to construct a new ~936 cM linkage map comprising 2469 marker loci. In silico anchoring approaches used genetic and physical maps from the diploid potato genotype RH89-039-16 (RH) and tomato. This combined approach has allowed 951 superscaffolds to be ordered into pseudomolecules corresponding to the 12 potato chromosomes. These pseudomolecules represent 674 Mb (~93%) of the 723 Mb genome assembly and 37,482 (~96%) of the 39,031 predicted genes. The superscaffold order and orientation within the pseudomolecules are closely collinear with independently constructed high density linkage maps. Comparisons between marker distribution and physical location reveal regions of greater and lesser recombination, as well as regions exhibiting significant segregation distortion. The work presented here has led to a greatly improved ordering of the potato reference genome superscaffolds into chromosomal “pseudomolecules”. PMID:24062527

  2. A High-Resolution InDel (Insertion–Deletion) Markers-Anchored Consensus Genetic Map Identifies Major QTLs Governing Pod Number and Seed Yield in Chickpea

    Science.gov (United States)

    Srivastava, Rishi; Singh, Mohar; Bajaj, Deepak; Parida, Swarup K.

    2016-01-01

    Development and large-scale genotyping of user-friendly informative genome/gene-derived InDel markers in natural and mapping populations is vital for accelerating genomics-assisted breeding applications of chickpea with minimal resource expenses. The present investigation employed a high-throughput whole genome next-generation resequencing strategy in low and high pod number parental accessions and homozygous individuals constituting the bulks from each of two inter-specific mapping populations [(Pusa 1103 × ILWC 46) and (Pusa 256 × ILWC 46)] to develop non-erroneous InDel markers at a genome-wide scale. Comparing these high-quality genomic sequences, 82,360 InDel markers with reference to kabuli genome and 13,891 InDel markers exhibiting differentiation between low and high pod number parental accessions and bulks of aforementioned mapping populations were developed. These informative markers were structurally and functionally annotated in diverse coding and non-coding sequence components of genome/genes of kabuli chickpea. The functional significance of regulatory and coding (frameshift and large-effect mutations) InDel markers for establishing marker-trait linkages through association/genetic mapping was apparent. The markers detected a greater amplification (97%) and intra-specific polymorphic potential (58–87%) among a diverse panel of cultivated desi, kabuli, and wild accessions even by using a simpler cost-efficient agarose gel-based assay implicating their utility in large-scale genetic analysis especially in domesticated chickpea with narrow genetic base. Two high-density inter-specific genetic linkage maps generated using aforesaid mapping populations were integrated to construct a consensus 1479 InDel markers-anchored high-resolution (inter-marker distance: 0.66 cM) genetic map for efficient molecular mapping of major QTLs governing pod number and seed yield per plant in chickpea. Utilizing these high-density genetic maps as anchors, three major

  3. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  4. High-resolution genetic mapping of maize pan-genome sequence anchors

    Science.gov (United States)

    In addition to single-nucleotide polymorphisms, structural variation is abundant in many plant genomes. The structural variation across a species can be represented by a ‘pan-genome’, which is essential to fully understand the genetic control of phenotypes. However, the pan-genome’s complexity hinde...

  5. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    DEFF Research Database (Denmark)

    Wirth, J; Nothwang, H G; van der Maarel, S

    1999-01-01

    Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on ave...... of disease in seemingly balanced chromosome rearrangements that are associated with a disease phenotype. Our region specific FISH probes, which are available to MCN members, can be a powerful tool in clinical cytogenetics and positional cloning.......Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs...

  6. Genetics Home Reference: oral-facial-digital syndrome

    Science.gov (United States)

    ... Registry: Oral-facial-digital syndrome Genetic Testing Registry: Orofacial-digital syndrome III Genetic Testing Registry: Orofacial-digital syndrome IV Genetic Testing Registry: Orofaciodigital syndrome ...

  7. Genetics Home Reference: glycogen storage disease type I

    Science.gov (United States)

    ... Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type ... practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1. Citation ...

  8. Genetics Home Reference: 2q37 deletion syndrome

    Science.gov (United States)

    ... is unknown. Approximately 100 cases have been reported worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: Allan-Herndon-Dudley syndrome

    Science.gov (United States)

    ... individuals affected by this condition have been reported worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Genetics Home Reference: McLeod neuroacanthocytosis syndrome

    Science.gov (United States)

    ... is rare; approximately 150 cases have been reported worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  11. Genetics Home Reference: hand-foot-genital syndrome

    Science.gov (United States)

    ... few families with the condition have been reported worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  12. Genetics Home Reference: fatty acid hydroxylase-associated neurodegeneration

    Science.gov (United States)

    ... classified as having a separate disorder called spastic paraplegia 35. People with mutations in this gene resulting ... Genetic Testing (1 link) Genetic Testing Registry: Spastic paraplegia 35 Other Diagnosis and Management Resources (1 link) ...

  13. Genetics Home Reference: myoclonic epilepsy with ragged-red fibers

    Science.gov (United States)

    ... Encyclopedia: Lipoma Encyclopedia: Optic nerve atrophy Encyclopedia: Peripheral Neuropathy Health Topic: Dementia Health Topic: Epilepsy Health Topic: Genetic Brain Disorders Health Topic: Mitochondrial Diseases Genetic and Rare Diseases Information Center (1 ...

  14. Genetics Home Reference: 15q13.3 microdeletion

    Science.gov (United States)

    ... syndrome Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (4 links) Encyclopedia: Autism Encyclopedia: Schizophrenia Health Topic: Developmental Disabilities Health Topic: Seizures Genetic ...

  15. Genetics Home Reference: Koolen-de Vries syndrome

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Koolen-de Vries syndrome Koolen- ...

  16. Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions ADPEAF autosomal dominant partial epilepsy ...

  17. Genetics Home Reference: malignant migrating partial seizures of infancy

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions malignant migrating partial seizures of ...

  18. Genetics Home Reference: neonatal onset multisystem inflammatory disease

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  19. Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

    Science.gov (United States)

    ... Encyclopedia: Optic nerve atrophy Encyclopedia: Thiamine Health Topic: Anemia Health Topic: Diabetes Health Topic: Hearing Problems in Children Genetic and Rare Diseases Information Center (1 link) ...

  20. Human genetic variation database, a reference database of genetic variations in the Japanese population

    Science.gov (United States)

    Higasa, Koichiro; Miyake, Noriko; Yoshimura, Jun; Okamura, Kohji; Niihori, Tetsuya; Saitsu, Hirotomo; Doi, Koichiro; Shimizu, Masakazu; Nakabayashi, Kazuhiko; Aoki, Yoko; Tsurusaki, Yoshinori; Morishita, Shinichi; Kawaguchi, Takahisa; Migita, Osuke; Nakayama, Keiko; Nakashima, Mitsuko; Mitsui, Jun; Narahara, Maiko; Hayashi, Keiko; Funayama, Ryo; Yamaguchi, Daisuke; Ishiura, Hiroyuki; Ko, Wen-Ya; Hata, Kenichiro; Nagashima, Takeshi; Yamada, Ryo; Matsubara, Yoichi; Umezawa, Akihiro; Tsuji, Shoji; Matsumoto, Naomichi; Matsuda, Fumihiko

    2016-01-01

    Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic genetic variation from 1208 Japanese individuals through a collaborative effort, and aggregated the data into a prevailing catalog. In total, we identified 156 622 previously unreported variants. The allele frequencies for the majority (88.8%) were lower than 0.5% in allele frequency and predicted to be functionally deleterious. In addition, we have constructed a Japanese-specific major allele reference genome by which the number of unique mapping of the short reads in our data has increased 0.045% on average. Our results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants. All the collected data were centralized to a newly developed database to serve as useful resources for exploring pathogenic variations. Public access to the database is available at http://www.genome.med.kyoto-u.ac.jp/SnpDB/. PMID:26911352

  1. Anchor Modeling

    Science.gov (United States)

    Regardt, Olle; Rönnbäck, Lars; Bergholtz, Maria; Johannesson, Paul; Wohed, Petia

    Maintaining and evolving data warehouses is a complex, error prone, and time consuming activity. The main reason for this state of affairs is that the environment of a data warehouse is in constant change, while the warehouse itself needs to provide a stable and consistent interface to information spanning extended periods of time. In this paper, we propose a modeling technique for data warehousing, called anchor modeling, that offers non-destructive extensibility mechanisms, thereby enabling robust and flexible management of changes in source systems. A key benefit of anchor modeling is that changes in a data warehouse environment only require extensions, not modifications, to the data warehouse. This ensures that existing data warehouse applications will remain unaffected by the evolution of the data warehouse, i.e. existing views and functions will not have to be modified as a result of changes in the warehouse model.

  2. Genetics Home Reference: familial idiopathic basal ganglia calcification

    Science.gov (United States)

    ... idiopathic basal ganglia calcification ( FIBGC , formerly known as Fahr disease) is a condition characterized by abnormal deposits of ... on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet. 1999 Sep;65(3): ...

  3. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    Science.gov (United States)

    ... Genetics Home Health Conditions ARCA1 autosomal recessive cerebellar ataxia type 1 Enable Javascript to view the expand/ ... Open All Close All Description Autosomal recessive cerebellar ataxia type 1 ( ARCA1 ) is a condition characterized by ...

  4. Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions NARP neuropathy, ataxia, and retinitis pigmentosa Enable Javascript to view the ... Download PDF Open All Close All Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that ...

  5. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions IOSCA infantile-onset spinocerebellar ataxia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Infantile-onset spinocerebellar ataxia ( IOSCA ) is a progressive disorder that affects the ...

  6. Genetics Home Reference: thrombocytopenia-absent radius syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions TAR syndrome thrombocytopenia-absent radius syndrome Enable Javascript to view the expand/collapse ... PDF Open All Close All Description Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of ...

  7. Genetics Home Reference: GRN-related frontotemporal dementia

    Science.gov (United States)

    ... Neumann M, Kwong LK, Trojanowski JQ, Lee VM, Grossman M. Clinical, genetic, and pathologic characteristics of patients ... Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek ...

  8. Genetics Home Reference: X-linked cardiac valvular dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition congenital valvular heart disease CVD1 filamin-A-associated myxomatous mitral valve disease ... Valves (image) Encyclopedia: Mitral Valve Prolapse Health Topic: Heart Valve Diseases Health Topic: Mitral Valve Prolapse Genetic and Rare ...

  9. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    Science.gov (United States)

    ... Congenital Heart Defects Health Topic: Hearing Disorders and Deafness Genetic and Rare Diseases Information Center (1 link) ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome ...

  10. Genetics Home Reference: 9q22.3 microdeletion

    Science.gov (United States)

    ... the characteristic features of a genetic condition called Gorlin syndrome . Many individuals with a 9q22.3 microdeletion ... 3 microdeletions also cause the characteristic features of Gorlin syndrome (also known as nevoid basal cell carcinoma ...

  11. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... 3 links) Health Topic: Bone Diseases Health Topic: Osteoarthritis Health Topic: Scoliosis Genetic and Rare Diseases Information ... 42. Citation on PubMed Reviewed : June 2008 Published : March 21, 2017 The resources on this site should ...

  12. Genetics Home Reference: Bannayan-Riley-Ruvalcaba syndrome

    Science.gov (United States)

    ... a genetic condition characterized by a large head size ( macrocephaly ), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan- ...

  13. Genetics Home Reference: Hutchinson-Gilford progeria syndrome

    Science.gov (United States)

    ... Health Conditions Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome Enable Javascript to view the expand/collapse ... PDF Open All Close All Description Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the ...

  14. Genetics Home Reference: Pallister-Killian mosaic syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions Pallister-Killian mosaic syndrome Pallister-Killian mosaic syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Pallister-Killian mosaic syndrome is a developmental disorder that affects ...

  15. Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions hyperparathyroidism-jaw tumor syndrome hyperparathyroidism-jaw tumor syndrome Enable Javascript to view the ... boxes. Download PDF Open All Close All Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ...

  16. Genetics Home Reference: Beare-Stevenson cutis gyrata syndrome

    Science.gov (United States)

    ... Health Conditions Beare-Stevenson cutis gyrata syndrome Beare-Stevenson cutis gyrata syndrome Enable Javascript to view the ... Download PDF Open All Close All Description Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized ...

  17. A high-throughput strategy for screening of bacterial artificial chromosome libraries and anchoring of clones on a genetic map constructed with single nucleotide polymorphisms

    Directory of Open Access Journals (Sweden)

    Deal Karin R

    2009-01-01

    Full Text Available Abstract Background Current techniques of screening bacterial artificial chromosome (BAC libraries for molecular markers during the construction of physical maps are slow, laborious and often assign multiple BAC contigs to a single locus on a genetic map. These limitations are the principal impediment in the construction of physical maps of large eukaryotic genomes. It is hypothesized that this impediment can be overcome by screening multidimensional pools of BAC clones using the highly parallel Illumina GoldenGate™ assay. Results To test the efficacy of the Golden Gate assay in BAC library screening, multidimensional pools involving 302976 Aegilops tauschii BAC clones were genotyped for the presence/absence of specific gene sequences with multiplexed Illumina GoldenGate oligonucleotide assays previously used to place single nucleotide polymorphisms on an Ae. tauschii genetic map. Of 1384 allele-informative oligonucleotide assays, 87.6% successfully clustered BAC pools into those positive for a BAC clone harboring a specific gene locus and those negative for it. The location of the positive BAC clones within contigs assembled from 199190 fingerprinted Ae. tauschii BAC clones was used to evaluate the precision of anchoring of BAC clones and contigs on the Ae. tauschii genetic map. For 41 (95% assays, positive BAC clones were neighbors in single contigs. Those contigs could be unequivocally assigned to loci on the genetic map. For two (5% assays, positive clones were in two different contigs and the relationships of these contigs to loci on the Ae. tauschii genetic map were equivocal. Screening of BAC libraries with a simple five-dimensional BAC pooling strategy was evaluated and shown to allow direct detection of positive BAC clones without the need for manual deconvolution of BAC clone pools. Conclusion The highly parallel Illumina oligonucleotide assay is shown here to be an efficient tool for screening BAC libraries and a strategy for high

  18. Genetics Home Reference: ZAP70-related severe combined immunodeficiency

    Science.gov (United States)

    ... related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack ... Foundation Jeffrey Modell Foundation National Organization for Rare Disorders ... ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles ...

  19. Genetics Home Reference: 1q21.1 microdeletion

    Science.gov (United States)

    ... communication and social interaction, attention deficit hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia. Some people with a 1q21.1 ...

  20. Genetics Home Reference: mucolipidosis III alpha/beta

    Science.gov (United States)

    ... worsen slowly over time. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density ( ...

  1. A sugar beet (Beta vulgaris L.) reference FISH karyotype for chromosome and chromosome-arm identification, integration of genetic linkage groups and analysis of major repeat family distribution.

    Science.gov (United States)

    Paesold, Susanne; Borchardt, Dietrich; Schmidt, Thomas; Dechyeva, Daryna

    2012-11-01

    We developed a reference karyotype for B. vulgaris which is applicable to all beet cultivars and provides a consistent numbering of chromosomes and genetic linkage groups. Linkage groups of sugar beet were assigned to physical chromosome arms by FISH (fluorescent in situ hybridization) using a set of 18 genetically anchored BAC (bacterial artificial chromosome) markers. Genetic maps of sugar beet were correlated to chromosome arms, and North-South orientation of linkage groups was established. The FISH karyotype provides a technical platform for genome studies and can be applied for numbering and identification of chromosomes in related wild beet species. The discrimination of all nine chromosomes by BAC probes enabled the study of chromosome-specific distribution of the major repetitive components of sugar beet genome comprising pericentromeric, intercalary and subtelomeric satellites and 18S-5.8S-25S and 5S rRNA gene arrays. We developed a multicolor FISH procedure allowing the identification of all nine sugar beet chromosome pairs in a single hybridization using a pool of satellite DNA probes. Fiber-FISH was applied to analyse five chromosome arms in which the furthermost genetic marker of the linkage group was mapped adjacently to terminal repetitive sequences on pachytene chromosomes. Only on two arms telomere arrays and the markers are physically linked, hence these linkage groups can be considered as terminally closed making the further identification of distal informative markers difficult. The results support genetic mapping by marker localization, the anchoring of contigs and scaffolds for the annotation of the sugar beet genome sequence and the analysis of the chromosomal distribution patterns of major families of repetitive DNA.

  2. Using the Drosophila Melanogaster Genetics Reference Panel to Identify Toxicity Pathways for Toluene

    Science.gov (United States)

    Mechanistic information is needed to link effects of chemicals at molecular targets in high­ throughput screening assays to adverse outcomes in whole organisms. This study was designed to use the Drosophila Genetic Reference Panel (DGRP), a set of genetically well...

  3. Anchoring of proteins to lactic acid bacteria

    NARCIS (Netherlands)

    Leenhouts, K; Buist, Girbe; Kok, Jan

    1999-01-01

    The anchoring of proteins to the cell surface of lactic acid bacteria (LAB) using genetic techniques is an exciting and emerging research area that holds great promise for a wide variety of biotechnological applications. This paper reviews five different types of anchoring domains that have been exp

  4. Recollections of J.B.S. Haldane, with special reference to Human Genetics in India

    Directory of Open Access Journals (Sweden)

    Krishna R Dronamraju

    2012-01-01

    Full Text Available This paper is a brief account of the scientific work of J.B.S. Haldane (1892-1964, with special reference to early research in Human Genetics. Brief descriptions of Haldane′s background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.

  5. Influence of anchoring on miscarriage risk perception associated with amniocentesis.

    Science.gov (United States)

    Nuccio, Regina; Hashmi, S Shahrukh; Mastrobattista, Joan; Noblin, Sarah Jane; Refuerzo, Jerrie; Smith, Janice L; Singletary, Claire N

    2015-04-01

    One factor women consider when deciding whether to pursue amniocentesis is the risk of miscarriage. People use mechanisms like anchoring, or the prior belief regarding the magnitude of risk, as a frame of reference for new information. This study aimed to determine a woman's perception of miscarriage risk associated with amniocentesis before and after genetic counseling and to determine what factors anchor a woman's perception of miscarriage risk. One hundred thirteen women being seen for prenatal genetic counseling and possible amniocentesis at six Houston clinics participated in the two-part anonymous survey. While most women (56.7 %) perceived the risk as low or average pre-counseling and indicated the numeric risk of amniocentesis as amniocentesis had a significantly lower perception of the risk (p = 0.017) whereas those who declined amniocentesis were more likely to view the risk as high (p = 0.004). The only two anchoring factors that had an effect were having a friend or relative with a personal or family history of a genetic disorder (p = 0.001) and having a child already (p = 0.038); both were associated with a lower risk perception. The lack of significant factors may reflect the uniqueness of each patient's risk assessment framework and reinforces the importance of genetic counseling to elucidate individual concerns, particularly as non-invasive prenatal testing becomes more widely available and further complicates the prenatal testing landscape.

  6. Development of a 690 K SNP array in catfish and its application for genetic mapping and validation of the reference genome sequence

    Science.gov (United States)

    Zeng, Qifan; Fu, Qiang; Li, Yun; Waldbieser, Geoff; Bosworth, Brian; Liu, Shikai; Yang, Yujia; Bao, Lisui; Yuan, Zihao; Li, Ning; Liu, Zhanjiang

    2017-01-01

    Single nucleotide polymorphisms (SNPs) are capable of providing the highest level of genome coverage for genomic and genetic analysis because of their abundance and relatively even distribution in the genome. Such a capacity, however, cannot be achieved without an efficient genotyping platform such as SNP arrays. In this work, we developed a high-density SNP array with 690,662 unique SNPs (herein 690 K array) that were relatively evenly distributed across the entire genome, and covered 98.6% of the reference genome sequence. Here we also report linkage mapping using the 690 K array, which allowed mapping of over 250,000 SNPs on the linkage map, the highest marker density among all the constructed linkage maps. These markers were mapped to 29 linkage groups (LGs) with 30,591 unique marker positions. This linkage map anchored 1,602 scaffolds of the reference genome sequence to LGs, accounting for over 97% of the total genome assembly. A total of 1,007 previously unmapped scaffolds were placed to LGs, allowing validation and in few instances correction of the reference genome sequence assembly. This linkage map should serve as a valuable resource for various genetic and genomic analyses, especially for GWAS and QTL mapping for genes associated with economically important traits. PMID:28079141

  7. An ICA with reference approach in identification of genetic variation and associated brain networks

    Directory of Open Access Journals (Sweden)

    Jingyu eLiu

    2012-02-01

    Full Text Available To address the statistical challenges associated with genome-wide association studies, we present an independent component analysis (ICA with reference approach to target a specific genetic variation and associated brain networks. First, a small set of single nucleotide polymorphisms (SNPs are empirically chosen to reflect a feature of interest and these SNPs are used as a reference when applying ICA to a full genomic SNP array. After extracting the genetic component maximally representing the characteristics of the reference, we test its association with brain networks in functional magnetic resonance imaging (fMRI data. The method was evaluated on both real and simulated datasets. Simulation demonstrates that ICA with reference can extract a specific genetic factor, even when the variance accounted for by such a factor is so small that a regular ICA fails. Our real data application from 48 schizophrenia patients and 40 healthy controls include 300K SNPs and fMRI images in an auditory oddball task. Using SNPs with allelic frequency difference in two groups as a reference, we extracted a genetic component that maximally differentiates patients from controls (p<4×10-17, and discovered a brain functional network that was significantly associated with this genetic component (p<1×10-4. The regions in the functional network mainly locate in the thalamus, anterior and posterior cingulate gyri. The contributing SNPs in the genetic factor mainly fall into two clusters centered at chromosome 7q21 and chromosome 5q35. The findings from the schizophrenia application are in concordance with previous knowledge about brain regions and gene function. All together, the results suggest that the ICA with reference can be particularly useful to explore the whole genome to find a specific factor of interest and further study its effect on brain.

  8. Erythropoietin in the General Population : Reference Ranges and Clinical, Biochemical and Genetic Correlates

    NARCIS (Netherlands)

    Grote Beverborg, Niels; Verweij, Niek; Klip, IJsbrand T.; van der Wal, Haye H.; Voors, Adriaan A.; van Veldhuisen, Dirk J.; Gansevoort, Ron T.; Bakker, Stephan J. L.; van der Harst, Pim; van der Meer, Peter

    2015-01-01

    Background Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population. M

  9. Genetically modified organisms in food and feed : annual report 2012 of the Dutch National Reference Laboratory

    NARCIS (Netherlands)

    Scholtens-Toma, I.M.J.; Molenaar, B.; Zaaijer, S.; Prins, T.W.; Kok, E.J.

    2013-01-01

    This is the annual report of the Dutch Reference Laboratory (NRL) for Genetically Modified Food and Feed (RIKILT Wageningen UR). The report gives an overview of the NRL activities carried out in 2012. In 2012 the two Dutch Official Laboratories participated in several proficiency tests with good res

  10. Genetically modified organisms in food and feed : annual report 2010 of the Dutch National Reference Laboratory

    NARCIS (Netherlands)

    Scholtens-Toma, I.M.J.; Molenaar, B.; Zaaijer, S.; Voorhuijzen, M.M.; Prins, T.W.; Kok, E.J.

    2011-01-01

    This is the annual report of the Dutch National Reference Laboratory (NRL) for Genetically Modified Food and Feed (RIKILT - Institue of Food Safety). The report gives an overview of the NRL activities carried out in 2010. In 2010 RIKILT participated in one ring trial for inter laboratory validation

  11. Genetically modified organisms in food and feed : annual report of the Dutch National Reference Laboratory

    NARCIS (Netherlands)

    Scholtens-Toma, I.M.J.; Molenaar, B.; Zaaijer, S.; Voorhuijzen, M.M.; Prins, T.W.; Kok, E.J.

    2012-01-01

    This is the annual report of the Dutch National Reference Laboratory (NRL) for Genetically Modified Food and Feed (RIKILT - Institute of Food Safety). The report gives an overview of the NRL activities carried out in 2011. In 2011 both RIKILT and the Routine Field Laboratory of the Netherlands Food

  12. Assessment of genetic diversity in the sorghum reference set using EST-SSR markers.

    Science.gov (United States)

    Ramu, P; Billot, C; Rami, J-F; Senthilvel, S; Upadhyaya, H D; Ananda Reddy, L; Hash, C T

    2013-08-01

    Selection and use of genetically diverse genotypes are key factors in any crop breeding program to develop cultivars with a broad genetic base. Molecular markers play a major role in selecting diverse genotypes. In the present study, a reference set representing a wide range of sorghum genetic diversity was screened with 40 EST-SSR markers to validate both the use of these markers for genetic structure analyses and the population structure of this set. Grouping of accessions is identical in distance-based and model-based clustering methods. Genotypes were grouped primarily based on race within the geographic origins. Accessions derived from the African continent contributed 88.6 % of alleles confirming the African origin of sorghum. In total, 360 alleles were detected in the reference set with an average of 9 alleles per marker. The average PIC value was 0.5230 with a range of 0.1379-0.9483. Sub-race, guinea margaritiferum (Gma) from West Africa formed a separate cluster in close proximity to wild accessions suggesting that the Gma group represents an independent domestication event. Guineas from India and Western Africa formed two distinct clusters. Accessions belongs to the kafir race formed the most homogeneous group as observed in earlier studies. This analysis suggests that the EST-SSR markers used in the present study have greater discriminating power than the genomic SSRs. Genetic variance within the subpopulations was very high (71.7 %) suggesting that the germplasm lines included in the set are more diverse. Thus, this reference set representing the global germplasm is an ideal material for the breeding community, serving as a community resource for trait-specific allele mining as well as genome-wide association mapping.

  13. Hypersensitivity to Suture Anchors

    Directory of Open Access Journals (Sweden)

    Masafumi Goto

    2013-01-01

    Full Text Available Hypersensitivity to suture anchor is extremely rare. Herein, we present a case in which hypersensitivity to suture anchor was strongly suspected. The right rotator cuff of a 50-year-old woman was repaired with a metal suture anchor. Three weeks after the surgery, she developed erythema around her face, trunk, and hands, accompanied by itching. Infection was unlikely because no abnormalities were detected by blood testing or by medical examination. Suspicious of a metallic allergy, a dermatologist performed a patch testing 6 months after the first surgery. The patient had negative reactions to tests for titanium, aluminum, and vanadium, which were the principal components of the suture anchor. The anchor was removed 7 months after the first surgery, and the erythema disappeared immediately. When allergic symptoms occur and persist after the use of a metal anchor, removal should be considered as a treatment option even if the patch test result is negative.

  14. A reference genetic map of C. clementina hort. ex Tan.; citrus evolution inferences from comparative mapping

    Directory of Open Access Journals (Sweden)

    Ollitrault Patrick

    2012-11-01

    Full Text Available Abstract Background Most modern citrus cultivars have an interspecific origin. As a foundational step towards deciphering the interspecific genome structures, a reference whole genome sequence was produced by the International Citrus Genome Consortium from a haploid derived from Clementine mandarin. The availability of a saturated genetic map of Clementine was identified as an essential prerequisite to assist the whole genome sequence assembly. Clementine is believed to be a ‘Mediterranean’ mandarin × sweet orange hybrid, and sweet orange likely arose from interspecific hybridizations between mandarin and pummelo gene pools. The primary goals of the present study were to establish a Clementine reference map using codominant markers, and to perform comparative mapping of pummelo, sweet orange, and Clementine. Results Five parental genetic maps were established from three segregating populations, which were genotyped with Single Nucleotide Polymorphism (SNP, Simple Sequence Repeats (SSR and Insertion-Deletion (Indel markers. An initial medium density reference map (961 markers for 1084.1 cM of the Clementine was established by combining male and female Clementine segregation data. This Clementine map was compared with two pummelo maps and a sweet orange map. The linear order of markers was highly conserved in the different species. However, significant differences in map size were observed, which suggests a variation in the recombination rates. Skewed segregations were much higher in the male than female Clementine mapping data. The mapping data confirmed that Clementine arose from hybridization between ‘Mediterranean’ mandarin and sweet orange. The results identified nine recombination break points for the sweet orange gamete that contributed to the Clementine genome. Conclusions A reference genetic map of citrus, used to facilitate the chromosome assembly of the first citrus reference genome sequence, was established. The high

  15. Anchor Loads on Pipelines

    OpenAIRE

    Wei, Ying

    2015-01-01

    Anchor hooking on a subsea pipeline has been investigated in this thesis. Anchor loads on pipelines is in general a rarely occurring event, however, the severity when it occurs could easily jeopardize the integrity of any pipeline. It is considered as an accidental load in the design of pipelines. Pipeline Loads, limit state criteria and anchor categories are defined by the DNV standards. For pipeline, DNV-OS-F101 (08.2012), Submarine Pipeline Systems is adopted. Offshore standard DNV-RP...

  16. Conversion of chromosome-specific RAPDs into SCAR-based anchor markers for onion linkage maps and its application to genetic analyses inother Allium species

    NARCIS (Netherlands)

    Masuzaki, S.; Miyazaki, T.; McCallum, J.; Heusden, van A.W.; Kik, C.; Yamashita, K.; Tashiro, Y.

    2008-01-01

    Integration of previously developed Allium cepa linkage maps requires the availability of anchor markers for each of the eight chromosomes of shallot (A. cepa L. common group Aggregatum). To this end, eight RAPD markers originating from our previous research were converted into SCAR markers via clon

  17. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

    Directory of Open Access Journals (Sweden)

    Frederick E Dewey

    2011-09-01

    Full Text Available Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family with history of familial thrombophilia. We demonstrate that the use of the major allele reference sequence results in improved genotype accuracy for disease-associated variant loci. We infer recombination sites to the lowest median resolution demonstrated to date (< 1,000 base pairs. We use family inheritance state analysis to control sequencing error and inform family-wide haplotype phasing, allowing quantification of genome-wide compound heterozygosity. We develop a sequence-based methodology for Human Leukocyte Antigen typing that contributes to disease risk prediction. Finally, we advance methods for analysis of disease and pharmacogenomic risk across the coding and non-coding genome that incorporate phased variant data. We show these methods are capable of identifying multigenic risk for inherited thrombophilia and informing the appropriate pharmacological therapy. These ethnicity-specific, family-based approaches to interpretation of genetic variation are emblematic of the next generation of genetic risk assessment using whole-genome sequencing.

  18. Susceptibility to anchoring effects

    Directory of Open Access Journals (Sweden)

    Todd McElroy

    2007-02-01

    Full Text Available Previous research on anchoring has shown this heuristic to be a very robust psychological phenomenon ubiquitous across many domains of human judgment and decision-making. Despite the prevalence of anchoring effects, researchers have only recently begun to investigate the underlying factors responsible for how and in what ways a person is susceptible to them. This paper examines how one such factor, the Big-Five personality trait of openness-to-experience, influences the effect of previously presented anchors on participants' judgments. Our findings indicate that participants high in openness-to-experience were significantly more influenced by anchoring cues relative to participants low in this trait. These findings were consistent across two different types of anchoring tasks providing convergent evidence for our hypothesis.

  19. 棉花遗传锚定的基因组物理图谱%Toward a Genetically-anchored Physical Map of the Cotton Genomes

    Institute of Scientific and Technical Information of China (English)

    Andrew H. PATERSON; James C. ESTILL; Jun-kang RONG; Dawn T. WILLIAMS-COPLIN; Barry S. MARLER

    2002-01-01

    @@ We are using a high-density (1-cM) molecular map of the cotton genome based on RFLP, SSR,and EST markers as a foundation for development of a robust BAC based physical map. The 'overgo' approach is providing an efficient means by which to accomplish hybridization-based anchoring of geneticallymapped cotton sequences, and also heterologous sequences from other genomes that are useful for comparative biology.

  20. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    Directory of Open Access Journals (Sweden)

    Amzal Billy

    2011-02-01

    Full Text Available Abstract Background Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment. Results Statistical methods are described for the assessment of the difference between a genetically modified (GM plant variety and a conventional non-GM counterpart, and for the assessment of the equivalence between the GM variety and a group of reference plant varieties which have a history of safe use. It is proposed to present the results of both difference and equivalence testing for all relevant plant characteristics simultaneously in one or a few graphs, as an aid for further interpretation in safety assessment. A procedure is suggested to derive equivalence limits from the observed results for the reference plant varieties using a specific implementation of the linear mixed model. Three different equivalence tests are defined to classify any result in one of four equivalence classes. The performance of the proposed methods is investigated by a simulation study, and the methods are illustrated on compositional data from a field study on maize grain. Conclusions A clear distinction of practical relevance is shown between difference and equivalence testing. The proposed tests are shown to have appropriate performance characteristics by simulation, and the proposed simultaneous graphical representation of results was found to be helpful for the interpretation of results from a practical field trial data set.

  1. Genetic Diversity of the Two Commercial Tetraploid Cotton Species in the Gossypium Diversity Reference Set.

    Science.gov (United States)

    Hinze, Lori L; Gazave, Elodie; Gore, Michael A; Fang, David D; Scheffler, Brian E; Yu, John Z; Jones, Don C; Frelichowski, James; Percy, Richard G

    2016-05-01

    A diversity reference set has been constructed for the Gossypium accessions in the US National Cotton Germplasm Collection to facilitate more extensive evaluation and utilization of accessions held in the Collection. A set of 105 mapped simple sequence repeat markers was used to study the allelic diversity of 1933 tetraploid Gossypium accessions representative of the range of diversity of the improved and wild accessions of G. hirsutum and G. barbadense. The reference set contained 410 G. barbadense accessions and 1523 G. hirsutum accessions. Observed numbers of polymorphic and private bands indicated a greater diversity in G. hirsutum as compared to G. barbadense as well as in wild-type accessions as compared to improved accessions in both species. The markers clearly differentiated the 2 species. Patterns of diversity within species were observed but not clearly delineated, with much overlap occurring between races and regions of origin for wild accessions and between historical and geographic breeding pools for cultivated accessions. Although the percentage of accessions showing introgression was higher among wild accessions than cultivars in both species, the average level of introgression within individual accessions, as indicated by species-specific bands, was much higher in wild accessions of G. hirsutum than in wild accessions of G. barbadense. The average level of introgression within individual accessions was higher in improved G. barbadense cultivars than in G. hirsutum cultivars. This molecular characterization reveals the levels and distributions of genetic diversity that will allow for better exploration and utilization of cotton genetic resources.

  2. Anchor Trial Launch

    Science.gov (United States)

    NCI has launched a multicenter phase III clinical trial called the ANCHOR Study -- Anal Cancer HSIL (High-grade Squamous Intraepithelial Lesion) Outcomes Research Study -- to determine if treatment of HSIL in HIV-infected individuals can prevent anal canc

  3. Erythropoietin in the general population: reference ranges and clinical, biochemical and genetic correlates.

    Directory of Open Access Journals (Sweden)

    Niels Grote Beverborg

    Full Text Available Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population.We used data from 6,777 subjects enrolled in the Prevention of REnal and Vascular ENd-stage Disease (PREVEND study. Fasting venous blood samples were obtained in the morning from all participants from 2001-2003. Serum erythropoietin concentrations were measured using a fully automated chemiluminescent enzyme-labeled immunometric assay. A genome-wide association study was performed to identify genetic determinants.Mean age (± SD was 53 ± 12 years and 50% were female. Median (IQR erythropoietin concentrations were 7.6 (5.8-9.9 IU/L in men and 7.9 (6.0-10.6 IU/L in women. A strong positive correlation was found between erythropoietin and waist circumference, glucose and systolic blood pressure (all P < 0.05. In subjects with normal renal function there was a strong exponential relation between hemoglobin and erythropoietin, whereas in renal impairment (eGFR < 60 mL/min/1.73m² this relation was linear (men or absent (women (P < 0.001 for interaction. Single-nucleotide polymorphisms at the HBS1L-MYB locus were shown to be related to erythropoietin levels (P < 9x10-21, more significantly than other erythrocyte parameters.We provide age-specific reference ranges for endogenous serum erythropoietin. Erythropoietin levels are positively associated with the components of the metabolic syndrome, except cholesterol. We show that even mild renal failure blunts erythropoietin production and propose the HBS1L-MYB locus as a regulator of erythropoietin.

  4. Finding the joker among the maize endogenous reference genes for genetically modified organism (GMO) detection.

    Science.gov (United States)

    Paternò, Annalisa; Marchesi, Ugo; Gatto, Francesco; Verginelli, Daniela; Quarchioni, Cinzia; Fusco, Cristiana; Zepparoni, Alessia; Amaddeo, Demetrio; Ciabatti, Ilaria

    2009-12-09

    The comparison of five real-time polymerase chain reaction (PCR) methods targeted at maize ( Zea mays ) endogenous sequences is reported. PCR targets were the alcohol dehydrogenase (adh) gene for three methods and high-mobility group (hmg) gene for the other two. The five real-time PCR methods have been checked under repeatability conditions at several dilution levels on both pooled DNA template from several genetically modified (GM) maize certified reference materials (CRMs) and single CRM DNA extracts. Slopes and R(2) coefficients of all of the curves obtained from the adopted regression model were compared within the same method and among all of the five methods, and the limit of detection and limit of quantitation were analyzed for each PCR system. Furthermore, method equivalency was evaluated on the basis of the ability to estimate the target haploid genome copy number at each concentration level. Results indicated that, among the five methods tested, one of the hmg-targeted PCR systems can be considered equivalent to the others but shows the best regression parameters and a higher repeteability along the dilution range. Thereby, it is proposed as a valid module to be coupled to different event-specific real-time PCR for maize genetically modified organism (GMO) quantitation. The resulting practicability improvement on the analytical control of GMOs is discussed.

  5. Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.

    Science.gov (United States)

    Huang, Wen; Massouras, Andreas; Inoue, Yutaka; Peiffer, Jason; Ràmia, Miquel; Tarone, Aaron M; Turlapati, Lavanya; Zichner, Thomas; Zhu, Dianhui; Lyman, Richard F; Magwire, Michael M; Blankenburg, Kerstin; Carbone, Mary Anna; Chang, Kyle; Ellis, Lisa L; Fernandez, Sonia; Han, Yi; Highnam, Gareth; Hjelmen, Carl E; Jack, John R; Javaid, Mehwish; Jayaseelan, Joy; Kalra, Divya; Lee, Sandy; Lewis, Lora; Munidasa, Mala; Ongeri, Fiona; Patel, Shohba; Perales, Lora; Perez, Agapito; Pu, LingLing; Rollmann, Stephanie M; Ruth, Robert; Saada, Nehad; Warner, Crystal; Williams, Aneisa; Wu, Yuan-Qing; Yamamoto, Akihiko; Zhang, Yiqing; Zhu, Yiming; Anholt, Robert R H; Korbel, Jan O; Mittelman, David; Muzny, Donna M; Gibbs, Richard A; Barbadilla, Antonio; Johnston, J Spencer; Stone, Eric A; Richards, Stephen; Deplancke, Bart; Mackay, Trudy F C

    2014-07-01

    The Drosophila melanogaster Genetic Reference Panel (DGRP) is a community resource of 205 sequenced inbred lines, derived to improve our understanding of the effects of naturally occurring genetic variation on molecular and organismal phenotypes. We used an integrated genotyping strategy to identify 4,853,802 single nucleotide polymorphisms (SNPs) and 1,296,080 non-SNP variants. Our molecular population genomic analyses show higher deletion than insertion mutation rates and stronger purifying selection on deletions. Weaker selection on insertions than deletions is consistent with our observed distribution of genome size determined by flow cytometry, which is skewed toward larger genomes. Insertion/deletion and single nucleotide polymorphisms are positively correlated with each other and with local recombination, suggesting that their nonrandom distributions are due to hitchhiking and background selection. Our cytogenetic analysis identified 16 polymorphic inversions in the DGRP. Common inverted and standard karyotypes are genetically divergent and account for most of the variation in relatedness among the DGRP lines. Intriguingly, variation in genome size and many quantitative traits are significantly associated with inversions. Approximately 50% of the DGRP lines are infected with Wolbachia, and four lines have germline insertions of Wolbachia sequences, but effects of Wolbachia infection on quantitative traits are rarely significant. The DGRP complements ongoing efforts to functionally annotate the Drosophila genome. Indeed, 15% of all D. melanogaster genes segregate for potentially damaged proteins in the DGRP, and genome-wide analyses of quantitative traits identify novel candidate genes. The DGRP lines, sequence data, genotypes, quality scores, phenotypes, and analysis and visualization tools are publicly available.

  6. AUV Load Separation Motion with Constraint of Anchor Chain

    Institute of Scientific and Technical Information of China (English)

    SHAO Cheng; SONG Bao-wei; DU Xiao-xu; WANG Peng; LI Jia-wang

    2009-01-01

    Motion equations of AUV(autonomous underwater vehicle) load separation with the constraint of anchor chain is derived. Based on proper engineering assumptions for anchor chain,system viewpoint is used to found the motion equations, and the D'Alembert principle is used to eliminate the constraint force of anchor chain. Based on the equations, the motion simulation is carried out to a certain AUV, which reflects the actual condition, and is used for the reference of resrarching AUV load separation motion with the constraint of anchor chain.

  7. Reference benchmarks relating to great groups of genetic soil classification of China with soil taxonomy

    Institute of Scientific and Technical Information of China (English)

    SHI Xuezheng; YU Dongsheng; SUN Weixia; WANG Hongjie; ZHAO Qiguo; GONG Zitong

    2004-01-01

    Soil classification forms the basis for the exchange and extension of research findings in soil science and for the modernization of management of soil resources. This paper systematically reviews the compatibility of the genetic soil classification of China (GSCC) and soil taxonomy (ST).This includes a study of the evolution and consummation of the GSCC and assessment of the databases and methods of the study. Using the "Soil Species of China (six volumes)"and some provincial soil species as the basic material, the authors gathered information from 2540 soil species. Based on the key described in ST, the 2540 soil species were taxonomically classified into corresponding soil orders, suborders,great groups and subgroups and then matched with corresponding map units in the 1: 1000000 digital soil map of China. Using the high-level classification units of the two soil classification systems, and the attributes of each soil species,the sizes of distribution areas were mapped. The soil distribution results were analyzed and compared statistically. The reference compatibility between the great groups used in GSCC system and the soil orders of the ST is discussed. It is believed that 20 great groups display maximum referencibility >95% and 15 great groups depict maximum referencibility in the range of 70%-95%, which can be cited as reference benchmarks. The remaining 25 great groups are less compatible (with maximum referencibility <70%) and need further study, or require referencing at lower classification levels or at a regional level to help to improve the accuracy of the reference.

  8. Genetics Home Reference: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Other Diagnosis and Management ...

  9. Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

    DEFF Research Database (Denmark)

    Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan

    2010-01-01

    was to validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....

  10. COMPARISON OF COUPLES REFERRED AND NOT REFERRED FOR GENETIC-COUNSELING IN A GENETIC CLINIC AFTER THE BIRTH OF A CHILD WITH A CONGENITAL ANOMALY - A STUDY IN A POPULATION IN THE NORTHEASTERN NETHERLANDS

    NARCIS (Netherlands)

    CORNEL, MC; VANESSEN, AJ; TENKATE, LP

    1992-01-01

    After the birth of a child with a congenital anomaly, parents have many questions about cause, prognosis, and recurrence risk. An important means of transmitting such information is referral to a genetic clinic. We were interested in knowing what determines whether or not parents are referred for ge

  11. Full-Reference Image Quality Assessment with Linear Combination of Genetically Selected Quality Measures.

    Directory of Open Access Journals (Sweden)

    Mariusz Oszust

    Full Text Available Information carried by an image can be distorted due to different image processing steps introduced by different electronic means of storage and communication. Therefore, development of algorithms which can automatically assess a quality of the image in a way that is consistent with human evaluation is important. In this paper, an approach to image quality assessment (IQA is proposed in which the quality of a given image is evaluated jointly by several IQA approaches. At first, in order to obtain such joint models, an optimisation problem of IQA measures aggregation is defined, where a weighted sum of their outputs, i.e., objective scores, is used as the aggregation operator. Then, the weight of each measure is considered as a decision variable in a problem of minimisation of root mean square error between obtained objective scores and subjective scores. Subjective scores reflect ground-truth and involve evaluation of images by human observers. The optimisation problem is solved using a genetic algorithm, which also selects suitable measures used in aggregation. Obtained multimeasures are evaluated on four largest widely used image benchmarks and compared against state-of-the-art full-reference IQA approaches. Results of comparison reveal that the proposed approach outperforms other competing measures.

  12. A novel reference plasmid for the qualitative detection of genetically modified rice in food and feed.

    Science.gov (United States)

    Li, Liang; Dong, Mei; An, Na; Liang, Lixia; Wan, Yusong; Jin, Wujun

    2015-01-01

    Rice is one of the most important food crops in the world. Genetically modified (GM) technology has been used in rice to confer herbicide tolerance and pathogen or insect resistance. China invests heavily in research on GM rice. By the end of 2014, at least 250 transgenic rice lines had been developed in China. To monitor the presence of GM rice in food and feed, we collected information on foreign elements from 250 transgenic rice lines and found 5 elements, including the Agrobacterium tumefaciens nopaline synthase terminator (T-NOS), the cauliflower mosaic virus 35S promoter (CaMV35S), the ubiquitin gene (Ubi), the bar gene, and the hygromycin phosphotransferase gene (Hpt), that are commonly present in GM rice. Therefore, we constructed a novel plasmid (pBJGMM001) that contains fragments of these elements and two endogenous reference genes (the sucrose phosphate synthase gene, SPS, and the phosphoenolpyruvate carboxylase gene, PEPC). pBJGMM001 can serve as a standard for detecting 96% of GM rice lines in China. The primers, amplicons, reaction mixture, and PCR program were developed based on Chinese National Standards. The protocol was validated and determined to be suitable for practical use in monitoring and identifying GM rice.

  13. A Novel Reference Plasmid for the Qualitative Detection of Genetically Modified Rice in Food and Feed

    Directory of Open Access Journals (Sweden)

    Liang Li

    2015-01-01

    Full Text Available Rice is one of the most important food crops in the world. Genetically modified (GM technology has been used in rice to confer herbicide tolerance and pathogen or insect resistance. China invests heavily in research on GM rice. By the end of 2014, at least 250 transgenic rice lines had been developed in China. To monitor the presence of GM rice in food and feed, we collected information on foreign elements from 250 transgenic rice lines and found 5 elements, including the Agrobacterium tumefaciens nopaline synthase terminator (T-NOS, the cauliflower mosaic virus 35S promoter (CaMV35S, the ubiquitin gene (Ubi, the bar gene, and the hygromycin phosphotransferase gene (Hpt, that are commonly present in GM rice. Therefore, we constructed a novel plasmid (pBJGMM001 that contains fragments of these elements and two endogenous reference genes (the sucrose phosphate synthase gene, SPS, and the phosphoenolpyruvate carboxylase gene, PEPC. pBJGMM001 can serve as a standard for detecting 96% of GM rice lines in China. The primers, amplicons, reaction mixture, and PCR program were developed based on Chinese National Standards. The protocol was validated and determined to be suitable for practical use in monitoring and identifying GM rice.

  14. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

    Science.gov (United States)

    Kalman, Lisa; Tarleton, Jack; Hitch, Monica; Hegde, Madhuri; Hjelm, Nick; Berry-Kravis, Elizabeth; Zhou, Lili; Hilbert, James E; Luebbe, Elizabeth A; Moxley, Richard T; Toji, Lorraine

    2013-07-01

    Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not available. To address this need, the Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community, the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members, and the Coriell Cell Repositories, has established and characterized cell lines from patients with DM1 to create a reference material panel. The CTG repeats in genomic DNA samples from 10 DM1 cell lines were characterized in three clinical genetic testing laboratories using PCR and Southern blot analysis. DMPK alleles in the samples cover four of five DM1 clinical categories: normal (5 to 34 repeats), mild (50 to 100 repeats), classical (101 to 1000 repeats), and congenital (>1000 repeats). We did not identify or establish Coriell cell lines in the premutation range (35 to 49 repeats). These samples are publicly available for quality control, proficiency testing, test development, and research and should help improve the accuracy of DM1 testing.

  15. Genetics Home Reference: 6q24-related transient neonatal diabetes mellitus

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions 6q24-related transient neonatal diabetes ...

  16. Genetics Home Reference: STING-associated vasculopathy with onset in infancy

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and help with tissue repair. Excessive inflammation ... my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency ...

  17. Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb

    Science.gov (United States)

    2012-01-01

    Background Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs) are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs) to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited. Methods The back end DBMS (Database Management System) for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts. Results We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu), that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu). In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color. Conclusion The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in identifying datasets and

  18. Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb

    Directory of Open Access Journals (Sweden)

    Rajeevan Haseena

    2012-09-01

    Full Text Available Abstract Background Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited. Methods The back end DBMS (Database Management System for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts. Results We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu, that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu. In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color. Conclusion The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in

  19. Genetic structure, diversity, and allelic richness in composite collection and reference set in chickpea (Cicer arietinum L.

    Directory of Open Access Journals (Sweden)

    Gowda Cholenahalli LL

    2008-10-01

    Full Text Available Abstract Background Plant genetic resources (PGR are the basic raw materials for future genetic progress and an insurance against unforeseen threats to agricultural production. An extensive characterization of PGR provides an opportunity to dissect structure, mine allelic variations, and identify diverse accessions for crop improvement. The Generation Challenge Program http://www.generationcp.org conceptualized the development of "composite collections" and extraction of "reference sets" from these for more efficient tapping of global crop-related genetic resources. In this study, we report the genetic structure, diversity and allelic richness in a composite collection of chickpea using SSR markers, and formation of a reference set of 300 accessions. Results The 48 SSR markers detected 1683 alleles in 2915 accessions, of which, 935 were considered rare, 720 common and 28 most frequent. The alleles per locus ranged from 14 to 67, averaged 35, and the polymorphic information content was from 0.467 to 0.974, averaged 0.854. Marker polymorphism varied between groups of accessions in the composite collection and reference set. A number of group-specific alleles were detected: 104 in Kabuli, 297 in desi, and 69 in wild Cicer; 114 each in Mediterranean and West Asia (WA, 117 in South and South East Asia (SSEA, and 10 in African region accessions. Desi and kabuli shared 436 alleles, while wild Cicer shared 17 and 16 alleles with desi and kabuli, respectively. The accessions from SSEA and WA shared 74 alleles, while those from Mediterranean 38 and 33 alleles with WA and SSEA, respectively. Desi chickpea contained a higher proportion of rare alleles (53% than kabuli (46%, while wild Cicer accessions were devoid of rare alleles. A genotype-based reference set captured 1315 (78% of the 1683 composite collection alleles of which 463 were rare, 826 common, and 26 the most frequent alleles. The neighbour-joining tree diagram of this reference set represents

  20. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  1. Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

    NARCIS (Netherlands)

    Nielsen, H.B.; Almeida, M.; Sierakowska Juncker, A.; Rasmussen, S.; Li, J.; Sunagawa, S.; Plichta, D.R.; Gautier, L.; Pedersen, A.G.; Chatelier, Le E.; Pelletier, E.; Bonde, I.; Nielsen, T.; Manichanh, C.; Arumugam, M.; Batto, J.M.; Quintanilha dos Santos, M.B.; Blom, N.; Borruel, N.; Burgdorf, K.S.; Boumezbeur, F.; Casellas, F.; Doré, J.; Dworzynski, P.; Guarner, F.; Hansen, T.; Hildebrand, F.; Kaas, R.S.; Kennedy, S.; Kristiansen, K.; Kultima, J.R.; Leonard, P.; Levenez, F.; Lund, O.; Moumen, B.; Paslier, Le D.; Pons, N.; Pedersen, O.; Prifti, E.; Qin, J.; Raes, J.; Sørensen, S.; Tap, J.; Tims, S.; Ussery, D.W.; Yamada, T.; Jamet, A.; Mérieux, A.; Cultrone, A.; Torrejon, A.; Quinquis, B.; Brechot, C.; Delorme, C.; M'Rini, C.; Vos, de W.M.; Maguin, E.; Varela, E.; Guedon, E.; Gwen, F.; Haimet, F.; Artiguenave, F.; Vandemeulebrouck, G.; Denariaz, G.; Khaci, G.; Blottière, H.; Knol, J.; Weissenbach, J.; Hylckama Vlieg, van J.E.; Torben, J.; Parkhil, J.; Turner, K.; Guchte, van de M.; Antolin, M.; Rescigno, M.; Kleerebezem, M.; Derrien, M.; Galleron, N.; Sanchez, N.; Grarup, N.; Veiga, P.; Oozeer, R.; Dervyn, R.; Layec, S.; Bruls, T.; Winogradski, Y.; Zoetendal, E.G.; Renault, D.; Sicheritz-Ponten,; Bork, P.; Wang, J.; Brunak, S.; Ehrlich, S.D.

    2014-01-01

    Most current approaches for analyzing metagenomic data rely on comparisons to reference genomes, but the microbial diversity of many environments extends far beyond what is covered by reference databases. De novo segregation of complex metagenomic data into specific biological entities, such as part

  2. Genetics Home Reference: autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Science.gov (United States)

    ... Genetics Home Health Conditions ARSACS autosomal recessive spastic ataxia of Charlevoix-Saguenay Enable Javascript to view the ... Open All Close All Description Autosomal recessive spastic ataxia of Charlevoix-Saguenay , more commonly known as ARSACS , ...

  3. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    NARCIS (Netherlands)

    Voet, van der H.; Perry, J.N.; Amzal, B.; Paoletti, C.

    2011-01-01

    Background - Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment. Re

  4. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    OpenAIRE

    Amzal Billy; Perry Joe N; van der Voet Hilko; Paoletti Claudia

    2011-01-01

    Abstract Background Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment. Results Statistical methods are described for the assessment of the difference between a genetically modified (GM) plant variety and a conventional non-GM counterpart, and for the assessment o...

  5. Anchoring visions in organizations

    DEFF Research Database (Denmark)

    Simonsen, Jesper

    1999-01-01

    This paper introduces the term 'anchoring' within systems development: Visions, developed through early systems design within an organization, need to be deeply rooted in the organization. A vision's rationale needs to be understood by those who decide if the vision should be implemented as well...... as by those involved in the actual implementation. A model depicting a recent trend within systems development is presented: Organizations rely on purchasing generic software products and/or software development outsourced to external contractors. A contemporary method for participatory design, where...

  6. "People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain.

    Science.gov (United States)

    Gordon, Cynthia; Prince, Michele B; Benkendorf, Judith L; Hamilton, Heidi E

    2002-08-01

    Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor-client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.

  7. Genetics of coronary heart disease with reference to ApoAICⅡI-AIV gene region

    Institute of Scientific and Technical Information of China (English)

    Suraksha; Agrawal; Sarabjit; Mastana

    2014-01-01

    Cardiovascular diseases are affected by multiple factors like genetic as well as environmental hence they reveal factorial nature. The evidences that genetic factors are susceptible for developing cardiovascular diseases come from twin studies and familial aggregation. Different ethnic populations reveal differences in the prevalence coronary artery disease(CAD) pointing towards the genetic susceptibility. With progression in molecular techniques different developments have been made to comprehend the disease physiology. Molecular markers have also assisted to recognize genes that may provide evidences to evaluate the role of genetic factors in causation of susceptibility towards CAD. Numerous studies suggest the contribution of specific "candidate genes", which correlate with various roles/pathways that are involved in the coronary heart disease. Different studies have revealed that there are large numbers of genes which are involved towards the predisposition of CAD. However, these reports are not consistent. One of the reasons could be weak contribution of genetic susceptibility of these genes. Genome wide associations show different chromosomal locations which dock, earlier unknown, genes which may attribute to CAD. In the present review different ApoAI-CⅡI-AIV gene clusters have been discussed.

  8. Morphological, physiological and molecular genetic characterization ofArabidopsis himalaica, with reference toA. thaliana.

    Science.gov (United States)

    Tsukaya, H; Yokoyama, J; Ikeda, H; Kuroiwa, H; Kuroiwa, T; Iwatsuki, K

    1997-03-01

    Arabidopsis himalaica (Edgeworth) O.E. Schulz, a poorly characterized species typical of HimalayanArabidopsis, was analyzed in terms of its morphology, physiology, chromosome number and molecular genetics, in comparison withA. thaliana which is the standard species in the genusArabidopsis. From view point of developmental genetics, several features which are specific toA. himalaica seem not to be derived by single-gene mutations inA. thaliana. Phylogenetic analyses based onrbcL sequences suggested that genusArabidopsis is not monophyletic. The detailed characterization ofA. himalaica should provide clues to understand the trait of evolution of particular features of Himalayan species ofArabidopsis and their genetic basis.

  9. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral.

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.E.M.

    2012-01-01

    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a 7

  10. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.

    2012-01-01

    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a 7

  11. Genetics Home Reference: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal ...

    Science.gov (United States)

    ... Munnich A, Rötig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. Epub 2007 May 7. Citation on PubMed GeneReview: RRM2B-Related Mitochondrial Disease Pontarin G, Ferraro P, Bee L, Reichard P, ...

  12. Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

    DEFF Research Database (Denmark)

    Nielsen, Henrik Bjørn; Almeida, Mathieu; Juncker, Agnieszka

    2014-01-01

    , such as particular bacterial strains or viruses, remains a largely unsolved problem. Here we present a method, based on binning co-abundant genes across a series of metagenomic samples, that enables comprehensive discovery of new microbial organisms, viruses and co-inherited genetic entities and aids assembly...

  13. Daily reference evapotranspiration modeling by using genetic programming approach in the Basque Country (Northern Spain)

    NARCIS (Netherlands)

    Shiri, J.; Kisi, O.; Landeras, G.; Lopez, J.J.; Nazemi, A.H.; Stuyt, L.C.P.M.

    2012-01-01

    Evapotranspiration, as a major component of the hydrological cycle, is of importance for water resources management and development, as well as for estimating the water budget of irrigation schemes. This study presents a Gene Expression Programming (GEP) approach, for estimating daily reference evap

  14. Perceptual anchoring in preschool children: not adultlike, but there.

    Directory of Open Access Journals (Sweden)

    Karen Banai

    Full Text Available BACKGROUND: Recent studies suggest that human auditory perception follows a prolonged developmental trajectory, sometimes continuing well into adolescence. Whereas both sensory and cognitive accounts have been proposed, the development of the ability to base current perceptual decisions on prior information, an ability that strongly benefits adult perception, has not been directly explored. Here we ask whether the auditory frequency discrimination of preschool children also improves when given the opportunity to use previously presented standard stimuli as perceptual anchors, and whether the magnitude of this anchoring effect undergoes developmental changes. METHODOLOGY/PRINCIPAL FINDINGS: Frequency discrimination was tested using two adaptive same/different protocols. In one protocol (with-reference, a repeated 1-kHz standard tone was presented repeatedly across trials. In the other (no-reference, no such repetitions occurred. Verbal memory and early reading skills were also evaluated to determine if the pattern of correlations between frequency discrimination, memory and literacy is similar to that previously reported in older children and adults. Preschool children were significantly more sensitive in the with-reference than in the no-reference condition, but the magnitude of this anchoring effect was smaller than that observed in adults. The pattern of correlations among discrimination thresholds, memory and literacy replicated previous reports in older children. CONCLUSIONS/SIGNIFICANCE: The processes allowing the use of context to form perceptual anchors are already functional among preschool children, albeit to a lesser extent than in adults. Nevertheless, immature anchoring cannot fully account for the poorer frequency discrimination abilities of young children. That anchoring is present among the majority of typically developing preschool children suggests that the anchoring deficits observed among individuals with dyslexia represent a

  15. Intelligent Educational Systems for Anchored Instruction?

    Science.gov (United States)

    Kumar, David D.

    1995-01-01

    Explores the potential for using Intelligent Educational Systems (IES) for anchoring instruction in macro contexts in science education. Topics include anchored instruction; situated cognition; problem solving; cognitivism; interactive video environments; and examples of combining IES and anchored instruction. (LRW)

  16. The Collaborative Cross mouse genetic reference population designed for dissecting complex traits

    Institute of Scientific and Technical Information of China (English)

    Hanifa Abu Toamih Atamni; Mahmoud Egbaria; Yaser Salaymeh; Aysar Nashif; Fuad AIraqi

    2016-01-01

    [ Abstract] Complex traits are multifactorial traits controlled by polygenic host factors.These trait-related phenotypic characteristics and performance including body weight, blood chemistry, immune cell profiles, as well host susceptibility to infectious and chronic diseases.In recent years, tremendous efforts were invested aiming to map the host genetic factors attribute to these traits and subsequently clone the gene/s underlying these loci.In parallel to human studies, a number of mouse models and approaches were developed aimed to enhance the mapping process and the gene cloning.These include of using resources such as F2, backcross, advanced intercross lines, outbred populations, consomic, congenic and recombinant inbred lines (RIL).The constraints of these approaches were the limited resolution mapping of genomic regions of the quantitative trait loci (QTL) associated with the trait of interests, and the limited genetic diversity observed in the parental founders.To overcome these limitations, a new genetically highly diverse recombinant inbred lines of mouse population was established, namely the Collaborative Cross (CC), created from full reciprocal mating of 8 divergent strains of mice: A/J, C57BL/6J, 129S1 /SvImJ, NOD/LtJ, NZO/HiLtJ, CAST/Ei, PWK/PhJ, and WSB/EiJ.By intercrossing these eight founders to generate the different CC lines, the genetic makeup of the newly developed resource is completely different from the eight parental lines, and will show heterosis, which subsequently will response differently comparing with their original founders.Finally, our results suggest that it is not essential to defining the phenotypic response of the eight parental lines, prior of assessing the CC lines, because it is believed that genetic interaction of the new genetic makeup of the new lines will reveal new phenotypic response, which completely different from the parental lines.In this report, we present to the community the power of the CC for dissecting

  17. Not all nutrition claims are perceived equal: anchoring effects and moderating mechanisms in food advertising.

    Science.gov (United States)

    Paek, Hye-Jin; Yoon, Hye Jin; Hove, Thomas

    2011-03-01

    Despite the increased use of health claims in food advertising, few studies have investigated how specific nutrition claims have differential effects depending on how they are presented. In this context, the current study tests the anchoring hypothesis. Anchoring refers to a common human tendency to evaluate information differently depending on the presence or absence of a numerical "anchor" or reference point. Two (pilot and main) experimental studies explore anchoring effects on audience response to food advertising both directly and moderated by cognitive, motivational, and message factors. The pilot study finds that food product ads employing nutrition claims with an anchor rather than without an anchor generate two results: First, participants perceive the product to have lower fat/lower calorie contents (anchoring hypothesis); second, they prefer the messages with an anchor over those without an anchor. The main study reports that when anchoring is successfully evoked, it produces favorable attitudes toward the ad, favorable attitudes toward the brand, and purchase intention-but only when moderated by health orientation, claim believability, and nutrition knowledge. Practical implications are provided with respect to regulatory guidelines and effective communication strategies for promoting low-fat and low-calorie products in food advertising.

  18. Systems genetics of liver fibrosis: identification of fibrogenic and expression quantitative trait loci in the BXD murine reference population.

    Directory of Open Access Journals (Sweden)

    Rabea A Hall

    Full Text Available The progression of liver fibrosis in response to chronic injury varies considerably among individual patients. The underlying genetics is highly complex due to large numbers of potential genes, environmental factors and cell types involved. Here, we provide the first toxicogenomic analysis of liver fibrosis induced by carbon tetrachloride in the murine 'genetic reference panel' of recombinant inbred BXD lines. Our aim was to define the core of risk genes and gene interaction networks that control fibrosis progression. Liver fibrosis phenotypes and gene expression profiles were determined in 35 BXD lines. Quantitative trait locus (QTL analysis identified seven genomic loci influencing fibrosis phenotypes (pQTLs with genome-wide significance on chromosomes 4, 5, 7, 12, and 17. Stepwise refinement was based on expression QTL mapping with stringent selection criteria, reducing the number of 1,351 candidate genes located in the pQTLs to a final list of 11 cis-regulated genes. Our findings demonstrate that the BXD reference population represents a powerful experimental resource for shortlisting the genes within a regulatory network that determine the liver's vulnerability to chronic injury.

  19. Role of the "National Reference Centre for Genetically Modified Organisms (GMO) detection" in the official control of food and feed.

    Science.gov (United States)

    Ciabatti, I; Marchesi, U; Froiio, A; Paternò, A; Ruggeri, M; Amaddeo, D

    2005-08-01

    The National Reference Centre for Genetically Modified Organisms (GMO) detection was established in 2002 within the Istituto Zooprofilattico Sperimentale Lazio e Toscana, with the aim of providing scientific and technical support to the National Health System and to the Ministry of Health within the scope of the regulation of GMO use in food and feed.The recently adopted EU legislation on GMOs (Regulation CE no. 1829/2003 and no. 1830/2003) introduced more rigorous procedures for the authorisation, labelling and analytical control of food and feed consisting, containing or derived from GMOs. The National Reference Centre, besides its institutional tasks as one of the laboratories of the Italian National Health System, collects and analyses data and results of the national official control of GMOs; carries out scientific research aimed at developing, improving, validating and harmonising detection and quantification methods, in cooperation with other scientific institutions, the Community Reference Laboratory and within the European Network of GMOs laboratories (ENGL); collaborates with the Ministry of Health in the definition of control programmes and promotes educational and training initiatives. Objectives defined for 2004-2006, activities in progress and goals already achieved are presented.

  20. STABILITY IN REAL TIME OF SOME CRYOPRESERVED MICROBIAL STRAINS WITH REFERENCE TO GENETICALLY MODIFIED MICROORGANISMS

    Directory of Open Access Journals (Sweden)

    DANIELA VINTILĂ

    2013-12-01

    Full Text Available The aim of this work is to analyze the viability of microorganisms from Collection of Industrial Microorganisms from Faculty of Animal Science and Biotechnology – Timisoara, during freezing and thawing as part of cryopreservation technique. The stability in real time of 19 strains cryopreserved in 16% glycerol was evaluated during a 6-months period. The strains studied were: Escherichia coli, Lactobacillus acidophilus, Rhizobium meliloti, Saccharomyces cerevisiae, Aspergillus oryzae, Aspergillus niger, Trichoderma viride, Bacillus globigii, Bacillus licheniformis, and 9 strains of Bacillus subtilis. The strains cryopreserved at -20oC and -70oC were activated using the fast thawing protocol. A better cell recovery was achieved with the -70oC protocol reaching an average viability for E. coli of 86,3%, comparing with 78,6% in -20oC protocol. The cell recovery percentages for the other strains were: 92,4% for L. acidophilus, 93,9% for A.niger, 89% for A. oryzae, 86,7% for T. viride, 94,2% for R. meliloti, 82,1% for S. cerevisiae, 89,9% for B. licheniformis. Regarding the viability of genetically modified microorganisms, the values shows a good recovering after freezing and thawing, even after 180 days of cryopreservation. With the -20oC protocol lower viability was observed due probably to the formation of eutectic mixtures and recrystalization processes.

  1. Cross-Reference Benchmarks for Translating the Genetic Soil Classification of China into the Chinese Soil Taxonomy

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Soil classification is the foundation for exchange and extension of research findings in soil science and for modern management of soil resources. This study explained database and research methodology to create a cross-reference system for translating the Genetic Soil Classification of China (GSCC) into the Chinese Soil Taxonomy (CST). With the help of the CST keys, each of the 2 540 soil species in GSCC has been interpreted to its corresponding soil order, suborder,great group, and sub-group in CST. According to the methodology adopted, the assigned soil species have been linked one another to their corresponding polygons in the 1:1000 000 digital soil map of China. Referencibility of each soil species between the GSCC and CST systems was determined statistically on the basis of distribution area of each soil species at a high taxon level of the two systems. The soils were then sorted according to their maximum referencibility and classified into three categories for discussion. There were 19 soil great groups in GSCC with maximum referencibility > 90% and 22great groups between 60%-90%. These soil great groups could serve as cross-reference benchmarks. There were 19 great groups in GSCC with maximum referencibility < 60%, which could be used as cross-reference benchmarks until new and better results were available. For these soils, if the translation was made at a lower soil taxon level or on a regional basis,it would improve their referencibility enabling them to serve as new cross-reference benchmarks.

  2. Reference database of hypervariable genetic markers of Argentina: application for molecular anthropology and forensic casework.

    Science.gov (United States)

    Sala, A; Penacino, G; Carnese, R; Corach, D

    1999-06-01

    The population of Argentina is mostly composed of people of European ancestry. Aboriginal communities are at present very reduced in number and restricted to small geographically isolated patches. Three aboriginal communities, the Mapuche, Tehuelche and Wichi, were selected for short tandem repeat (STR) investigation. The metropolitan population of the city of Buenos Aires was analyzed, with both micro- and minisatellites. The minisatellite loci D1S7, D2S44, D4S139, D5S110, D8S358, D10S28, and D17S26 were typed on HaeIII-digested DNA obtained from unrelated individuals. D1S80 was typed by polymerase chain reaction (PCR). The autosomal STRs THO1, FABP, D6S366, CSF1PO, TPOX, F13A1, FES/FPS, vWA, MBPA/B, D16S539, D7S820, D13S317, and RENA4 and the sex chromosome STRs HPRTB, DYS385, DYS3891, DYS38911, DYS19, DYS390, DYS391, DYS392, DYS393 and YCAII were also investigated. As a by-product of our investigations, a reference database was created that is routinely used in forensic casework and paternity testing. STR allele frequency distributions are characterized by significant differences within and also between different populations. In contrast, the minisatellite bin distribution of the metropolitan population is not significantly different from other Caucasian populations.

  3. Anchored Instruction and Situated Cognition Revisited.

    Science.gov (United States)

    Educational Technology, 1993

    1993-01-01

    Reviews theories of anchored instruction and addresses issues related to learning, transfer, and assessment. Highlights include video-based macrocontexts; videodisc anchors versus computer-based simulations; cooperative learning; transfer outside the classroom; authenticity; visual anchors versus verbal anchors; situated cognition; and using…

  4. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

    Directory of Open Access Journals (Sweden)

    Stattin Eva-Lena

    2012-10-01

    Full Text Available Abstract Background Long QT syndrome (LQTS is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort. Methods Between March 2006 and October 2009, two hundred, unrelated index cases were referred to the Department of Clinical Genetics, Umeå University Hospital, Sweden, for LQTS genetic testing. We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 for mutations by DHPLC and/or sequencing. We applied MLPA to detect large deletions or duplications in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Furthermore, the gene RYR2 was screened in 36 selected LQTS genotype-negative patients to detect cases with the clinically overlapping disease catecholaminergic polymorphic ventricular tachycardia (CPVT. Results In total, a disease-causing mutation was identified in 103 of the 200 (52% index cases. Of these, altered exon copy numbers in the KCNH2 gene accounted for 2% of the mutations, whereas a RYR2 mutation accounted for 3% of the mutations. The genotype-positive cases stemmed from 64 distinct mutations, of which 28% were novel to this cohort. The majority of the distinct mutations were found in a single case (80%, whereas 20% of the mutations were observed more than once. Two founder mutations, KCNQ1 p.Y111C and KCNQ1 p.R518*, accounted for 25% of the genotype-positive index cases. Genetic cascade screening of 481 relatives to the 103 index cases with an identified mutation revealed 41% mutation carriers who were at risk of cardiac events such as syncope or sudden unexpected death. Conclusion In this cohort of Swedish index cases with suspected LQTS, a disease-causing mutation was identified in 52% of the referred patients. Copy number variations explained 2% of the

  5. Microgravity Drill and Anchor System

    Science.gov (United States)

    Parness, Aaron; Frost, Matthew A.; King, Jonathan P.

    2013-01-01

    This work is a method to drill into a rock surface regardless of the gravitational field or orientation. The required weight-on-bit (WOB) is supplied by a self-contained anchoring mechanism. The system includes a rotary percussive coring drill, forming a complete sampling instrument usable by robot or human. This method of in situ sample acquisition using micro - spine anchoring technology enables several NASA mission concepts not currently possible with existing technology, including sampling from consolidated rock on asteroids, providing a bolt network for astronauts visiting a near-Earth asteroid, and sampling from the ceilings or vertical walls of lava tubes and cliff faces on Mars. One of the most fundamental parameters of drilling is the WOB; essentially, the load applied to the bit that allows it to cut, creating a reaction force normal to the surface. In every drilling application, there is a minimum WOB that must be maintained for the system to function properly. In microgravity (asteroids and comets), even a small WOB could not be supported conventionally by the weight of the robot or astronaut. An anchoring mechanism would be needed to resist the reactions, or the robot or astronaut would push themselves off the surface and into space. The ability of the system to anchor itself to a surface creates potential applications that reach beyond use in low gravity. The use of these anchoring mechanisms as end effectors on climbing robots has the potential of vastly expanding the scope of what is considered accessible terrain. Further, because the drill is supported by its own anchor rather than by a robotic arm, the workspace is not constrained by the reach of such an arm. Yet, if the drill is on a robotic arm, it has the benefit of not reflecting the forces of drilling back to the arm s joints. Combining the drill with the anchoring feet will create a highly mobile, highly stable, and highly reliable system. The drilling system s anchor uses hundreds of

  6. Genetics Home Reference: achondrogenesis

    Science.gov (United States)

    ... This protein plays a critical role in the Golgi apparatus , a cell structure in which newly produced ... which alters the structure and function of the Golgi apparatus. Researchers suspect that cells called chondrocytes in ...

  7. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... of the body's cells, it is known as germinal retinoblastoma . People with this form of retinoblastoma also ... estimate that 40 percent of all retinoblastomas are germinal, which means that RB1 mutations occur in all ...

  8. Genetics Home Reference: anencephaly

    Science.gov (United States)

    ... in offsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689. doi: 10.1371/journal. ... defects: a meta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi: 10. ...

  9. Genetics Home Reference: trichothiodystrophy

    Science.gov (United States)

    ... from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, ... the United States and Europe. About 100 affected individuals have been reported worldwide. Related Information What information ...

  10. Genetics Home Reference: cystinuria

    Science.gov (United States)

    ... characterized by the buildup of the amino acid cystine, a building block of most proteins, in the ... As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People ...

  11. Genetics Home Reference: porphyria

    Science.gov (United States)

    ... ALAD , ALAS2 , CPOX , FECH , HMBS , PPOX , UROD , or UROS . The genes related to porphyria provide instructions for ... ALAD ALAS2 CPOX FECH HFE HMBS PPOX UROD UROS Related Information What is a gene? What is ...

  12. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... gene provides instructions for making an enzyme called phenylalanine hydroxylase . This enzyme converts the amino acid phenylalanine to ... body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. ...

  13. Genetics Home Reference: pseudoachondroplasia

    Science.gov (United States)

    ... and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. J Orthop Res. ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  14. Genetics Home Reference: globozoospermia

    Science.gov (United States)

    ... egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia , however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility. Related Information What does ...

  15. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... or Free article on PubMed Central Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, ... iovs.10-5263. Citation on PubMed Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. ...

  16. Genetics Home Reference: narcolepsy

    Science.gov (United States)

    ... their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak ... awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals. ...

  17. Genetics Home Reference: bradyopsia

    Science.gov (United States)

    ... they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under ...

  18. Genetics Home Reference: pilomatricoma

    Science.gov (United States)

    ... grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single ... These mutations are somatic, which means they are acquired during a person's ...

  19. Genetics Home Reference: otulipenia

    Science.gov (United States)

    ... that lead to inflammation are stimulated by the attachment of chains of ubiquitin molecules linked end-to- ... Related Information What does it mean if a disorder seems to run in my family? What are ...

  20. Seals, Concrete Anchors, and Connections

    Science.gov (United States)

    1989-02-01

    the system the cable sizes can be changed even after concreting work _ is finished. i W The structure is also suitable for modern concrete formwork ...1 ruiinn 0i all 3up-H-Stud is a heavy-duty, all steel, expansion wedge anchor types of equipment. Typical applications: tunnel liner panels, air

  1. How anchoring proteins shape pain.

    Science.gov (United States)

    Fischer, Michael J M; McNaughton, Peter A

    2014-09-01

    Cellular responsiveness to external stimuli can be altered by extracellular mediators which activate membrane receptors, in turn signalling to the intracellular space via calcium, cyclic nucleotides, membrane lipids or enzyme activity. These signalling events trigger a cascade leading to an effector which can be a channel, an enzyme or a transcription factor. The effectiveness of these intracellular events is enhanced when they are maintained in close proximity by anchoring proteins, which assemble complexes of signalling molecules such as kinases together with their targets, and in this way enhance both the speed and the precision of intracellular signalling. The A kinase anchoring protein (AKAP) family are adaptor proteins originally named for their ability to associate Protein Kinase A and its targets, but several other enzymes bound by AKAPs have now been found and a wide variety of target structures has been described. This review provides an overview of anchoring proteins involved in pain signalling. The key anchoring proteins and their ion channel targets in primary sensory neurons responding to painful stimuli (nociceptors) are discussed.

  2. 24 CFR 3285.401 - Anchoring instructions.

    Science.gov (United States)

    2010-04-01

    ... wind by use of anchor assembly type installations or by connecting the home to an alternative foundation system. See § 3285.301. (b) For anchor assembly type installations, the installation instructions... instructions and design for anchor type assemblies must be prepared by a registered professional engineer...

  3. El “Anclaje y Ajuste”, una herramienta de Marketing para analizar el poder de las referencias en el Arte, el Diseño y la Arquitectura = "Anchoring and Adjustment", a Marketing tool to analyse references in Art, Design and Architecture

    Directory of Open Access Journals (Sweden)

    Guillermo García-Badell

    2014-12-01

    , it is taken for granted that artistic and creative works' judgments are also influenced by references. However, there is a big lack of study in the way those judgments are made. From an economic point of view, we would like to describe how a product would be sold only knowing how it has been designed. However, in terms of Marketing it seems nonsensical to think about the selling consequences without studying the Consumer Behaviour before the definitive choice. The “Anchoring and Adjustment” effect describes, from a Marketing point of view, how references are needed to judge any product. Therefore, the purpose of this paper is to explain how “Anchoring and Adjustment” effect works and how it could be used to further Art, Design, and Architecture analyses.

  4. A genetic algorithm for dynamic parameters reverse deduction of integrated anchorage system

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    In the analysis of the system of anchoring bar and wall rock in small strain and longitudinal vibration dynamic response, the influence of the cement grouting as well as the rock layer on the anchor bar can be evaluated as the two kinds of parameters: the dynamic stiffness and the damp, which are the vital reference of the anchorage quality. Based on the analytic solution to the dynamic equation of the integrated anchor bar, the new approach which combines genetic algorithm and the toolbox of Matlab is applied to solve the problem of multi-parameters reverse deduction for integrated anchorage system in dynamic testing. Using the traits of the self-organizing, self-adapting and the fast convergence speed of the genetic algorithm, the optimum of all possible solutions to dynamic parameters is obtained by calculating the project instances. Examples show that the method presented in this paper is effective and reliable.

  5. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  6. Anchoring Bias in Online Voting

    CERN Document Server

    Yang, Zimo; Zhou, Tao

    2012-01-01

    Voting online with explicit ratings could largely reflect people's preferences and objects' qualities, but ratings are always irrational, because they may be affected by many unpredictable factors like mood, weather, as well as other people's votes. By analyzing two real systems, this paper reveals a systematic bias embedding in the individual decision-making processes, namely people tend to give a low rating after a low rating, as well as a high rating following a high rating. This so-called \\emph{anchoring bias} is validated via extensive comparisons with null models, and numerically speaking, the extent of bias decays with interval voting number in a logarithmic form. Our findings could be applied in the design of recommender systems and considered as important complementary materials to previous knowledge about anchoring effects on financial trades, performance judgements, auctions, and so on.

  7. Inconspicuous anchoring effects generated by false information

    Institute of Scientific and Technical Information of China (English)

    Chen Qu; Jun Wang; Yuejia Luo

    2008-01-01

    The impact of false information on numerical judgments was examined on young normal subjects by an event-related potential (ERP) experiment. To imitate the judgments in real world, we ensured the subjects acknowledged of the target task. The behavioral results found that both uncertain information and false information assimilated the final estimates: higher after higher anchors and lower after lower anchors; and false information caused a weaker anchoring bias than uncertain information. ERP results provided further electrophysiological evidence for the mechanism of anchoring. In the early phrase, it was an accessibility-dominated process in which two kinds of anchors elicited an N300 component related to the accessibility of anchors propositions. The knowledge relevant to targets joined the process in the late phrase, which caused a larger amplitude of late positive component (LPC) for implausible lower anchors than that for plausible higher anchors. Source analysis showed that medial frontal gyrus, whose activity was suggested to signal the need of adjustment, was more reliable to explain the LPC elicited by implausible lower anchors. Therefore, we suggest that accessibility is facilitated when the external anchor is consistent with the world knowledge, and adjustment is initiated when the external anchor is inconsistent.

  8. Anchoring in Numeric Judgments of Visual Stimuli.

    Science.gov (United States)

    Langeborg, Linda; Eriksson, Mårten

    2016-01-01

    This article investigates effects of anchoring in age estimation and estimation of quantities, two tasks which to different extents are based on visual stimuli. The results are compared to anchoring in answers to classic general knowledge questions that rely on semantic knowledge. Cognitive load was manipulated to explore possible differences between domains. Effects of source credibility, manipulated by differing instructions regarding the selection of anchor values (no information regarding anchor selection, information that the anchors are randomly generated or information that the anchors are answers from an expert) on anchoring were also investigated. Effects of anchoring were large for all types of judgments but were not affected by cognitive load or by source credibility in either one of the researched domains. A main effect of cognitive load on quantity estimations and main effects of source credibility in the two visually based domains indicate that the manipulations were efficient. Implications for theoretical explanations of anchoring are discussed. In particular, because anchoring did not interact with cognitive load, the results imply that the process behind anchoring in visual tasks is predominantly automatic and unconscious.

  9. Upper section for anchor timbering

    Energy Technology Data Exchange (ETDEWEB)

    Shirokov, A.P.; Isachenko, V.M.; Kuntsevich, V.I.; Pishulin, V.V.

    1983-01-01

    The purpose of the invention is to exclude rotation of the fixing device around the anchor with screwing of the tightening nut and simplification of the fixing device design. The support fixing device is made of a section of pipe and is equipped with a rotation delimiter made in the form of a female fixing device of the projection arranged on it at an angle to the longitudinal axis.

  10. Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.

    Directory of Open Access Journals (Sweden)

    Martin Mascher

    Full Text Available The rapid development of next-generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS, a low-cost, reduced representation sequencing method, is becoming a common approach for whole-genome marker profiling in many species. With quickly developing sequencing technologies, adapting current GBS methodologies to new platforms will leverage these advancements for future studies. To test new semiconductor sequencing platforms for GBS, we genotyped a barley recombinant inbred line (RIL population. Based on a previous GBS approach, we designed bar code and adapter sets for the Ion Torrent platforms. Four sets of 24-plex libraries were constructed consisting of 94 RILs and the two parents and sequenced on two Ion platforms. In parallel, a 96-plex library of the same RILs was sequenced on the Illumina HiSeq 2000. We applied two different computational pipelines to analyze sequencing data; the reference-independent TASSEL pipeline and a reference-based pipeline using SAMtools. Sequence contigs positioned on the integrated physical and genetic map were used for read mapping and variant calling. We found high agreement in genotype calls between the different platforms and high concordance between genetic and reference-based marker order. There was, however, paucity in the number of SNP that were jointly discovered by the different pipelines indicating a strong effect of alignment and filtering parameters on SNP discovery. We show the utility of the current barley genome assembly as a framework for developing very low-cost genetic maps, facilitating high resolution genetic mapping and negating the need for developing de novo genetic maps for future studies in barley. Through demonstration of GBS on semiconductor sequencing platforms, we conclude that the GBS approach is amenable to a range of platforms and can easily be modified as new

  11. Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.

    Science.gov (United States)

    Mascher, Martin; Wu, Shuangye; Amand, Paul St; Stein, Nils; Poland, Jesse

    2013-01-01

    The rapid development of next-generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS), a low-cost, reduced representation sequencing method, is becoming a common approach for whole-genome marker profiling in many species. With quickly developing sequencing technologies, adapting current GBS methodologies to new platforms will leverage these advancements for future studies. To test new semiconductor sequencing platforms for GBS, we genotyped a barley recombinant inbred line (RIL) population. Based on a previous GBS approach, we designed bar code and adapter sets for the Ion Torrent platforms. Four sets of 24-plex libraries were constructed consisting of 94 RILs and the two parents and sequenced on two Ion platforms. In parallel, a 96-plex library of the same RILs was sequenced on the Illumina HiSeq 2000. We applied two different computational pipelines to analyze sequencing data; the reference-independent TASSEL pipeline and a reference-based pipeline using SAMtools. Sequence contigs positioned on the integrated physical and genetic map were used for read mapping and variant calling. We found high agreement in genotype calls between the different platforms and high concordance between genetic and reference-based marker order. There was, however, paucity in the number of SNP that were jointly discovered by the different pipelines indicating a strong effect of alignment and filtering parameters on SNP discovery. We show the utility of the current barley genome assembly as a framework for developing very low-cost genetic maps, facilitating high resolution genetic mapping and negating the need for developing de novo genetic maps for future studies in barley. Through demonstration of GBS on semiconductor sequencing platforms, we conclude that the GBS approach is amenable to a range of platforms and can easily be modified as new sequencing

  12. A lunar/Martian anchor emplacement system

    Science.gov (United States)

    Clinton, Dustin; Holt, Andrew; Jantz, Erik; Kaufman, Teresa; Martin, James; Weber, Reed

    1993-01-01

    On the Moon or Mars, it is necessary to have an anchor, or a stable, fixed point able to support the forces necessary to rescue a stuck vehicle, act as a stake for a tent in a Martian gale, act as a fulcrum in the erection of general construction poles, or support tent-like regolith shields. The anchor emplacement system must be highly autonomous. It must supply the energy and stability for anchor deployment. The goal of the anchor emplacement system project is to design and build a prototype anchor and to design a conceptual anchor emplacement system. Various anchors were tested in a 1.3 cubic meter test bed containing decomposed granite. A simulated lunar soil was created by adjusting the moisture and compaction characteristics of the soil. We conducted tests on emplacement torque, amount of force the anchor could withstand before failure, anchor pull out force at various angles, and soil disturbances caused by placing the anchor. A single helix auger anchor performed best in this test bed based on energy to emplace, and the ultimate holding capacity. The anchor was optimized for ultimate holding capacity, minimum emplacement torque, and minimum soil disturbance in sandy soils yielding the following dimensions: helix diameter (4.45 cm), pitch (1.27 cm), blade thickness (0.15 cm), total length (35.56 cm), shaft diameter (0.78 cm), and a weight of 212.62 g. The experimental results showed that smaller diameter, single-helix augers held more force than larger diameter augers for a given depth. The emplacement system consists of a flywheel and a motor for power, sealed in a protective box supported by four legs. The flywheel system was chosen over a gear system based on its increased reliability in the lunar environment.

  13. Anchored Lagrangian submanifolds and their Floer theory

    CERN Document Server

    Fukaya, Kenji; Ohta, Hiroshi; Ono, Kaoru

    2009-01-01

    We introduce the notion of (graded) anchored Lagrangian submanifolds and use it to study the filtration of Floer' s chain complex. We then obtain an anchored version of Lagrangian Floer homology and its (higher) product structures. They are somewhat different from the more standard non-anchored version. The anchored version discussed in this paper is more naturally related to the variational picture of Lagrangian Floer theory and so to the likes of spectral invariants. We also discuss rationality of Lagrangian submanifold and reduction of the coefficient ring of Lagrangian Floer cohomology of thereof.

  14. Anchored Instruction and Anchored Assessment: An Ecological Approach to Measuring Situated Learning.

    Science.gov (United States)

    Young, Michael F.; Kulikowich, Jonna M.

    Anchored instruction and anchored assessment are described and illustrated through a mathematics problem from the Jasper problem solving series developed at Vanderbilt University in Nashville (Tennessee). Anchored instruction is instruction situated in a context complex enough to provide meaning and reasons for why information is useful. Problems…

  15. Optimization Analysis Model of Self-Anchored Suspension Bridge

    Directory of Open Access Journals (Sweden)

    Pengzhen Lu

    2014-01-01

    Full Text Available The hangers of self-anchored suspension bridge need to be tensioned suitably during construction. In view of this point, a simplified optimization calculation method of cable force for self-anchored suspension bridge has been developed based on optimization theories, such as minimum bending energy method, and internal force balanced method, influence matrix method. Meanwhile, combined with the weak coherence of main cable and the adjacently interaction of hanger forces, a simplified analysis method is developed using MATLAB, which is then compared with the optimization method that consider the main cable's geometric nonlinearity with software ANSYS in an actual example bridge calculation. This contrast proves the weak coherence of main cable displacement and the limitation of the adjacent cable force influence. Furthermore, a tension program that is of great reference value has been developed; some important conclusions, advices, and attention points have been summarized.

  16. Anchor Bolt Position in Base Plate In Terms Of T and J Anchor Bolt

    Directory of Open Access Journals (Sweden)

    b Osman Mohamad Hairi

    2017-01-01

    Full Text Available Generally, L anchor bolt system has been used for a long period of time in construction industry as one of the distributing load structures. However, there are some weaknesses in L anchor bolt which may straighten and pullup when charged with tensile load. Current practices prefer to use other types of anchor bolt systems, such as headed studs anchor bolt system to replace the L anchor bolt design. There has been lack of studies to prove that it is more effective in terms of performance. A new T anchor bolt which was basically modified from headed studs anchor bolt was proposed in this study to compare its performance of tensile loading in concrete failure to typical L design. This study aims to determine whether the T anchor bolt system gives better performance as compared to an L anchor bolt system. The performance was rated based on tensile loading on concrete failure pattern. A pullout test was conducted on two different anchor bolt systems, namely L and T. The anchor bolt embedded depth, h in concrete were varied according to their hook or bend radius. Each sample was repeated twice. There were totally eight samples. The hook or bend radius used were 50 mm and 57.5 mm for sample L1 and L2, respectively. 90-degree bend were used on sample T1 and T2. Based on test results, it can be seen that the performance of concrete failure pattern under tensile load on both L and T anchor bolt design samples with 200 mm embedment depth was better than deeper embedment depth of 230 mm. But the L anchor bolt design gives the best results as compared to T design. Although T anchor bolt design shows higher resistance before first bond failure to the concrete sample. T anchor bolt was analysed and needed deeper embedment depth to allow formation of cone pull-out shape to acquire better performance.

  17. A specific endogenous reference for genetically modified common bean (Phaseolus vulgaris L.) DNA quantification by real-time PCR targeting lectin gene.

    Science.gov (United States)

    Venturelli, Gustavo L; Brod, Fábio C A; Rossi, Gabriela B; Zimmermann, Naíra F; Oliveira, Jaison P; Faria, Josias C; Arisi, Ana C M

    2014-11-01

    The Embrapa 5.1 genetically modified (GM) common bean was approved for commercialization in Brazil. Methods for the quantification of this new genetically modified organism (GMO) are necessary. The development of a suitable endogenous reference is essential for GMO quantification by real-time PCR. Based on this, a new taxon-specific endogenous reference quantification assay was developed for Phaseolus vulgaris L. Three genes encoding common bean proteins (phaseolin, arcelin, and lectin) were selected as candidates for endogenous reference. Primers targeting these candidate genes were designed and the detection was evaluated using the SYBR Green chemistry. The assay targeting lectin gene showed higher specificity than the remaining assays, and a hydrolysis probe was then designed. This assay showed high specificity for 50 common bean samples from two gene pools, Andean and Mesoamerican. For GM common bean varieties, the results were similar to those obtained for non-GM isogenic varieties with PCR efficiency values ranging from 92 to 101 %. Moreover, this assay presented a limit of detection of ten haploid genome copies. The primers and probe developed in this work are suitable to detect and quantify either GM or non-GM common bean.

  18. Anchored Instruction in a Situated Learning Environment.

    Science.gov (United States)

    Lee, Miwha

    The purpose of this study was to design and develop a multimedia-based anchored program and to examine the effects of students' and group characteristics on the problem-solving process in anchored instruction with the multimedia program in a situated learning environment. Sixty-eight students were assigned to small groups via a stratified random…

  19. DSSC anchoring groups: a surface dependent decision.

    Science.gov (United States)

    O'Rourke, C; Bowler, D R

    2014-05-14

    Electrodes in dye sensitised solar cells are typically nanocrystalline anatase TiO2 with a majority (1 0 1) surface exposed. Generally the sensitising dye employs a carboxylic anchoring moiety through which it adheres to the TiO₂ surface. Recent interest in exploiting the properties of differing TiO₂ electrode morphologies, such as rutile nanorods exposing the (1 1 0) surface and anatase electrodes with high percentages of the (0 0 1) surface exposed, begs the question of whether this anchoring strategy is best, irrespective of the majority surface exposed. Here we address this question by presenting density functional theory calculations contrasting the binding properties of two promising anchoring groups, phosphonic acid and boronic acid, to that of carboxylic acid. Anchor-electrode interactions are studied for the prototypical anatase (1 0 1) surface, along with the anatase (0 0 1) and rutile (1 1 0) surfaces. Finally the effect of using these alternative anchoring groups to bind a typical coumarin dye (NKX-2311) to these TiO₂ substrates is examined. Significant differences in the binding properties are found depending on both the anchor and surface, illustrating that the choice of anchor is necessarily dependent upon the surface exposed in the electrode. In particular the boronic acid is found to show the potential to be an excellent anchor choice for electrodes exposing the anatase (0 0 1) surface.

  20. Method of fabrication of anchored nanostructure materials

    Science.gov (United States)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2013-11-26

    Methods for fabricating anchored nanostructure materials are described. The methods include heating a nano-catalyst under a protective atmosphere to a temperature ranging from about 450.degree. C. to about 1500.degree. C. and contacting the heated nano-catalysts with an organic vapor to affix carbon nanostructures to the nano-catalysts and form the anchored nanostructure material.

  1. Factors affecting the dynamic response of pre-stressed anchors after transient excitation

    Institute of Scientific and Technical Information of China (English)

    Xu Huijun; Li Qingfeng

    2011-01-01

    The wide application of pre-stressed bolting technology in coal mine tunnels has made the nondestructive stress wave reflection method of determining bolting quality an important one.The effect of the support plate on the dynamic response of the pre-stressed anchor is of particular interest.A theoreticalanalysis and numerical simulations are used to identify the factors affecting the contact stress between the support plate and the rock wall.A formula allowing the calculation of contact stress is presented.Stress wave propagation through the nut,support plate,and rock wall are predicted.The dynamic response signals were measured in the field using prestressed anchors pre-tightened to different torques.The effects from the support plate on the dynamic response were recorded and the results compared to the predictions of pre-stressed anchor.This work provides a theoretical reference for the signal processing of dynamic reflected wave signals in anchor bolts.

  2. The effect of accuracy motivation on anchoring and adjustment: do people adjust from provided anchors?

    Science.gov (United States)

    Simmons, Joseph P; LeBoeuf, Robyn A; Nelson, Leif D

    2010-12-01

    Increasing accuracy motivation (e.g., by providing monetary incentives for accuracy) often fails to increase adjustment away from provided anchors, a result that has led researchers to conclude that people do not effortfully adjust away from such anchors. We challenge this conclusion. First, we show that people are typically uncertain about which way to adjust from provided anchors and that this uncertainty often causes people to believe that they have initially adjusted too far away from such anchors (Studies 1a and 1b). Then, we show that although accuracy motivation fails to increase the gap between anchors and final estimates when people are uncertain about the direction of adjustment, accuracy motivation does increase anchor-estimate gaps when people are certain about the direction of adjustment, and that this is true regardless of whether the anchors are provided or self-generated (Studies 2, 3a, 3b, and 5). These results suggest that people do effortfully adjust away from provided anchors but that uncertainty about the direction of adjustment makes that adjustment harder to detect than previously assumed. This conclusion has important theoretical implications, suggesting that currently emphasized distinctions between anchor types (self-generated vs. provided) are not fundamental and that ostensibly competing theories of anchoring (selective accessibility and anchoring-and-adjustment) are complementary.

  3. Ringstone anchors from Gujarat, west coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Gaur, A.S.; Sundaresh; Tripati, S.; Bandodkar, S.N.

    of Dwarka and Somanath have yielded several ringstone anchors along with other stone anchors such as triangular and grapnel types. The raw material used for these ring stones comprises basalt, sandstone and limestone. Earlier, these anchors were identified...

  4. Advance in Developing Genetically Modified Plant Reference Material%转基因植物标准物质研究进展

    Institute of Scientific and Technical Information of China (English)

    董莲华; 赵正宜; 李亮; 隋志伟; 王晶

    2012-01-01

    转基因产品的安全性一直都备受关注,因此转基因产品的定性、定量检测越来越重要,而转基因标准物质的使用是转基因产品检测结果有效和可比的重要保证.本文针对国内外转基因植物标准物质的研究现状及相关技术进行综述,重点介绍了转基因植物标准物质的种类、转基因标准物质定值技术,分析了转基因标准物质研制过程中的关键点.更重要的是综述并提出了质粒DNA分子标准物质的定值模式,包括如何合理评价质粒分子可替代性问题,此外还总结了目前国外转基因标准物质的种类,目的是为我国转基因植物标准物质研制和相关研究提供有价值的参考.%In the p ast two decades, many countries have been paying more attention to safety of genetically modified (GM) product, and thus, qualitative and quantitative test of GM products become more and more important. The test result can be more comparable and reliable by using GM reference material. This paper reviews the research progress of GM reference material and related techniques: it introduces the variety of GM reference material and techniques of value assignment for GM reference material, and also evaluates the key procedures in developing GM reference material. More importantly, it is concluded that how to assign the reference value for the plasmid reference material including the commutability between the plasmid and genomic DNA. Additionally, it summarizes the current international GM certified reference material. This aims to provide some valuable reference for developing GM reference material in China.

  5. Anchored boundary conditions for locally isostatic networks

    Science.gov (United States)

    Theran, Louis; Nixon, Anthony; Ross, Elissa; Sadjadi, Mahdi; Servatius, Brigitte; Thorpe, M. F.

    2015-11-01

    Finite pieces of locally isostatic networks have a large number of floppy modes because of missing constraints at the surface. Here we show that by imposing suitable boundary conditions at the surface the network can be rendered effectively isostatic. We refer to these as anchored boundary conditions. An important example is formed by a two-dimensional network of corner sharing triangles, which is the focus of this paper. Another way of rendering such networks isostatic is by adding an external wire along which all unpinned vertices can slide (sliding boundary conditions). This approach also allows for the incorporation of boundaries associated with internal holes and complex sample geometries, which are illustrated with examples. The recent synthesis of bilayers of vitreous silica has provided impetus for this work. Experimental results from the imaging of finite pieces at the atomic level need such boundary conditions, if the observed structure is to be computer refined so that the interior atoms have the perception of being in an infinite isostatic environment.

  6. Development and Integration of Genome-Wide Polymorphic Microsatellite Markers onto a Reference Linkage Map for Constructing a High-Density Genetic Map of Chickpea.

    Directory of Open Access Journals (Sweden)

    Yash Paul Khajuria

    Full Text Available The identification of informative in silico polymorphic genomic and genic microsatellite markers by comparing the genome and transcriptome sequences of crop genotypes is a rapid, cost-effective and non-laborious approach for large-scale marker validation and genotyping applications, including construction of high-density genetic maps. We designed 1494 markers, including 1016 genomic and 478 transcript-derived microsatellite markers showing in-silico fragment length polymorphism between two parental genotypes (Cicer arietinum ICC4958 and C. reticulatum PI489777 of an inter-specific reference mapping population. High amplification efficiency (87%, experimental validation success rate (81% and polymorphic potential (55% of these microsatellite markers suggest their effective use in various applications of chickpea genetics and breeding. Intra-specific polymorphic potential (48% detected by microsatellite markers in 22 desi and kabuli chickpea genotypes was lower than inter-specific polymorphic potential (59%. An advanced, high-density, integrated and inter-specific chickpea genetic map (ICC4958 x PI489777 having 1697 map positions spanning 1061.16 cM with an average inter-marker distance of 0.625 cM was constructed by assigning 634 novel informative transcript-derived and genomic microsatellite markers on eight linkage groups (LGs of our prior documented, 1063 marker-based genetic map. The constructed genome map identified 88, including four major (7-23 cM longest high-resolution genomic regions on LGs 3, 5 and 8, where the maximum number of novel genomic and genic microsatellite markers were specifically clustered within 1 cM genetic distance. It was for the first time in chickpea that in silico FLP analysis at genome-wide level was carried out and such a large number of microsatellite markers were identified, experimentally validated and further used in genetic mapping. To best of our knowledge, in the presently constructed genetic map, we mapped

  7. Development and Integration of Genome-Wide Polymorphic Microsatellite Markers onto a Reference Linkage Map for Constructing a High-Density Genetic Map of Chickpea.

    Science.gov (United States)

    Khajuria, Yash Paul; Saxena, Maneesha S; Gaur, Rashmi; Chattopadhyay, Debasis; Jain, Mukesh; Parida, Swarup K; Bhatia, Sabhyata

    2015-01-01

    The identification of informative in silico polymorphic genomic and genic microsatellite markers by comparing the genome and transcriptome sequences of crop genotypes is a rapid, cost-effective and non-laborious approach for large-scale marker validation and genotyping applications, including construction of high-density genetic maps. We designed 1494 markers, including 1016 genomic and 478 transcript-derived microsatellite markers showing in-silico fragment length polymorphism between two parental genotypes (Cicer arietinum ICC4958 and C. reticulatum PI489777) of an inter-specific reference mapping population. High amplification efficiency (87%), experimental validation success rate (81%) and polymorphic potential (55%) of these microsatellite markers suggest their effective use in various applications of chickpea genetics and breeding. Intra-specific polymorphic potential (48%) detected by microsatellite markers in 22 desi and kabuli chickpea genotypes was lower than inter-specific polymorphic potential (59%). An advanced, high-density, integrated and inter-specific chickpea genetic map (ICC4958 x PI489777) having 1697 map positions spanning 1061.16 cM with an average inter-marker distance of 0.625 cM was constructed by assigning 634 novel informative transcript-derived and genomic microsatellite markers on eight linkage groups (LGs) of our prior documented, 1063 marker-based genetic map. The constructed genome map identified 88, including four major (7-23 cM) longest high-resolution genomic regions on LGs 3, 5 and 8, where the maximum number of novel genomic and genic microsatellite markers were specifically clustered within 1 cM genetic distance. It was for the first time in chickpea that in silico FLP analysis at genome-wide level was carried out and such a large number of microsatellite markers were identified, experimentally validated and further used in genetic mapping. To best of our knowledge, in the presently constructed genetic map, we mapped highest

  8. Development of a Novel Reference Plasmid for Accurate Quantification of Genetically Modified Kefeng6 Rice DNA in Food and Feed Samples

    Directory of Open Access Journals (Sweden)

    Liang Li

    2013-01-01

    Full Text Available Reference plasmids are an essential tool for the quantification of genetically modified (GM events. Quantitative real-time PCR (qPCR is the most commonly used method to characterize and quantify reference plasmids. However, the precision of this method is often limited by calibration curves, and qPCR data can be affected by matrix differences between the standards and samples. Here, we describe a digital PCR (dPCR approach that can be used to accurately measure the novel reference plasmid pKefeng6 and quantify the unauthorized variety of GM rice Kefeng6, eliminating the issues associated with matrix effects in calibration curves. The pKefeng6 plasmid was used as a calibrant for the quantification of Kefeng6 rice by determining the copy numbers of event- (77 bp and taxon-specific (68 bp fragments, their ratios, and their concentrations. The plasmid was diluted to five different concentrations. The third sample (S3 was optimized for the quantification range of dPCR according to previous reports. The ratio between the two fragments was 1.005, which closely approximated the value certified by sequencing, and the concentration was found to be 792 copies/μL. This method was precise, with an RSD of ~3%. These findings demonstrate the advantages of using the dPCR method to characterize reference materials.

  9. FOS-1 promotes basement-membrane removal during anchor-cell invasion in C. elegans.

    Science.gov (United States)

    Sherwood, David R; Butler, James A; Kramer, James M; Sternberg, Paul W

    2005-06-17

    Cell invasion through basement membranes is crucial during morphogenesis and cancer metastasis. Here, we genetically dissect this process during anchor-cell invasion into the vulval epithelium in C. elegans. We have identified the fos transcription factor ortholog fos-1 as a critical regulator of basement-membrane removal. In fos-1 mutants, the gonadal anchor cell extends cellular processes normally toward vulval cells, but these processes fail to remove the basement membranes separating the gonad from the vulval epithelium. fos-1 is expressed in the anchor cell and controls invasion cell autonomously. We have identified ZMP-1, a membrane-type matrix metalloproteinase, CDH-3, a Fat-like protocadherin, and hemicentin, a fibulin family extracellular matrix protein, as transcriptional targets of FOS-1 that promote invasion. These results reveal a key genetic network that controls basement-membrane removal during cell invasion.

  10. Azimuthal anchoring of a nematic liquid crystal on a grooved interface with anisotropic polar anchoring

    Institute of Scientific and Technical Information of China (English)

    Zhou Xuan; Zhang Zhi-Dong; Ye Wen-Jiang; Xuan Li

    2012-01-01

    Zhang Y Jet al.[Zhang Y J,Zhang Z D,Zhu L Z and Xuan L 2011 Liquid Cryst.38 355] investigated the effects of finite polar anchoring on the azimuthal anchoring energy at a grooved interface,in which polar anchoring was isotropic in the local tangent plane of the surface.In this paper,we investigate the effects of both isotropic and anisotropic polar anchoring on the surface anchoring energy in the frame of Fukuda et al.'s theory.The results show that anisotropic polar anchoring strengthens the azimuthal anchoring of grooved surfaces.In the one-elastic-constant approximation (K11 =K22 =K33 =K),the surface-groove-induced azimuthal anchoring energy is entirely consistent with the result of Faetti,and it reduces to the original result of Berreman with an increase in polar anchoring.Moreover,the contribution of the surface-like elastic term to the Rapini-Papoular anchoring energy is zero.

  11. Anchored nanostructure materials and method of fabrication

    Science.gov (United States)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2012-11-27

    Anchored nanostructure materials and methods for their fabrication are described. The anchored nanostructure materials may utilize nano-catalysts that include powder-based or solid-based support materials. The support material may comprise metal, such as NiAl, ceramic, a cermet, or silicon or other metalloid. Typically, nanoparticles are disposed adjacent a surface of the support material. Nanostructures may be formed as anchored to nanoparticles that are adjacent the surface of the support material by heating the nano-catalysts and then exposing the nano-catalysts to an organic vapor. The nanostructures are typically single wall or multi-wall carbon nanotubes.

  12. Gridded genomic libraries of different chordate species: a reference library system for basic and comparative genetic studies of chordate genomes.

    Science.gov (United States)

    Burgtorf, C; Welzel, K; Hasenbank, R; Zehetner, G; Weis, S; Lehrach, H

    1998-09-01

    The use of genomic libraries maintained in arrayed format is becoming a more and more popular tool for the analysis of molecular evolution and comparative molecular development. Being able to use already existing reference libraries considerably reduces the work load, and if results are made publicly available, it will facilitate in silica experiments in the future. Here we describe the construction and preliminary characterization of six cosmid libraries of different chordate species, Ciona intestinalis (Hemichordate), Branchiostoma floridae (Cephalochordate), Lampetra fluviatilis (Cyclostoma), Xiphophorus maculatus, and Danio rerio (Osteichthyes) in Lawrist7 and Fugu rubripes in Lawrist4.

  13. Starting point anchoring effects in choice experiments

    DEFF Research Database (Denmark)

    Ladenburg, Jacob; Olsen, Søren Bøye

    of preferences in Choice Experiments resembles the Dichotomous Choice format, there is reason to suspect that Choice Experiments are equally vulnerable to anchoring bias. Employing different sets of price levels in a so-called Instruction Choice Set presented prior to the actual choice sets, the present study......Anchoring is acknowledged as a potential source of considerable bias in Dichotomous Choice Contingent Valuation studies. Recently, another stated preference method known as Choice Experiments has gained in popularity as well as the number of applied studies. However, as the elicitation...... finds that preferences elicited by Choice Experiments can be subject to starting point anchoring bias. Different price levels provoked significantly different distributions of choice in two otherwise identical choice set designs. On a more specific level, the results indicate that the anchoring...

  14. Starting point anchoring effects in choice experiments

    DEFF Research Database (Denmark)

    Ladenburg, Jacob; Olsen, Søren Bøye

    Anchoring is acknowledged as a potential source of considerable bias in Dichotomous Choice Contingent Valuation studies. Recently, another stated preference method known as Choice Experiments has gained in popularity as well as the number of applied studies. However, as the elicitation...... of preferences in Choice Experiments resembles the Dichotomous Choice format, there is reason to suspect that Choice Experiments are equally vulnerable to anchoring bias. Employing different sets of price levels in a so-called Instruction Choice Set presented prior to the actual choice sets, the present study...... finds that preferences elicited by Choice Experiments can be subject to starting point anchoring bias. Different price levels provoked significantly different distributions of choice in two otherwise identical choice set designs. On a more specific level, the results indicate that the anchoring...

  15. The Use of Comics-Based Cases in Anchored Instruction

    Science.gov (United States)

    Kneller, Matthew F.

    2009-01-01

    The primary purpose of this research was to understand how comics fulfill the role of anchor in an anchored instruction learning environment. Anchored instruction addresses the inert knowledge problem through the use of realistic multimedia stories, or "anchors," that embed a problem and the necessary data to solve it within the narrative. In the…

  16. Anchors as Semantic Primes in Value Construction: An EEG Study of the Anchoring Effect.

    Science.gov (United States)

    Ma, Qingguo; Li, Diandian; Shen, Qiang; Qiu, Wenwei

    2015-01-01

    Previous research regarding anchoring effects has demonstrated that human judgments are often assimilated to irrelevant information. Studies have demonstrated that anchors influence the economic valuation of various products and experiences; however, the cognitive explanations of this effect remain controversial, and its neural mechanisms have rarely been explored. In the current study, we conducted an electroencephalography (EEG) experiment to investigate the anchoring effect on willingness to accept (WTA) for an aversive hedonic experience and the role of anchors in this judgment heuristic. The behavioral results demonstrated that random numbers affect participants' WTA for listening to pieces of noise. The participants asked for higher pay after comparing their WTA with higher numbers. The EEG results indicated that anchors also influenced the neural underpinnings of the valuation process. Specifically, when a higher anchor number was drawn, larger P2 and late positive potential amplitudes were elicited, reflecting the anticipation of more intensive pain from the subsequent noise. Moreover, higher anchors induced a stronger theta band power increase compared with lower anchors when subjects listened to the noises, indicating that the participants felt more unpleasant during the actual experience of the noise. The levels of unpleasantness during both anticipation and experience were consistent with the semantic information implied by the anchors. Therefore, these data suggest that a semantic priming process underlies the anchoring effect in WTA. This study provides proof for the robustness of the anchoring effect and neural evidence of the semantic priming model. Our findings indicate that activated contextual information, even seemingly irrelevant, can be embedded in the construction of economic value in the brain.

  17. Anchors as Semantic Primes in Value Construction: An EEG Study of the Anchoring Effect.

    Directory of Open Access Journals (Sweden)

    Qingguo Ma

    Full Text Available Previous research regarding anchoring effects has demonstrated that human judgments are often assimilated to irrelevant information. Studies have demonstrated that anchors influence the economic valuation of various products and experiences; however, the cognitive explanations of this effect remain controversial, and its neural mechanisms have rarely been explored. In the current study, we conducted an electroencephalography (EEG experiment to investigate the anchoring effect on willingness to accept (WTA for an aversive hedonic experience and the role of anchors in this judgment heuristic. The behavioral results demonstrated that random numbers affect participants' WTA for listening to pieces of noise. The participants asked for higher pay after comparing their WTA with higher numbers. The EEG results indicated that anchors also influenced the neural underpinnings of the valuation process. Specifically, when a higher anchor number was drawn, larger P2 and late positive potential amplitudes were elicited, reflecting the anticipation of more intensive pain from the subsequent noise. Moreover, higher anchors induced a stronger theta band power increase compared with lower anchors when subjects listened to the noises, indicating that the participants felt more unpleasant during the actual experience of the noise. The levels of unpleasantness during both anticipation and experience were consistent with the semantic information implied by the anchors. Therefore, these data suggest that a semantic priming process underlies the anchoring effect in WTA. This study provides proof for the robustness of the anchoring effect and neural evidence of the semantic priming model. Our findings indicate that activated contextual information, even seemingly irrelevant, can be embedded in the construction of economic value in the brain.

  18. The Relationship between Situated Cognition and Anchored Instruction: A Response to Tripp.

    Science.gov (United States)

    Moore, Joyce L.; And Others

    1994-01-01

    Discusses the relationship between situated cognition and anchored instruction in response to criticism of a previous article. Topics addressed include school versus nonschool settings; learning by observing models; "real-world" problem solving; transfer of training; and future work. (26 references) (LRW)

  19. Processing visual rhetoric in advertisements: Interpretations determined by verbal anchoring and visual structure

    NARCIS (Netherlands)

    Lagerwerf, L.; Hooijdonk, van C.M.J.; Korenberg, A.

    2012-01-01

    This research investigated meaning operation in relation to verbal anchoring and visual structure of visual rhetoric in advertisements. Meaning operation refers to the relation between meaningful visual elements, and determines the number of interpretations of an image. Meaning operation ‘connection

  20. A large maize (Zea mays L. SNP genotyping array: development and germplasm genotyping, and genetic mapping to compare with the B73 reference genome.

    Directory of Open Access Journals (Sweden)

    Martin W Ganal

    Full Text Available SNP genotyping arrays have been useful for many applications that require a large number of molecular markers such as high-density genetic mapping, genome-wide association studies (GWAS, and genomic selection. We report the establishment of a large maize SNP array and its use for diversity analysis and high density linkage mapping. The markers, taken from more than 800,000 SNPs, were selected to be preferentially located in genes and evenly distributed across the genome. The array was tested with a set of maize germplasm including North American and European inbred lines, parent/F1 combinations, and distantly related teosinte material. A total of 49,585 markers, including 33,417 within 17,520 different genes and 16,168 outside genes, were of good quality for genotyping, with an average failure rate of 4% and rates up to 8% in specific germplasm. To demonstrate this array's use in genetic mapping and for the independent validation of the B73 sequence assembly, two intermated maize recombinant inbred line populations - IBM (B73×Mo17 and LHRF (F2×F252 - were genotyped to establish two high density linkage maps with 20,913 and 14,524 markers respectively. 172 mapped markers were absent in the current B73 assembly and their placement can be used for future improvements of the B73 reference sequence. Colinearity of the genetic and physical maps was mostly conserved with some exceptions that suggest errors in the B73 assembly. Five major regions containing non-colinearities were identified on chromosomes 2, 3, 6, 7 and 9, and are supported by both independent genetic maps. Four additional non-colinear regions were found on the LHRF map only; they may be due to a lower density of IBM markers in those regions or to true structural rearrangements between lines. Given the array's high quality, it will be a valuable resource for maize genetics and many aspects of maize breeding.

  1. The Anchoring Effects in Differential Sources of Anchor Information:How Experimenter-Provided Anchors and Self-generated Anchors Affect the Dual-Processing Model%内在锚与外在锚对锚定效应及其双加工机制的影响

    Institute of Scientific and Technical Information of China (English)

    李斌; 徐富明; 张军伟; 刘腾飞; 蒋多; 邓子鹃

    2012-01-01

    The anchoring effect, one of the most common heuristics, refers to a phenomenon that the assimilation of a quantitative estimates a previously presented irrelative number under uncertain circumstances. Since the anchoring effect was proposed by Tversky and Kahneman in 1974 , lots of research has been done about it. Now there are two main models while account for anchoring effects:the anchoring and adjustment heuristic and the selective accessibility model. But most of researches just focused on the anchoring and adjustment heuristic or the selective accessibility model separately. In recent years, some scholars have pointed out that even if participants have a self-generated anchor, when there is an experimenter-provided anchor showing up at the same time, the processing mechanism of the anchoring effect is not only anchoring and adjustment heuristic, but also may happen to the selective accessibility model at the same time. But no research has been available to prove it yet. Therefore, this study is to try to explore the relationship between anchoring and adjustment heuristic and the selective accessibility model with the self-generated anchor and the experimenter-provided anchor showing up at the same time. A total of 64 undergraduate or graduate students were recruited and paid for their participation. The participants, were placed in separate cubicles in the laboratory, each containing a computer used to present the information and to register the dependent measures. The participants were told that the experiment was about how people made estimates. First, they had to estimate if there was predominance of capital or lower case letters in several letter combinations. After that, they had to make some probability estimates. The letter combination task was used to conceal the true purpose of our experiment. In this task, the participants had to estimate if a letter combination of six letters (e.g. MJFqRe) contained more capital letters or more lower case

  2. Biomedical applications of glycosylphosphatidylinositol-anchored proteins

    Science.gov (United States)

    Heider, Susanne; Dangerfield, John A.

    2016-01-01

    Glycosylphosphatidylinositol (GPI)-anchored proteins (GPI-APs) use a unique posttranslational modification to link proteins to lipid bilayer membranes. The anchoring structure consists of both a lipid and carbohydrate portion and is highly conserved in eukaryotic organisms regarding its basic characteristics, yet highly variable in its molecular details. The strong membrane targeting property has made the anchors an interesting tool for biotechnological modification of lipid membrane-covered entities from cells through extracellular vesicles to enveloped virus particles. In this review, we will take a closer look at the mechanisms and fields of application for GPI-APs in lipid bilayer membrane engineering and discuss their advantages and disadvantages for biomedicine. PMID:27542385

  3. Lash Transported Anchor for a Tanker Mooring.

    Science.gov (United States)

    1980-09-01

    including additional model tests, is needed. The anchor configurations presented in Figures llb and llc will function adequately for the ATTF on all...causeways at sea) and offshore oil companies (mating jacket type structures at sea). 4. A suitable anchor for rock would be twice as heavy (4,000 kips) as the...NIARINF FNVIRON. LAW .. IIAIVl’RN): Seattle "A (E. ianger): Sceittle. %%A.’ Itransportation, ( oust rUCtIo & CO1m IN %IR(.IN IA INST. OF- MARINE SOI

  4. Analysis of Cracking Mode of Anchor Structure of Underground Engineering Induced by Reinforcement Corrosion

    Directory of Open Access Journals (Sweden)

    Wantao Ding

    2014-02-01

    Full Text Available Based on elastic theory and assumption of maximum tensile-stress failure criterion, together with construction process of anchor structure and rust expansion critical process, this study proposed a simplified reinforcement rust expansion mechanical model of anchor structure system. Elastic criterion of different initial cracking mode was rewarded under different stress ratios. According to analysis of critical cracking mode of different medium, cracking order of mortar and surrounding rock depended on their material parameters, in-situ stress and thickness of mortar cover. Critical cracking conditions of different medium without effect of in-situ stress was the same as that of considering in-situ stress while k is equal to 3 or 1/3. And engineering example shows that three different cracking modes exist under different stress ratios. The result provides a useful reference for analysis of mechanical deterioration mechanism of anchor structure and design of support structure of underground engineering.

  5. SNP discovery and chromosome anchoring provide the first physically-anchored hexaploid oat map and reveal synteny with model species.

    Directory of Open Access Journals (Sweden)

    Rebekah E Oliver

    Full Text Available A physically anchored consensus map is foundational to modern genomics research; however, construction of such a map in oat (Avena sativa L., 2n = 6x = 42 has been hindered by the size and complexity of the genome, the scarcity of robust molecular markers, and the lack of aneuploid stocks. Resources developed in this study include a modified SNP discovery method for complex genomes, a diverse set of oat SNP markers, and a novel chromosome-deficient SNP anchoring strategy. These resources were applied to build the first complete, physically-anchored consensus map of hexaploid oat. Approximately 11,000 high-confidence in silico SNPs were discovered based on nine million inter-varietal sequence reads of genomic and cDNA origin. GoldenGate genotyping of 3,072 SNP assays yielded 1,311 robust markers, of which 985 were mapped in 390 recombinant-inbred lines from six bi-parental mapping populations ranging in size from 49 to 97 progeny. The consensus map included 985 SNPs and 68 previously-published markers, resolving 21 linkage groups with a total map distance of 1,838.8 cM. Consensus linkage groups were assigned to 21 chromosomes using SNP deletion analysis of chromosome-deficient monosomic hybrid stocks. Alignments with sequenced genomes of rice and Brachypodium provide evidence for extensive conservation of genomic regions, and renewed encouragement for orthology-based genomic discovery in this important hexaploid species. These results also provide a framework for high-resolution genetic analysis in oat, and a model for marker development and map construction in other species with complex genomes and limited resources.

  6. SNP Discovery and Chromosome Anchoring Provide the First Physically-Anchored Hexaploid Oat Map and Reveal Synteny with Model Species

    Science.gov (United States)

    Chao, Shiaoman; Jellen, Eric N.; Carson, Martin L.; Rines, Howard W.; Obert, Donald E.; Lutz, Joseph D.; Shackelford, Irene; Korol, Abraham B.; Wight, Charlene P.; Gardner, Kyle M.; Hattori, Jiro; Beattie, Aaron D.; Bjørnstad, Åsmund; Bonman, J. Michael; Jannink, Jean-Luc; Sorrells, Mark E.; Brown-Guedira, Gina L.; Mitchell Fetch, Jennifer W.; Harrison, Stephen A.; Howarth, Catherine J.; Ibrahim, Amir; Kolb, Frederic L.; McMullen, Michael S.; Murphy, J. Paul; Ohm, Herbert W.; Rossnagel, Brian G.; Yan, Weikai; Miclaus, Kelci J.; Hiller, Jordan; Maughan, Peter J.; Redman Hulse, Rachel R.; Anderson, Joseph M.; Islamovic, Emir

    2013-01-01

    A physically anchored consensus map is foundational to modern genomics research; however, construction of such a map in oat (Avena sativa L., 2n = 6x = 42) has been hindered by the size and complexity of the genome, the scarcity of robust molecular markers, and the lack of aneuploid stocks. Resources developed in this study include a modified SNP discovery method for complex genomes, a diverse set of oat SNP markers, and a novel chromosome-deficient SNP anchoring strategy. These resources were applied to build the first complete, physically-anchored consensus map of hexaploid oat. Approximately 11,000 high-confidence in silico SNPs were discovered based on nine million inter-varietal sequence reads of genomic and cDNA origin. GoldenGate genotyping of 3,072 SNP assays yielded 1,311 robust markers, of which 985 were mapped in 390 recombinant-inbred lines from six bi-parental mapping populations ranging in size from 49 to 97 progeny. The consensus map included 985 SNPs and 68 previously-published markers, resolving 21 linkage groups with a total map distance of 1,838.8 cM. Consensus linkage groups were assigned to 21 chromosomes using SNP deletion analysis of chromosome-deficient monosomic hybrid stocks. Alignments with sequenced genomes of rice and Brachypodium provide evidence for extensive conservation of genomic regions, and renewed encouragement for orthology-based genomic discovery in this important hexaploid species. These results also provide a framework for high-resolution genetic analysis in oat, and a model for marker development and map construction in other species with complex genomes and limited resources. PMID:23533580

  7. Diagnostic and therapeutic direct peroral cholangioscopy using an intraductal anchoring balloon

    Institute of Scientific and Technical Information of China (English)

    Mansour A Parsi; Tyler Stevens; John J Vargo

    2012-01-01

    AIM:To report our experience using a recently introduced anchoring balloon for diagnostic and therapeutic direct peroral cholangioscopy (DPOC).METHODS:Consecutive patients referred for diagnostic or therapeutic peroral cholangioscopy were evaluated in a prospective cohort study.The patients underwent DPOC using an intraductal anchoring balloon,which was recently introduced to allow consistent access to the biliary tree with an ultraslim upper endoscope.The device was later voluntarily withdrawn from the market by the manufacturer.RESULTS:Fourteen patients underwent DPOC using the anchoring balloon.Biliary access with an ultraslim upper endoscope was accomplished in all 14 patients.In 12 (86%) patients,ductal access required sphincteroplasty with a 10-mm dilating balloon.Intraductal placement of the ultraslim upper endoscope allowed satisfactory visualization of the biliary mucosa to the level of the confluence of the right and left hepatic ducts in 13 of 14 patients (93%).Therapeutic interventions by DPOC were successfully completed in all five attempted cases (intraductal biopsy in one and DPOC guided laser lithotripsy in four).Adverse events occurred in a patient on immunosuppressive therapy who developed an intrahepatic biloma at the site of the anchoring balloon.This required hospitalization and antibiotics.Repeat endoscopic retrograde cholangiopancreatography 8 wk after the index procedure showed resolution of the biloma.CONCLUSION:Use of this anchoring balloon allowed consistent access to the biliary tree for performance of diagnostic and therapeutic DPOC distal to the biliary bifurcation.

  8. Genetics Home Reference: Caffey disease

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    ... do not experience its signs or symptoms; this phenomenon is called incomplete penetrance. In some cases, an ... O, Phadke SR. COL1A1 mutation in an Indian child with Caffey disease. Indian J Pediatr. 2011 Jul; ...

  9. Genetics Home Reference: Huntington disease

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    ... an earlier onset of signs and symptoms. This phenomenon is called anticipation . People with the adult-onset ... As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may ...

  10. Genetics Home Reference: trisomy 18

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    ... All Close All Description Trisomy 18 , also called Edwards syndrome, is a chromosomal condition associated with abnormalities in ... Names for This Condition complete trisomy 18 syndrome Edwards syndrome trisomy 18 syndrome trisomy E syndrome Related Information ...

  11. Genetics Home Reference: familial porencephaly

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    ... one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex ... separate and support cells in many tissues. Type IV collagen networks play an important role in the basement ...

  12. Genetics Home Reference: Myhre syndrome

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    ... Kennedy Shriver National Institute of Child Health and Human Development: Intellectual and Developmental Disabilities National Institute on Deafness and Other Communication Disorders: Communication Considerations for Parents of Deaf and ...

  13. Genetics Home Reference: Waardenburg syndrome

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    ... types of cells, including pigment-producing cells called melanocytes . Melanocytes make a pigment called melanin, which contributes to ... of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, ...

  14. Genetics Home Reference: Tietz syndrome

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    ... development and function of pigment-producing cells called melanocytes . Within these cells, this protein controls production of ... which contributes to hair, eye, and skin color. Melanocytes are also found in the inner ear and ...

  15. Genetics Home Reference: Griscelli syndrome

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    ... genes are found in pigment-producing cells called melanocytes . Within these cells, the proteins work together to ... pigmentation). Melanosomes are formed near the center of melanocytes, but they must be transported to the outer ...

  16. Genetics Home Reference: CHOPS syndrome

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    ... individuals are born with a heart defect called patent ductus arteriosus (PDA). The ductus arteriosus is a connection between ... Pneumonia Encyclopedia: Congenital Heart Defect -- Corrective Surgery Encyclopedia: Patent Ductus ... Ventricular Septal Defect Health Topic: Congenital Heart ...

  17. Genetics Home Reference: Char syndrome

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    ... a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Most people with Char syndrome ... a triangular-shaped mouth, and thick, prominent lips. Patent ductus arteriosus is a common heart defect in newborns, and ...

  18. Genetics Home Reference: metatropic dysplasia

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    ... damage the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum); and joint ... Disease InfoSearch: Metatrophic dysplasia MalaCards: metatropic dysplasia Nemours Children's Health System Orphanet: Metatropic dysplasia Patient Support and ...

  19. Genetics Home Reference: Rotor syndrome

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    ... of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the ... Schinkel AH. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into ...

  20. Genetics Home Reference: Barth syndrome

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    ... key in maintaining mitochondrial shape, energy production, and protein transport within cells. TAZ gene mutations result in the ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  1. Genetics Home Reference: Pendred syndrome

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    ... instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  2. Genetics Home Reference: Wilson disease

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    ... body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional ... GeneReview: Wilson Disease MedlinePlus Encyclopedia: Wilson's disease National Human Genome Research Institute General Information from MedlinePlus (5 ...

  3. Genetics Home Reference: Carpenter syndrome

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    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (12 links) American Society for Surgery of the Hand: Congenital Hand Differences Boston Children's Hospital: Craniosynostosis Boston ...

  4. Genetics Home Reference: Down syndrome

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    ... in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results ... number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21 . ...

  5. Genetics Home Reference: Cushing disease

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    ... neurological problems, irregular menstruation in women, and slow growth in children. The overactive adrenal glands that produce cortisol may also produce increased amounts of male sex hormones (androgens), leading to hirsutism in females. The effect ...

  6. Genetics Home Reference: Jacobsen syndrome

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    ... disorders, which are characterized by impaired communication and socialization skills. Jacobsen syndrome is also characterized by distinctive ... they can pass the chromosome deletion to their children. Between 5 and 10 percent of people with ...

  7. Genetics Home Reference: Schindler disease

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    ... spectrum disorders are characterized by impaired communication and socialization skills. Related Information What does it mean if ... deficiency Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) ISMRD: The ...

  8. Genetics Home Reference: Noonan syndrome

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    ... Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel- ... B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri ...

  9. Genetics Home Reference: xeroderma pigmentosum

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    ... of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The ...

  10. Genetics Home Reference: mandibuloacral dysplasia

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    ... lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may ...

  11. Genetics Home Reference: Kleefstra syndrome

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    ... loss of interest and enthusiasm (apathy) or unresponsiveness (catatonia). Related Information What does it mean if a ... A. 2004 Apr 30;126A(3):278-83. Review. Citation on PubMed Kleefstra T, Brunner HG, Amiel ...

  12. Genetics Home Reference: nonsyndromic paraganglioma

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    ... controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head ... SDHD genes are each pieces (subunits) of an enzyme that is important for energy production in the ...

  13. Genetics Home Reference: lipoid proteinosis

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    ... persist throughout life and can ultimately cause difficulty speaking or complete loss of speech. Involvement of the ... hallucinations, short-term memory loss, and absence of fear. These features are thought to be associated with ...

  14. Genetics Home Reference: Norrie disease

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    ... often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction. Related Information What ... congenital progressive oculo-acoustico-cerebral degeneration Episkopi blindness Fetal iritis syndrome Norrie syndrome Norrie-Warburg syndrome Norrie's ...

  15. Genetics Home Reference: Stickler syndrome

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    ... Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  16. Genetics Home Reference: Lynch syndrome

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    ... in preparation for cell division (a process called DNA replication ). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, ...

  17. Genetics Home Reference: oculocutaneous albinism

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    ... albinism are involved in producing a pigment called melanin , which is the substance that gives skin , hair, and eyes their color. In the retina, melanin also plays a role in normal vision. Mutations ...

  18. Genetics Home Reference: Leigh syndrome

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    ... by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two ... Can changes in mitochondrial DNA affect health and development? More about Mutations and Health Inheritance Pattern Leigh ...

  19. Genetics Home Reference: Usher syndrome

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    ... T, Millán JM. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014 ... Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012 Feb; ...

  20. Genetics Home Reference: Miyoshi myopathy

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    ... tiptoe. As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock and can also involve the upper arm and shoulder muscles. Eventually, affected individuals may have difficulty climbing ...

  1. Genetics Home Reference: aromatase deficiency

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    ... development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth and blood sugar levels. During fetal development, aromatase converts androgens to estrogens in the placenta, ...

  2. Genetics Home Reference: CHARGE syndrome

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    ... of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) ... Encyclopedia: Choanal atresia MedlinePlus Encyclopedia: Coloboma MedlinePlus Encyclopedia: Facial Paralysis General Information from MedlinePlus (5 links) Diagnostic Tests ...

  3. Genetics Home Reference: dihydropyrimidinase deficiency

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    ... Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann ... on PubMed van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, Tamaki N, ...

  4. Genetics Home Reference: Omenn syndrome

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    ... Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals ... Diseases Educational Resources (9 links) Boston Children's Hospital: Severe Combined Immunodeficiency (SCID) in Children Disease InfoSearch: Omenn syndrome Great ...

  5. Genetics Home Reference: KBG syndrome

    Science.gov (United States)

    ... of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 ... with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ...

  6. Genetics Home Reference: warfarin sensitivity

    Science.gov (United States)

    ... SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. ... or Free article on PubMed Central van der Zee SA, Halperin JL. Anticoagulant therapy: warfarin sensitivity genotyping ...

  7. Genetics Home Reference: Bloom syndrome

    Science.gov (United States)

    ... 1 link) BLOOM SYNDROME Sources for This Page Amor-Guéret M. Bloom syndrome, genomic instability and cancer: ... Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses ...

  8. Genetics Home Reference: Tangier disease

    Science.gov (United States)

    ... C, Patsch W, Baralle FE, Dallinga-Thie GM, Geisel J, Keller C, Menys VC, Schmitz G. Screening ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  9. Genetics Home Reference: fumarase deficiency

    Science.gov (United States)

    ... an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use ... with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for ...

  10. Genetics Home Reference: Knobloch syndrome

    Science.gov (United States)

    ... E, de Oliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR. Novel pathogenic mutations ... be used as a substitute for professional medical care or advice. Users with questions about a personal ...

  11. Genetics Home Reference: Kabuki syndrome

    Science.gov (United States)

    ... Central Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato ... N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa ...

  12. Genetics Home Reference: lamellar ichthyosis

    Science.gov (United States)

    ... Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian ... Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian ...

  13. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... affect cell development and function. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. ... 1 blocks cell growth and division (proliferation) until Sonic Hedgehog is attached. The PTCH1 gene is a tumor ...

  14. Genetics Home Reference: acrocallosal syndrome

    Science.gov (United States)

    ... are part of a chemical signaling pathway called Sonic Hedgehog signaling. This pathway is involved in cell growth, ... KIF7 or GLI3 gene are thought to impair Sonic Hedgehog signaling, which has wide-ranging effects on development ...

  15. Genetics Home Reference: systemic scleroderma

    Science.gov (United States)

    ... the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  16. Genetics Home Reference: Mabry syndrome

    Science.gov (United States)

    ... Sources for This Page Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, ... 2010 Jan 18. Citation on PubMed Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier ...

  17. Genetics Home Reference: Dupuytren contracture

    Science.gov (United States)

    ... tissue under the skin of the palm (palmar fascia). Fascia is a type of connective tissue , which supports ... body. In Dupuytren contracture the thickening of the fascia typically first appears as one or more small ...

  18. Genetics Home Reference: multiple sclerosis

    Science.gov (United States)

    ... or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms ...

  19. Genetics Home Reference: isolated hyperchlorhidrosis

    Science.gov (United States)

    ... molecule (bicarbonate ion) and a positively charged hydrogen atom (known as a proton). The presence of protons ... Alkrinawi S, Birk OS, Parvari R, Hershkovitz E. Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due ...

  20. Genetics Home Reference: ovarian cancer

    Science.gov (United States)

    ... mutations, are not inherited. Somatic mutations in the TP53 gene occur in almost half of all ovarian ... PALB2 PIK3CA PMS2 PRKN RAD50 RAD51C RAD51D STK11 TP53 Related Information What is a gene? What is ...

  1. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in ... an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a ...

  2. Genetics Home Reference: Hartsfield syndrome

    Science.gov (United States)

    ... that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Most of these ... has an FGFR1 gene mutation only in the sperm or egg cells. This phenomenon is called germline mosaicism. Less ...

  3. Genetics Home Reference: metachromatic leukodystrophy

    Science.gov (United States)

    ... years or later. Often behavioral problems such as alcoholism, drug abuse, or difficulties at school or work ... with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase ...

  4. Genetics Home Reference: Fabry disease

    Science.gov (United States)

    ... AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: ... Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: guidelines for the evaluation and ...

  5. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Testing Registry: Alport syndrome, X-linked recessive Other Diagnosis and Management Resources (3 links) GeneReview: Alport Syndrome and Thin Basement Membrane Nephropathy MedlinePlus Encyclopedia: Alport Syndrome MedlinePlus Encyclopedia: End-Stage ...

  6. Genetics Home Reference: familial erythrocytosis

    Science.gov (United States)

    ... erythrocytosis. Annu Rev Pathol. 2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review. Citation on PubMed McMullin MF. HIF pathway mutations and erythrocytosis. Expert Rev Hematol. 2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68. Review. Citation on ...

  7. Genetics Home Reference: renal hypouricemia

    Science.gov (United States)

    ... hypouricemia , they have an increased risk of developing kidney stones (nephrolithiasis) formed from uric acid crystals. These uric acid ... of the mutated gene will develop uric acid kidney stones. Related Information What does it mean if a ...

  8. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence ...

  9. Genetics Home Reference: cutis laxa

    Science.gov (United States)

    ... this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs ... copper levels in the body . In addition to sagging and inelastic skin, occipital horn syndrome is characterized ...

  10. Genetics Home Reference: oculofaciocardiodental syndrome

    Science.gov (United States)

    ... link) MICROPHTHALMIA, SYNDROMIC 2 Sources for This Page Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio- ... Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker ...

  11. Genetics Home Reference: Proteus syndrome

    Science.gov (United States)

    ... the body that grow normally. In some published case reports, mutations in a gene called PTEN have been ... 95. Review. Citation on PubMed Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN ...

  12. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

    ... legs. Most also have early-onset joint pain (osteoarthritis) and joint deformities called contractures, which restrict movement. ... 82. Citation on PubMed Reviewed : February 2008 Published : March 21, 2017 The resources on this site should ...

  13. Genetics Home Reference: Hennekam syndrome

    Science.gov (United States)

    ... or swelling caused by a buildup of fluid ( lymphedema ); and unusual facial features. Lymphangiectasia often impedes the ... covering the heart ( pericardium ), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth ...

  14. Genetics Home Reference: gnathodiaphyseal dysplasia

    Science.gov (United States)

    ... the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, ... Diagnosis and Management Resources (2 links) Cleveland Clinic: Osteomyelitis MedlinePlus Encyclopedia: Bone Mineral Density Testing General Information ...

  15. Genetics Home Reference: Refsum disease

    Science.gov (United States)

    ... Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by ...

  16. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome , the thromboses can develop in ... Obstetrical Anti-Phospholipid Antibody Syndrome March of Dimes: Thrombophilias National Blood Clot Alliance ClinicalTrials.gov (1 link) ...

  17. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Disorders ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) RETT SYNDROME Sources for This Page Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 8;56(3):422-37. ...

  18. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... 2006 Jan 31. Citation on PubMed or Free article on PubMed Central Eckert MA, Galaburda AM, Mills DL, Bellugi U, Korenberg JR, Reiss AL. The neurobiology of Williams syndrome: cascading influences of visual system ...

  19. Genetics Home Reference: Perry syndrome

    Science.gov (United States)

    ... 2008 Aug 23. Citation on PubMed or Free article on PubMed Central Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord. 2008;14(1):1-7. ...

  20. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  1. Genetics Home Reference: Robinow syndrome

    Science.gov (United States)

    ... O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson ... Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL. WNT5A mutations in ...

  2. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... 1):33-5. Citation on PubMed Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen ... de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description ...

  3. Genetics Home Reference: desmoid tumor

    Science.gov (United States)

    ... The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused ... occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of ...

  4. Genetics Home Reference: centronuclear myopathy

    Science.gov (United States)

    ... called sarcomeres . Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. TTN gene mutations decrease or alter titin's activity in muscle fibers. It is unclear how these ... Dystrophy UK: Muscular Dystrophies Myotubular ...

  5. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (7 links) ...

  6. Genetics Home Reference: bladder cancer

    Science.gov (United States)

    ... Cancer Survivorship ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) BLADDER CANCER Sources for This Page American Cancer Society: What Are the Key Statistics for Bladder Cancer? Bryan RT, Hussain SA, James ...

  7. Genetics Home Reference: androgenetic alopecia

    Science.gov (United States)

    ... loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and ...

  8. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... Costello Syndrome Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, ... 7. Citation on PubMed Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Somatic mosaicism ...

  9. Genetics Home Reference: Renpenning syndrome

    Science.gov (United States)

    ... A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Novel truncating mutations ... Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE. Golabi-Ito-Hall syndrome results ...

  10. Genetics Home Reference: Christianson syndrome

    Science.gov (United States)

    ... Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. SLC9A6 mutations cause ... Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Natural history of ...

  11. Genetics Home Reference: FG syndrome

    Science.gov (United States)

    ... Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital ... Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Behavior of 10 patients with FG syndrome ( ...

  12. Anchoring the Panic Disorder Severity Scale

    Science.gov (United States)

    Keough, Meghan E.; Porter, Eliora; Kredlow, M. Alexandra; Worthington, John J.; Hoge, Elizabeth A.; Pollack, Mark H.; Shear, M. Katherine; Simon, Naomi M.

    2012-01-01

    The Panic Disorder Severity Scale (PDSS) is a clinician-administered measure of panic disorder symptom severity widely used in clinical research. This investigation sought to provide clinically meaningful anchor points for the PDSS both in terms of clinical severity as measured by the Clinical Global Impression-Severity Scale (CGI-S) and to extend…

  13. The bone-anchored hearing aid

    DEFF Research Database (Denmark)

    Foghsgaard, Søren

    2014-01-01

    The bone-anchored hearing aid (Baha) was introduced in 1977 by Tjellström and colleagues and has now been used clinically for over 30 years. Generally, the outcomes are good, and several studies have shown improved audiological- and quality of life outcomes. The principle of the Baha is, that sound...

  14. Multimodality of Learning Through Anchored Instruction

    Science.gov (United States)

    Love, Mary Susan

    2004-01-01

    Multimodality of learning results from the intertextual relationship between multimodal design and other meaning-making modes. Meaning making is becoming more multimodal because language is continually reshaped by new forms of communication media. This article examines anchored instruction from a multimodal perspective. The first section includes…

  15. Effects of Media Attributes in Anchored Instruction.

    Science.gov (United States)

    Shyu, Hsin-Yih

    1999-01-01

    Investigates the effects of computer-assisted video-based anchored instruction on promoting students' attitudes toward mathematical instruction and problem-solving skills. Examines the effects of different media attributes on students' mathematical achievement and attitudes in a situated learning environment. Findings suggest that anchored…

  16. Anchor Stress Checking of Security Injection Tank

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    The intention of the calculating is to check the anchor stresses of the security injection tank to know whether the stress is satisfied the code requirements on the basis of all the reaction forces gained in the static, seismic and thermal stress results.

  17. The "Anchor" Method: Principle and Practice.

    Science.gov (United States)

    Selgin, Paul

    This report discusses the "anchor" language learning method that is based upon derivation rather than construction, using Italian as an example of a language to be learned. This method borrows from the natural process of language learning as it asks the student to remember whole expressions that serve as vehicles for learning both words and rules,…

  18. Fouled Anchors: The CONSTELLATION Question Answered

    Science.gov (United States)

    1991-09-01

    1711804 87AU 73 89-1-3401 11. TITLE (kcn e S.cE) Caut,.cawn) Fouled Anchors: The Constellation Question Answered IL. PERSONA .. AUTHOPS) Wegner, Dana M...was familia , with the unaltered Constellation in Newport and, unknown to the Committee, had indeed visited the ship once in Baltimore (see p. 45). It is

  19. Predicting Anchor Links between Heterogeneous Social Networks

    CERN Document Server

    Sajadmanesh, Sina; Khodadadi, Ali

    2016-01-01

    People usually get involved in multiple social networks to enjoy new services or to fulfill their needs. Many new social networks try to attract users of other existing networks to increase the number of their users. Once a user (called source user) of a social network (called source network) joins a new social network (called target network), a new inter-network link (called anchor link) is formed between the source and target networks. In this paper, we concentrated on predicting the formation of such anchor links between heterogeneous social networks. Unlike conventional link prediction problems in which the formation of a link between two existing users within a single network is predicted, in anchor link prediction, the target user is missing and will be added to the target network once the anchor link is created. To solve this problem, we use meta-paths as a powerful tool for utilizing heterogeneous information in both the source and target networks. To this end, we propose an effective general meta-pat...

  20. Finding Chemical Anchors in the Kitchen

    Science.gov (United States)

    Haim, Liliana

    2005-01-01

    ''The Chemistry Kitchen'', a unit composed of five activities with kitchen elements for elementary students ages 9-11, introduces the children to the skills and chemical working ideas to be used later as anchors for chemical concepts. These activities include kitchen elements, determining the relative mass and so on.

  1. Anchor cell invasion into the vulval epithelium in C. elegans.

    Science.gov (United States)

    Sherwood, David R; Sternberg, Paul W

    2003-07-01

    An understanding of cell-invasive behavior has been limited by the lack of in vivo models where this activity can be clearly visualized and manipulated. We show that a single cell in the Caenorhabditis elegans gonad, the anchor cell (AC), initiates uterine-vulval contact through a cell invasion event. Using genetic analysis, laser ablations, and cell-specific markers, we demonstrate that AC invasion is predominantly stimulated by the 1 degrees vulval lineage cells, which generate a diffusible signal that promotes AC invasive behavior toward these cells and further targets invasive processes between the two central 1 degrees vulval lineage cells. We also show that AC invasion is regulated by the AC response to this cue, as well as a vulval-independent mechanism that weakly drives invasion. These studies dissect the regulatory mechanisms that underlie a simple cell-invasive behavior in vivo, and introduce AC invasion as a model for understanding key checkpoints controlling cell invasion.

  2. Stone anchors of India: Findings, classification and significance.

    Digital Repository Service at National Institute of Oceanography (India)

    Tripati, S.

    and size do not resemble the anchors found during maritime archaeological explorations since 1986. The stone anchors until now recovered from many sites of India can broadly be classified into four types: namely composite, Indo-Arabian, ring stone (mushroom...

  3. Improved Transient Performance of a Fuzzy Modified Model Reference Adaptive Controller for an Interacting Coupled Tank System Using Real-Coded Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Asan Mohideen Khansadurai

    2014-01-01

    Full Text Available The main objective of the paper is to design a model reference adaptive controller (MRAC with improved transient performance. A modification to the standard direct MRAC called fuzzy modified MRAC (FMRAC is used in the paper. The FMRAC uses a proportional control based Mamdani-type fuzzy logic controller (MFLC to improve the transient performance of a direct MRAC. The paper proposes the application of real-coded genetic algorithm (RGA to tune the membership function parameters of the proposed FMRAC offline so that the transient performance of the FMRAC is improved further. In this study, a GA based modified MRAC (GAMMRAC, an FMRAC, and a GA based FMRAC (GAFMRAC are designed for a coupled tank setup in a hybrid tank process and their transient performances are compared. The results show that the proposed GAFMRAC gives a better transient performance than the GAMMRAC or the FMRAC. It is concluded that the proposed controller can be used to obtain very good transient performance for the control of nonlinear processes.

  4. Anchored Instruction and Its Relationship to Situated Cognition.

    Science.gov (United States)

    Educational Researcher, 1990

    1990-01-01

    Discusses anchored instruction, a teaching technique using videodisc-based problem-solving environments, and describes two research projects involving anchored instruction. Argues that anchored instruction provides a way to recreate and improve upon some of the advantages of situated cognition. (FMW)

  5. Anchored Instruction for Chinese Students: Enhancing Attitudes toward Mathematics.

    Science.gov (United States)

    Shyu, Hsin-Yih

    1997-01-01

    The purpose of this study was to develop a videodisc-based computer-aided multimedia-anchored instruction for Chinese students and to examine its effects on student attitudes toward mathematics and anchored instruction. Participants were 74 fifth graders. Results indicated that anchored instruction improved students' attitudes toward mathematics…

  6. Students' Anchoring Predisposition: An Illustration from Spring Training Baseball

    Science.gov (United States)

    Mohrweis, Lawrence C.

    2014-01-01

    The anchoring tendency results when decision makers anchor on initial values and then make final assessments that are adjusted insufficiently away from the initial values. The professional literature recognizes that auditors often risk falling into the judgment trap of anchoring and adjusting (Ranzilla et al., 2011). Students may also be unaware…

  7. A general pipeline for the development of anchor markers for comparative genomics in plants

    Directory of Open Access Journals (Sweden)

    Stougaard Jens

    2006-08-01

    Full Text Available Abstract Background Complete or near-complete genomic sequence information is presently only available for a few plant species representing a large phylogenetic diversity among plants. In order to effectively transfer this information to species lacking sequence information, comparative genomic tools need to be developed. Molecular markers permitting cross-species mapping along co-linear genomic regions are central to comparative genomics. These "anchor" markers, defining unique loci in genetic linkage maps of multiple species, are gene-based and possess a number of features that make them relatively sparse. To identify potential anchor marker sequences more efficiently, we have established an automated bioinformatic pipeline that combines multi-species Expressed Sequence Tags (EST and genome sequence data. Results Taking advantage of sequence data from related species, the pipeline identifies evolutionarily conserved sequences that are likely to define unique orthologous loci in most species of the same phylogenetic clade. The key features are the identification of evolutionarily conserved sequences followed by automated design of intron-flanking Polymerase Chain Reaction (PCR primer pairs. Polymorphisms can subsequently be identified by size- or sequence variation of PCR products, amplified from mapping parents or populations. We illustrate our procedure in legumes and grasses and exemplify its application in legumes, where model plant studies and the genome- and EST-sequence data available have a potential impact on the breeding of crop species and on our understanding of the evolution of this large and diverse family. Conclusion We provide a database of 459 candidate anchor loci which have the potential to serve as map anchors in more than 18,000 legume species, a number of which are of agricultural importance. For grasses, the database contains 1335 candidate anchor loci. Based on this database, we have evaluated 76 candidate anchor loci

  8. Composite materials formed with anchored nanostructures

    Energy Technology Data Exchange (ETDEWEB)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2015-03-10

    A method of forming nano-structure composite materials that have a binder material and a nanostructure fiber material is described. A precursor material may be formed using a mixture of at least one metal powder and anchored nanostructure materials. The metal powder mixture may be (a) Ni powder and (b) NiAl powder. The anchored nanostructure materials may comprise (i) NiAl powder as a support material and (ii) carbon nanotubes attached to nanoparticles adjacent to a surface of the support material. The process of forming nano-structure composite materials typically involves sintering the mixture under vacuum in a die. When Ni and NiAl are used in the metal powder mixture Ni.sub.3Al may form as the binder material after sintering. The mixture is sintered until it consolidates to form the nano-structure composite material.

  9. Electrochromic mirror using viologen-anchored nanoparticles

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Han Na [Electronics and Telecommunications Research Institute, Nature-mimic I/O interface Research Section, 218 Gajeong-roYuseong-gu, Daejeon 305-700 (Korea, Republic of); University of Science and Technology, Advanced Device Technology, 217 Gajeong-roYuseong-gu, Daejeon 305-350 (Korea, Republic of); Cho, Seong M.; Ah, Chil Seong; Song, Juhee; Ryu, Hojun; Kim, Yong Hae [Electronics and Telecommunications Research Institute, Nature-mimic I/O interface Research Section, 218 Gajeong-roYuseong-gu, Daejeon 305-700 (Korea, Republic of); Kim, Tae-Youb, E-mail: youby@etri.re.kr [Electronics and Telecommunications Research Institute, Nature-mimic I/O interface Research Section, 218 Gajeong-roYuseong-gu, Daejeon 305-700 (Korea, Republic of); University of Science and Technology, Advanced Device Technology, 217 Gajeong-roYuseong-gu, Daejeon 305-350 (Korea, Republic of)

    2016-10-15

    Highlights: • Three types of ECM device were fabricated using viologen-anchored ECDs. • The devices were investigated according to their optical structures. • The anti-reflection material affects the reflectance and the coloration efficiency. • The device design of ECMs is a crucial factor for clear reflected images. - Abstract: Electrochromic mirrors (ECMs) that are used in automobile mirrors need to have high reflectance, a high contrast ratio, and a clear image. In particular, it is critical that distortions of clear images are minimized for safety. Therefore, an ECM is fabricated using viologen-anchored nanoparticles and a magnesium fluoride (MgF{sub 2}) layer with an anti-reflection function. The ECM has approximately 30.42% in the reflectance dynamic range and 125 cm{sup 2}/C high coloration efficiency.

  10. An Analytical Method for Positioning Drag Anchors in Seabed Soils

    Institute of Scientific and Technical Information of China (English)

    张炜; 刘海笑; 李新仲; 李清平; 曹静

    2015-01-01

    Positioning drag anchors in seabed soils are strongly influenced not only by the properties of the anchor and soil, but also by the characteristics of the installation line. The investigation on the previous prediction methods related to anchor positioning demonstrates that the prediction of the anchor position during dragging has inevitably introduced some key and unsubstantiated hypotheses and the applicability of these methods is limited. In the present study, the interactional system between the drag anchor and installation line is firstly introduced for the analysis of anchor positioning. Based on the two mechanical models for embedded lines and drag anchors, the positioning equations for drag anchors have been derived both for cohesive and noncohesive soils. Since the drag angle at the shackle is the most important parameter in the positioning equations, a novel analytical method that can predict both the variation and the exact value of the drag angle at the shackle is proposed. The analytical method for positioning drag anchors which combines the interactional system between the drag anchor and the installation line has provided a reasonable theoretic approach to investigate the anchor behaviors in soils. By comparing with the model flume experiments, the sensitivity, effectiveness and veracity of the positioning method are well verified.

  11. Anchored Instruction: Situiertes Lernen in multimedialen Lernumgebungen

    OpenAIRE

    2001-01-01

    «Anchored Instruction» ist ein konstruktivistischer Ansatz aus den USA, dessen Vertreter technologisch unterstützte, situierte Lernumgebungen für verschiedene schulische Fächer und Altersstufen entwickeln, implementieren und erforschen. Wichtige Ziele, Gestaltungsprinzipien und Merkmale solcher Lernumgebungen sowie ihre Implementation im Unterricht werden anhand von zwei Anwendungen näher dargestellt: (1) «The Adventures of Jasper Woodbury», eine Serie von Video-Geschichten und Zusatzmaterial...

  12. Recording intracellular molecular events from the outside: glycosylphosphatidylinositol-anchored avidin as a reporter protein for in vivo imaging.

    NARCIS (Netherlands)

    Lehmann, S.A.; Garayoa, E.G.; Blanc, A.; Keist, R.; Schibli, R.; Rudin, M.

    2011-01-01

    With the emergence of multimodal imaging strategies, genetically encoded reporters that can be flexibly combined with any imaging modality become highly attractive. Here we describe the use of glycosylphosphatidylinositol (GPI)-anchored avidin, an avidin moiety targeted to the extracellular side of

  13. Developing an "anchor" system to enhance postural control.

    Science.gov (United States)

    Mauerberg-deCastro, Eliane

    2004-07-01

    This article uses an anchor metaphor to explain the dynamic interplay between the human body's active uses of nonrigid tools to mediate information about its adjacent environment to enhance postural control. The author used an "anchor" system (ropes attached to varying weights resting on the floor) to test blindfolded adults who performed a restricted-balance task (30 s one-foot standing). Participants were tested while holding the anchors under a variety of weight conditions (125 g, 250 g, 500 g, and 1 kg) and again during a baseline condition (no anchors). When compared with the baseline condition, there was a significant reduction in the amount of body sway across the anchor conditions. The author found that mechanical support provided by the anchor system was secondary to its haptic exploratory function and that an individual can use the anchoring strategy with a dual purpose: for resting and for reorientation after intrinsic disruptions.

  14. Anchoring properties of substrate with a grating surface

    Institute of Scientific and Technical Information of China (English)

    Ye Wen-Jiang; Xing Hong-Yu; Yang Guo-Chen

    2007-01-01

    The anchoring properties of substrate with a grating surface are investigated analytically. The alignment of nematic liquid crystal (NLC) in a grating surface originates from two mechanisms, thus the anchoring energy consists of two parts. One originates from the interaction potential between NLC molecules and the molecules on the substrate surface,and the other stems from the increased elastic strain energy. Based on the two mechanisms, the expression of anchoring energy per unit area of a projected plane of this grating surface is deduced and called the equivalent anchoring energy formula. Both the strength and the easy direction of equivalent anchoring energy are a function of the geometrical parameters (amplitude and pitch) of a grating surface. By using this formula, the grating surface can be replaced by its projected plane and its anchoring properties can be described by the equivalent anchoring energy formula.

  15. Anchored design of protein-protein interfaces.

    Directory of Open Access Journals (Sweden)

    Steven M Lewis

    Full Text Available BACKGROUND: Few existing protein-protein interface design methods allow for extensive backbone rearrangements during the design process. There is also a dichotomy between redesign methods, which take advantage of the native interface, and de novo methods, which produce novel binders. METHODOLOGY: Here, we propose a new method for designing novel protein reagents that combines advantages of redesign and de novo methods and allows for extensive backbone motion. This method requires a bound structure of a target and one of its natural binding partners. A key interaction in this interface, the anchor, is computationally grafted out of the partner and into a surface loop on the design scaffold. The design scaffold's surface is then redesigned with backbone flexibility to create a new binding partner for the target. Careful choice of a scaffold will bring experimentally desirable characteristics into the new complex. The use of an anchor both expedites the design process and ensures that binding proceeds against a known location on the target. The use of surface loops on the scaffold allows for flexible-backbone redesign to properly search conformational space. CONCLUSIONS AND SIGNIFICANCE: This protocol was implemented within the Rosetta3 software suite. To demonstrate and evaluate this protocol, we have developed a benchmarking set of structures from the PDB with loop-mediated interfaces. This protocol can recover the correct loop-mediated interface in 15 out of 16 tested structures, using only a single residue as an anchor.

  16. The Role of Anchor Stations in the Validation of Earth Observation Satellite Data and Products. The Valencia and the Alacant Anchor Stations

    Science.gov (United States)

    Lopez-Baeza, Ernesto; Geraldo Ferreira, A.; Saleh-Contell, Kauzar

    Space technology facilitates humanity and science with a global revolutionary view of the Earth through the acquisition of Earth Observation satellite data. Satellites capture information over different spatial and temporal scales and assist in understanding natural climate processes and in detecting and explaining climate change. Accurate Earth Observation data is needed to describe climate processes by improving the parameterisations of different climate elements. Algorithms to produce geophysical parameters from raw satellite observations should go through selection processes or participate in inter-comparison programmes to ensure performance reliability. Geophysical parameter datasets, obtained from satellite observations, should pass a quality control before they are accepted in global databases for impact, diagnostic or sensitivity studies. Calibration and Validation, or simply "Cal/Val", is the activity that endeavours to ensure that remote sensing products are highly consistent and reproducible. This is an evolving scientific activity that is becoming increasingly important as more long-term studies on global change are undertaken, and new satellite missions are launched. Calibration is the process of quantitatively defining the system responses to known, controlled signal inputs. Validation refers to the process of assessing, by independent means, the quality of the data products derived from the system outputs. These definitions are generally accepted and most often used in the remote sensing context to refer specifically and respectively to sensor radiometric calibration and geophysical parameter validation. Anchor Stations are carefully selected locations at which instruments measure quantities that are needed to run, calibrate or validate models and algorithms. These are needed to quanti-tatively evaluate satellite data and convert it into geophysical information. The instruments collect measurements of basic quantities over a long timescale

  17. Robotic Ankle for Omnidirectional Rock Anchors

    Science.gov (United States)

    Parness, Aaron; Frost, Matthew; Thatte, Nitish

    2013-01-01

    Future robotic exploration of near-Earth asteroids and the vertical and inverted rock walls of lava caves and cliff faces on Mars and other planetary bodies would require a method of gripping their rocky surfaces to allow mobility without gravitational assistance. In order to successfully navigate this terrain and drill for samples, the grippers must be able to produce anchoring forces in excess of 100 N. Additionally, the grippers must be able to support the inertial forces of a moving robot, as well gravitational forces for demonstrations on Earth. One possible solution would be to use microspine arrays to anchor to rock surfaces and provide the necessary load-bearing abilities for robotic exploration of asteroids. Microspine arrays comprise dozens of small steel hooks supported on individual suspensions. When these arrays are dragged along a rock surface, the steel hooks engage with asperities and holes on the surface. The suspensions allow for individual hooks to engage with asperities while the remaining hooks continue to drag along the surface. This ensures that the maximum possible number of hooks engage with the surface, thereby increasing the load-bearing abilities of the gripper. Using the microspine array grippers described above as the end-effectors of a robot would allow it to traverse terrain previously unreachable by traditional wheeled robots. Furthermore, microspine-gripping robots that can perch on cliffs or rocky walls could enable a new class of persistent surveillance devices for military applications. In order to interface these microspine grippers with a legged robot, an ankle is needed that can robotically actuate the gripper, as well as allow it to conform to the large-scale irregularities in the rock. The anchor serves three main purposes: deploy and release the anchor, conform to roughness or misalignment with the surface, and cancel out any moments about the anchor that could cause unintentional detachment. The ankle design contains a

  18. FragAnchor: A Large-Scale Predictor of Glycosylphosphatidylinositol Anchors in Eukaryote Protein Sequences by Qualitative Scoring

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    A glycosylphosphatidylinositol (GPI) anchor is a common but complex C-terminal post-translational modification of extracellular proteins in eukaryotes. Here we investigate the problem of correctly annotating GPI-anchored proteins for the growing number of sequences in public databases. We developed a computational system, called FragAnchor, based on the tandem use of a neural network (NN) and a hidden Markov model (HMM). Firstly, NN selects potential GPI-anchored proteins in a dataset, then HMM parses these potential GPI signals and refines the prediction by qualitative scoring. FragAnchor correctly predicted 91% of all the GPI-anchored proteins annotated in the Swiss-Prot database.In a large-scale analysis of 29 eukaryote proteomes, FragAnchor predicted that the percentage of highly probable GPI-anchored proteins is between 0.21% and 2.01%. The distinctive feature of FragAnchor, compared with other systems,is that it targets only the C-terminus of a protein, making it less sensitive to the background noise found in databases and possible incomplete protein sequences. Moreover, FragAnchor can be used to predict GPI-anchored proteins in all eukaryotes. Finally, by using qualitative scoring, the predictions combine both sensitivity and information content. The predictor is publicly available at http: // navet. ics. hawaii.edu/~fraganchor/NNHMM/NNHMM.html.

  19. Dynamic performance of concrete undercut anchors for Nuclear Power Plants

    Energy Technology Data Exchange (ETDEWEB)

    Mahrenholtz, Christoph, E-mail: christoph@mahrenholtz.net; Eligehausen, Rolf

    2013-12-15

    Graphical abstract: - Highlights: • Behavior of undercut anchors under dynamic actions simulating earthquakes. • First high frequency load and crack cycling tests on installed concrete anchors ever. • Comprehensive review of anchor qualification for Nuclear Power Plants. - Abstract: Post-installed anchors are widely used for structural and nonstructural connections to concrete. In many countries, concrete anchors used for Nuclear Power Plants have to be qualified to ensure reliable behavior even under extreme conditions. The tests required for qualification of concrete anchors are carried out at quasi-static loading rates well below the rates to be expected for dynamic actions deriving from earthquakes, airplane impacts or explosions. To investigate potentially beneficial effects of high loading rates and cycling frequencies, performance tests on installed undercut anchors were conducted. After introductory notes on anchor technology and a comprehensive literature review, this paper discusses the qualification of anchors for Nuclear Power Plants and the testing carried out to quantify experimentally the effects of dynamic actions on the load–displacement behavior of undercut anchors.

  20. Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain: delimitation and mechanism of three novel BRCA1 rearrangements.

    Directory of Open Access Journals (Sweden)

    Laura Fachal

    Full Text Available In the Iberian Peninsula, which includes mainly Spain and Portugal, large genomic rearrangements (LGRs of BRCA1 and BRCA2 have respectively been found in up to 2.33% and 8.4% of families with hereditary breast and/or ovarian cancer (HBOC that lack point mutations and small indels. In Galicia (Northwest Spain, the spectrum and frequency of BRCA1/BRCA2 point mutations differs from the rest of the Iberian populations. However, to date there are no Galician frequency reports of BRCA1/BRCA2 LGRs. Here we used multiplex ligation-dependent probe amplification (MLPA to screen 651 Galician index cases (out of the 830 individuals referred for genetic analysis without point mutations or small indels. We identified three different BRCA1 LGRs in four families. Two of them have been previously classified as pathogenic LGRs: the complete deletion of BRCA1 (identified in two unrelated families and the deletion of exons 1 to 13. We also identified the duplication of exons 1 and 2 that is a LGR with unknown pathogenicity. Determination of the breakpoints of the BRCA1 LGRs using CNV/SNP arrays and sequencing identified them as NG_005905.2:g.70536_180359del, NG_005905.2:g.90012_97270dup, and NC_000017.10:g.41230935_41399840delinsAluSx1, respectively; previous observations of BRCA1 exon1-24del, exon1-2dup, and exon1-13del LGRs have not characterized them in such detail. All the BRCA1 LGRs arose from unequal homologous recombination events involving Alu elements. We also detected, by sequencing, one BRCA2 LGR, the Portuguese founder mutation c.156_157insAluYa5. The low frequency of BRCA1 LGRs within BRCA1 mutation carriers in Galicia (2.34%, 95% CI: 0.61-7.22 seems to differ from the Spanish population (9.93%, 95% CI: 6.76-14.27, P-value = 0.013 and from the rest of the Iberian population (9.76%, 95% CI: 6.69-13.94, P-value = 0.014.

  1. Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.

    Science.gov (United States)

    Fachal, Laura; Blanco, Ana; Santamariña, Marta; Carracedo, Angel; Vega, Ana

    2014-01-01

    In the Iberian Peninsula, which includes mainly Spain and Portugal, large genomic rearrangements (LGRs) of BRCA1 and BRCA2 have respectively been found in up to 2.33% and 8.4% of families with hereditary breast and/or ovarian cancer (HBOC) that lack point mutations and small indels. In Galicia (Northwest Spain), the spectrum and frequency of BRCA1/BRCA2 point mutations differs from the rest of the Iberian populations. However, to date there are no Galician frequency reports of BRCA1/BRCA2 LGRs. Here we used multiplex ligation-dependent probe amplification (MLPA) to screen 651 Galician index cases (out of the 830 individuals referred for genetic analysis) without point mutations or small indels. We identified three different BRCA1 LGRs in four families. Two of them have been previously classified as pathogenic LGRs: the complete deletion of BRCA1 (identified in two unrelated families) and the deletion of exons 1 to 13. We also identified the duplication of exons 1 and 2 that is a LGR with unknown pathogenicity. Determination of the breakpoints of the BRCA1 LGRs using CNV/SNP arrays and sequencing identified them as NG_005905.2:g.70536_180359del, NG_005905.2:g.90012_97270dup, and NC_000017.10:g.41230935_41399840delinsAluSx1, respectively; previous observations of BRCA1 exon1-24del, exon1-2dup, and exon1-13del LGRs have not characterized them in such detail. All the BRCA1 LGRs arose from unequal homologous recombination events involving Alu elements. We also detected, by sequencing, one BRCA2 LGR, the Portuguese founder mutation c.156_157insAluYa5. The low frequency of BRCA1 LGRs within BRCA1 mutation carriers in Galicia (2.34%, 95% CI: 0.61-7.22) seems to differ from the Spanish population (9.93%, 95% CI: 6.76-14.27, P-value = 0.013) and from the rest of the Iberian population (9.76%, 95% CI: 6.69-13.94, P-value = 0.014).

  2. Endocytosis of glycosylphosphatidylinositol-anchored proteins

    Directory of Open Access Journals (Sweden)

    Sabharanjak Shefali

    2009-10-01

    Full Text Available Abstract Glycosylphosphatidylinositol-anchored proteins (GPI-APs represent an interesting amalgamation of the three basic kinds of cellular macromolecules viz. proteins, carbohydrates and lipids. An unusually hybrid moiety, the GPI-anchor is expressed in a diverse range of organisms from parasites to mammalian cells and serves to anchor a large number of functionally diverse proteins and has been the center of attention in scientific debate for some time now. Membrane organization of GPI-APs into laterally-organized cholesterol-sphingolipid ordered membrane domains or "rafts" and endocytosis of GPI-APs has been intensely debated. Inclusion into or exclusion from these membrane domains seems to be the critical factor in determining the endocytic mechanisms and intracellular destinations of GPI-APs. The intracellular signaling as well as endocytic trafficking of GPI-APs is critically dependent upon the cell surface organization of GPI-APs, and the associations with these lipid rafts play a vital role during these processes. The mechanism of endocytosis for GPI-APs may differ from other cellular endocytic pathways, such as those mediated by clathrin-coated pits (caveolae, and is necessary for unique biological functions. Numerous intracellular factors are involved in and regulate the endocytosis of GPI-APs, and these may be variably dependent on cell-type. The central focus of this article is to describe the significance of the endocytosis of GPI-APs on a multitude of biological processes, ranging from nutrient-uptake to more complex immune responses. Ultimately, a thorough elucidation of GPI-AP mediated signaling pathways and their regulatory elements will enhance our understanding of essential biological processes and benefit as components of disease intervention strategies.

  3. Reference-free time-based localization for an asynchronous target

    NARCIS (Netherlands)

    Wang, Y.; Leus, G.J.T.

    2012-01-01

    Low-complexity least-squares (LS) estimators based on time-of-arrival (TOA) or time-difference-of-arrival (TDOA) measurements have been developed to locate a target node with the help of anchors (nodes with known positions). They require to select a reference anchor in order to cancel nuisance param

  4. ANCHORING IN THE POLITICAL AND ECONOMIC MARKETING

    Directory of Open Access Journals (Sweden)

    Tatyana L. Shklyar

    2015-01-01

    Full Text Available The main purpose of marketing, both ineconomy and in politics is to attract themaximum number of customers or voters, maximizing customer satisfaction and ,ideally, improve the quality of life.The author, in various aspects, thetechnology of anchoring used in NLP, to attract customers and voters, both in the economy and in politics.In different examples demonstrate theoverall impact on the psychology of the consumer. Separating policy and the economy, marketers are missing something. The author proposes to look at how psychologicalanchors affect these two, at fi rst glance, different vector.

  5. Adsorption phenomena and anchoring energy in nematic liquid crystals

    CERN Document Server

    Barbero, Giovanni

    2005-01-01

    Despite the large quantity of phenomenological information concerning the bulk properties of nematic phase liquid crystals, little is understood about the origin of the surface energy, particularly the surface, interfacial, and anchoring properties of liquid crystals that affect the performance of liquid crystal devices. Self-contained and unique, Adsorption Phenomena and Anchoring Energy in Nematic Liquid Crystals provides an account of new and established results spanning three decades of research into the problems of anchoring energy and adsorption phenomena in liquid crystals.The book contains a detailed discussion of the origin and possible sources of anchoring energy in nematic liquid crystals, emphasizing the dielectric contribution to the anchoring energy in particular. Beginning with fundamental surface and anchoring properties of liquid crystals and the definition of the nematic phase, the authors explain how selective ion adsorption, dielectric energy density, thickness dependence, and bias voltage...

  6. Influence of Anchoring on Burial Depth of Submarine Pipelines

    OpenAIRE

    Yuan Zhuang; Yang Li; Wei Su

    2016-01-01

    Since the beginning of the twenty-first century, there has been widespread construction of submarine oil-gas transmission pipelines due to an increase in offshore oil exploration. Vessel anchoring operations are causing more damage to submarine pipelines due to shipping transportation also increasing. Therefore, it is essential that the influence of anchoring on the required burial depth of submarine pipelines is determined. In this paper, mathematical models for ordinary anchoring and emerge...

  7. Anchor-induced chondral damage in the hip.

    Science.gov (United States)

    Matsuda, Dean K; Bharam, Srino; White, Brian J; Matsuda, Nicole A; Safran, Marc

    2015-01-01

    The purpose of this study is to investigate the outcomes from anchor-induced chondral damage of the hip, both with and without frank chondral penetration. A multicenter retrospective case series was performed of patients with chondral deformation or penetration during initial hip arthroscopic surgery. Intra-operative findings, post-surgical clinical courses, hip outcome scores and descriptions of arthroscopic treatment in cases requiring revision surgery and anchor removal are reported. Five patients (three females) of mean age 32 years (range, 16-41 years) had documented anchor-induced chondral damage with mean 3.5 years (range, 1.5-6.0 years) follow-up. The 1 o'clock position (four cases) and anterior and mid-anterior portals (two cases each) were most commonly implicated. Two cases of anchor-induced acetabular chondral deformation without frank penetration had successful clinical and radiographic outcomes, while one case progressed from deformation to chondral penetration with clinical worsening. Of the cases that underwent revision hip arthroscopy, all three had confirmed exposed hard anchors which were removed. Two patients have had clinical improvement and one patient underwent early total hip arthroplasty. Anchor-induced chondral deformation without frank chondral penetration may be treated with close clinical and radiographic monitoring with a low threshold for revision surgery and anchor removal. Chondral penetration should be treated with immediate removal of offending hard anchor implants. Preventative measures include distal-based portals, small diameter and short anchors, removable hard anchors, soft suture-based anchors, curved drill and anchor insertion instrumentation and attention to safe trajectories while visualizing the acetabular articular surface.

  8. Anchor-induced chondral damage in the hip

    Science.gov (United States)

    Matsuda, Dean K.; Bharam, Srino; White, Brian J.; Matsuda, Nicole A.; Safran, Marc

    2015-01-01

    The purpose of this study is to investigate the outcomes from anchor-induced chondral damage of the hip, both with and without frank chondral penetration. A multicenter retrospective case series was performed of patients with chondral deformation or penetration during initial hip arthroscopic surgery. Intra-operative findings, post-surgical clinical courses, hip outcome scores and descriptions of arthroscopic treatment in cases requiring revision surgery and anchor removal are reported. Five patients (three females) of mean age 32 years (range, 16–41 years) had documented anchor-induced chondral damage with mean 3.5 years (range, 1.5–6.0 years) follow-up. The 1 o'clock position (four cases) and anterior and mid-anterior portals (two cases each) were most commonly implicated. Two cases of anchor-induced acetabular chondral deformation without frank penetration had successful clinical and radiographic outcomes, while one case progressed from deformation to chondral penetration with clinical worsening. Of the cases that underwent revision hip arthroscopy, all three had confirmed exposed hard anchors which were removed. Two patients have had clinical improvement and one patient underwent early total hip arthroplasty. Anchor-induced chondral deformation without frank chondral penetration may be treated with close clinical and radiographic monitoring with a low threshold for revision surgery and anchor removal. Chondral penetration should be treated with immediate removal of offending hard anchor implants. Preventative measures include distal-based portals, small diameter and short anchors, removable hard anchors, soft suture-based anchors, curved drill and anchor insertion instrumentation and attention to safe trajectories while visualizing the acetabular articular surface. PMID:27011815

  9. Infrastructure anchor bolt inspection program with NDE applications

    Science.gov (United States)

    Fish, Philip E.

    1996-11-01

    In 1990, Wisconsin Department of Transportation found a high mast light pole with two of six anchor bolts failed. This failure along with published reports from Michigan DOT about anchor bolt failures on cantilever sign structures, raised concern about the quality and condition of anchor bolts on the Wisconsin DOT system. Wisconsin Department of Transportation implemented an Anchor Bolt Inspection Program in 1990 for cantilever sign structures, high mast light towers, interstate light towers, and signal masts. The program requires an experienced inspection team and a practical inspection approach. Inspection preparation includes review of all background information such as design plans, design computations, construction plans, shop plans, and maintenance history. An inspection plan is developed. Special emphasis is placed on determining material type, cut or rolled threads, and type of coating for anchor bolts. Inspection emphasis are on "hands on" and Nondestructive evaluation. Special emphasis is placed on visual conditions of anchor bolts (cut or rolled threads, straightness, corrosion, nut tension etc.) along with ultrasonic inspection. This program places a strong emphasis on Non Destructive Testing (NDT), especially ultrasonic. Procedures and inspection calibrations are developed from similar anchor bolt geometry and material type. Cut notches are placed in the anchor bolts at locations of possible failure. NDT inspection calibrations are performed from these bolts. Report documentation includes all design plans, pictorial documentation of structural deficiencies, sketches, nondestructive evaluation reports, conclusions, and recommendations. This program has been successful in locating failed anchor bolts and critical cracks before failure of an entire structure.

  10. Calculation of prestressed anchor segment by 3D infiniteelement

    Institute of Scientific and Technical Information of China (English)

    Yanfen WANG; Hongyang XIE; Yuanhan WANG

    2009-01-01

    Based on 1D infinite element theory, the coordinate transformation and shape function of 3D point-radiation 4-node infinite elements were derived.They were coupled with 8-node finite elements to compute the compressive deformation of the prestressed anchor segment. The results indicate that when the prestressed force acts on the anchor segment, the stresses and displacements in the rock around the anchor segment are concentrated in the zone center with the anchor axis and are subjected to exponential decay. Therefore, the stresses and the displacement spindles are formed. The calculation results of the infinite element are close to the theoretical results.

  11. Rigid rod anchored to infinite membrane.

    Science.gov (United States)

    Guo, Kunkun; Qiu, Feng; Zhang, Hongdong; Yang, Yuliang

    2005-08-15

    We investigate the shape deformation of an infinite membrane anchored by a rigid rod. The density profile of the rod is calculated by the self-consistent-field theory and the shape of the membrane is predicted by the Helfrich membrane elasticity theory [W. Helfrich, Z. Naturforsch. 28c, 693 (1973)]. It is found that the membrane bends away from the rigid rod when the interaction between the rod and the membrane is repulsive or weakly attractive (adsorption). However, the pulled height of the membrane at first increases and then decreases with the increase of the adsorption strength. Compared to a Gaussian chain with the same length, the rigid rod covers much larger area of the membrane, whereas exerts less local entropic pressure on the membrane. An evident gap is found between the membrane and the rigid rod because the membrane's curvature has to be continuous. These behaviors are compared with that of the flexible-polymer-anchored membranes studied by previous Monte Carlo simulations and theoretical analysis. It is straightforward to extend this method to more complicated and real biological systems, such as infinite membrane/multiple chains, protein inclusion, or systems with phase separation.

  12. Genetic diversity of the mitochondrial cytochrome b gene in Lutzomyia spp., with special reference to Lutzomyia peruensis, a main vector of Leishmania (Viannia) peruviana in the Peruvian Andes.

    Science.gov (United States)

    Yamamoto, Kento; Cáceres, Abraham G; Gomez, Eduardo A; Mimori, Tatsuyuki; Iwata, Hiroyuki; Korenaga, Masataka; Sakurai, Tatsuya; Katakura, Ken; Hashiguchi, Yoshihisa; Kato, Hirotomo

    2013-05-01

    The genetic divergence caused by genetic drift and/or selection is suggested to affect the vectorial capacity and insecticide susceptibility of sand flies, as well as other arthropods. In the present study, cytochrome b (cyt b) gene sequences were determined in 13 species circulating in Peru to establish a basis for analysis of the genetic structure, and the intraspecific genetic diversity was assessed in the Lutzomyia (Lu.) peruensis, a main vector species of Leishmania (Viannia) peruviana in Peruvian Andes. Analysis of intraspecific genetic diversity in the cyt b gene sequences from 36 Lu. peruensis identified 3 highly polymorphic sites in the middle region of the gene. Haplotype and gene network analyses were performed on the cyt b gene sequences of 130 Lu. peruensis in 9 Andean areas from 3 Departments (Ancash, Lima and La Libertad). The results showed that the populations of La Libertad were highly polymorphic and that their haplotypes were distinct from those of Ancash and Lima, where dominant haplotypes were observed, suggesting that a population bottleneck may have occurred in Ancash and Lima, but not in La Libertad. The present study indicated that the middle region of the cyt b gene is useful for the analysis of genetic structure in sand fly populations.

  13. Tropolone as a High-Performance Robust Anchoring Group for Dye-Sensitized Solar Cells.

    Science.gov (United States)

    Higashino, Tomohiro; Fujimori, Yamato; Sugiura, Kenichi; Tsuji, Yukihiro; Ito, Seigo; Imahori, Hiroshi

    2015-07-27

    A tropolone group has been employed for the first time as an anchoring group for dye-sensitized solar cells (DSSCs). The DSSC based on a porphyrin, YD2-o-C8T, with a tropolone moiety exhibited a power-conversion efficiency of 7.7 %, which is only slightly lower than that observed for a reference porphyrin, YD2-o-C8, with a conventional carboxylic group. More importantly, YD2-o-C8T was found to be superior to YD2-o-C8 with respect to DSSC durability and binding ability to TiO2 . These results unambiguously demonstrate that tropolone is a highly promising dye-anchoring group for DSSCs in terms of device durability as well as photovoltaic performance.

  14. Organisation, ‘anchoring’ of knowledge, and innovation in the construction industry

    DEFF Research Database (Denmark)

    Drejer, Ina; Vinding, Anker Lund

    2004-01-01

    explanation for the relatively poor innovation performance of the industry. Using survey data from the Danish construction industry the paper investigates the importance of learning and ?anchoring? of project specific knowledge within the firms for facilitating engagement in innovative activities...... at the firm level. The data refer to the overall Danish construction industry, as well as a specific region, North Jutland, which is relatively specialised in construction. By using latent class and regression analysis the results show that firms, which to a high extent make use of partnering and other...... interorganisational features, combined with internal product and process evaluation and knowledge diffusion, are more likely to engage in innovative activities than firms that make less use of what we label ?knowledge anchoring mechanisms?. This indicates that there are ways for firms to compensate for the problems...

  15. Phylogeography and genetic divergence of some lymnaeid snails, intermediate hosts of human and animal fascioliasis with special reference to lymnaeids from the Bolivian Altiplano.

    Science.gov (United States)

    Jabbour-Zahab, R; Pointier, J P; Jourdane, J; Jarne, P; Oviedo, J A; Bargues, M D; Mas-Coma, S; Anglés, R; Perera, G; Balzan, C; Khallayoune, K; Renaud, F

    1997-04-15

    A population genetic study using starch gel electrophoresis was performed on populations of several species of lymnaeid snails acting as intermediate hosts for Fasciola hepatica (Trematoda, Plathyhelminth). Lymnaea viatrix was collected in 16 sites from the Bolivian Northern Altiplano. L. cubensis were obtained in one site from Venezuela, one site from Guadeloupe, three sites from Cuba and one site from the Dominican Republic. L. truncatula were collected in one site from France, one from Portugal and one from Morocco. Multilocus enzyme electrophoresis (MEE) were determined for 282 snails at 18 loci. A complete monomorphism was encountered at each geographic site. However, among these 18 loci, 13 are polymorphic and low and high levels of genetic divergence were observed between samples. Two genotypic groups can be differentiated by their multilocus genotypes. The western genotypic group associates together samples from Venezuela, Guadeloupe, Cuba and Dominican Republic (L. cubensis) while samples from France, Portugal and Morocco (L. truncatula) belong to the eastern genotypic group. Surprisingly, the Northern Bolivian Altiplano populations (L. viatrix) do not present any genetic divergence with the Portuguese sample. Therefore, the Bolivian snails belong entirely to the eastern genetic group. Within each group slight genetic divergences were observed. These results strongly support the European origin of the lymnaeid snails from the Northern Bolivian Altiplano.

  16. The Use of DNA Microsatellite Markers for Genetic Diversity Identifi cation of Soybean (Glycine max (L Meriil. as a Supplementary Method in Reference Collections Management

    Directory of Open Access Journals (Sweden)

    Nina Agusti Widaningsih

    2016-02-01

    Full Text Available Large number of new soybean varieties are mostly derived from crosses of elite genotypes resulted ina narrowing of both the genetic diversity and the phylogenetic relationship between soybean varieties. Thus,discrimination among soybean varieties is becoming more diffi cult, especially when morphological traits wereapplied. In Plant Variety Protection (PVP system, new varieties of soybeans including granted PVP right, localand breeding varieties registered in PVP offi ce were frequently increased, implicate on increasingly the numberof soybean varieties collections. To assist the management of varieties collections, a standard fi ngerprinting datais further needed. In comparison to the management of plant collection in the fi eld, molecular marker systemswhich are rapid, reliable, informative and relatively simple are continually sought for practical applications ingermplasm conservation, management and enhancement. This study aimed to identify the genetic diversity andphylogenetic relationship of soybean varieties that have earned PVP Right as well as local varieties and breedingvarieties registered in the PVP offi ce using microsatellite or simple sequence repeats (SSR markers.This study was conducted in Molecular Biology laboratory, Indonesian Center for Agricultural Biotechnologyand Genetic Resources Research and Development (ICABIOGRAD Bogor, from February to May 2013. The datawere analyzed using the genetic analysis package NTSYSpc 2.02i and PowerMarker V3.25. The result showed arelatively narrow genetic diversity among 45 varieties of soybean analyzed in present study which were indicatedby the small number of genotypes and total number of alleles (NA, and the low value of gene diversity and PICvalues (<0.75. Cluster analysis showed that the grouping varieties are not related to morphological characters butrelated to phylogeny relationship between varieties. Despite the group of varieties were not clustered in accordancewith morphological

  17. Anchored Instruction in Preservice Educational Technology Classes: A Research Project.

    Science.gov (United States)

    Bauer, Jeffrey W.

    This study examined the effectiveness of the anchored instruction (i.e., using a theme or anchor around which various learning activities take place) approach in preparing preservice teachers to integrate technology. Participants were 48 students enrolled in the three sections of a preservice educational technology class during the summer of 1997.…

  18. Effects of Knowledge Abstraction with Anchored Instruction on Learning Transfer.

    Science.gov (United States)

    Shih, Yu-Fen; And Others

    Transfer of learning is one of the major purposes of education. Theories and research have tried hard to answer questions such as: how does transfer occur? and how is transfer enhanced? Situated cognitive theory and research about anchored instruction together bring some positive findings. Anchored instruction provides the learner with a situated,…

  19. Using Anchored Instruction to Teach about Assistive Technology.

    Science.gov (United States)

    Blackhurst, A. Edward; Morse, Timothy E.

    1996-01-01

    A training module about assistive technology using an integrated hypermedia format and principles of anchored instruction was developed and field tested with 57 undergraduate students, graduate students, and professionals. The trainees responded positively to the anchored instruction. This article details the module's development, evaluation, and…

  20. Using Anchored Instruction to Evaluate Mathematical Growth and Understanding

    Science.gov (United States)

    Kurz, Terri L.; Batarelo, Ivana

    2005-01-01

    Anchored instruction is designed to present problems in a meaningful context to allow for investigations into real life environments. The Jasper Project was created to allow students to investigate mathematical dilemmas using anchored instruction techniques. This study uses case study methods to examine the perceptions that preservice teachers…

  1. Electrically insulated MLI and thermal anchor

    Science.gov (United States)

    Kamiya, Koji; Furukawa, Masato; Hatakenaka, Ryuta; Miyakita, Takeshi; Murakami, Haruyuki; Kizu, Kaname; Tsuchiya, Katsuhiko; Koidea, Yoshihiko; Yoshida, Kiyoshi

    2014-01-01

    The thermal shield of JT-60SA is kept at 80 K and will use the multilayer insulation (MLI) to reduce radiation heat load to the superconducting coils at 4.4 K from the cryostat at 300 K. Due to plasma pulse operation, the MLI is affected by eddy current in toroidal direction. The MLI is designed to suppress the current by electrically insulating every 20 degree in the toroidal direction by covering the MLI with polyimide films. In this paper, two kinds of designs for the MLI system are proposed, focusing on a way to overlap the layers. A boil-off calorimeter method and temperature measurement has been performed to determine the thermal performance of the MLI system. The design of the electrical insulated thermal anchor between the toroidal field (TF) coil and the thermal shield is also explained.

  2. Breaking anchored droplets in a microfluidic Hele-Shaw cell

    CERN Document Server

    Amselem, Gabriel; Gallaire, François; Baroud, Charles N

    2015-01-01

    We study microfluidic self digitization in Hele-Shaw cells using pancake droplets anchored to surface tension traps. We show that above a critical flow rate, large anchored droplets break up to form two daughter droplets, one of which remains in the anchor. Below the critical flow velocity for breakup the shape of the anchored drop is given by an elastica equation that depends on the capillary number of the outer fluid. As the velocity crosses the critical value, the equation stops admitting a solution that satisfies the boundary conditions; the drop breaks up in spite of the neck still having finite width. A similar breaking event also takes place between the holes of an array of anchors, which we use to produce a 2D array of stationary drops in situ.

  3. Application of genotyping-by-sequencing on semiconductor sequencing platforms: A comparison of genetic and reference-based marker ordering in barley

    Science.gov (United States)

    The rapid development of next generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS), a low-cost, reduced representation sequencing method, is becoming a common approach fo...

  4. An international reference consensus genetic map with 897 marker loci based on 11 mapping populations for tetraploid groundnut (Arachis hypogaea L.)

    Science.gov (United States)

    Only a few genetic maps based on recombinant inbred line (RIL) and backcross (BC) populations have been developed for tetraploid groundnut. The marker density, however, is not very satisfactory especially in the context of large genome size (2800 Mb/1C) and 20 linkage groups (LGs). Therefore, using ...

  5. Effects of accuracy motivation and anchoring on metacomprehension judgment and accuracy.

    Science.gov (United States)

    Zhao, Qin

    2012-01-01

    The current research investigates how accuracy motivation impacts anchoring and adjustment in metacomprehension judgment and how accuracy motivation and anchoring affect metacomprehension accuracy. Participants were randomly assigned to one of six conditions produced by the between-subjects factorial design involving accuracy motivation (incentive or no) and peer performance anchor (95%, 55%, or no). Two studies showed that accuracy motivation did not impact anchoring bias, but the adjustment-from-anchor process occurred. Accuracy incentive increased anchor-judgment gap for the 95% anchor but not for the 55% anchor, which induced less certainty about the direction of adjustment. The findings offer support to the integrative theory of anchoring. Additionally, the two studies revealed a "power struggle" between accuracy motivation and anchoring in influencing metacomprehension accuracy. Accuracy motivation could improve metacomprehension accuracy in spite of anchoring effect, but if anchoring effect is too strong, it could overpower the motivation effect. The implications of the findings were discussed.

  6. Grapnel stone anchors from Saurashtra: Remnants of Indo-Arab trade on the Indian coast

    Digital Repository Service at National Institute of Oceanography (India)

    Gaur, A.S.; Sundaresh; Tripati, S.

    Stone anchors have been used as a primary source of information on ancient navigation by marine archaeologists since long. These anchors used by ancient mariners are often noticed underwater at various places across the world. Stone anchors are also...

  7. Gold nanoparticles assembled with dithiocarbamate-anchored molecular wires

    Science.gov (United States)

    Reeler, Nini E. A.; Lerstrup, Knud A.; Somerville, Walter; Speder, Jozsef; Petersen, Søren V.; Laursen, Bo W.; Arenz, Matthias; Qiu, Xiaohui; Vosch, Tom; Nørgaard, Kasper

    2015-10-01

    A protocol for the bottom-up self-assembly of nanogaps is developed through molecular linking of gold nanoparticles (AuNPs). Two π-conjugated oligo(phenylene ethynylene) molecules (OPE) with dithiocarbamate anchoring groups are used as ligands for the AuNPs. OPE-4S with a dithiocarbamate in each end of the molecule and a reference molecule OPE-2S with only a single dithiocarbamate end group. The linking mechanism of OPE-4S is investigated by using a combination of TEM, UV-Vis absorption and surface enhanced Raman spectroscopy (SERS) as well as studying the effect of varying the OPE-4S to AuNP concentration ratio. UV-Vis absorption confirms the formation of AuNP aggregates by the appearance of an extended plasmon band (EPB) for which the red shift and intensity depend on the OPE-4S:AuNP ratio. SERS confirms the presence of OPE-4S and shows a gradual increase of the signal intensity with increasing OPE-4S:AuNP ratios up to a ratio of about 4000, after which the SERS intensity does not increase significantly. For OPE-2S, no linking is observed below full coverage of the AuNPs indicating that the observed aggregate formation at high OPE-2S:AuNP ratios, above full AuNP coverage, is most likely of a physical nature (van der Waals forces or π-π interactions).

  8. Construction of a Pichia pastoris cell-surface display system using Flo1p anchor system.

    Science.gov (United States)

    Tanino, Takanori; Fukuda, Hideki; Kondo, Akihiko

    2006-01-01

    A Pichia pastoris cell-surface display system was constructed using a Flo1p anchor system, which was developed in Saccharomyces cerevisiae. The lipase from Rhizopus oryzae with a pro sequence (ProROL) was used as the model protein and was genetically fused to the anchor consisting of amino acids 1-1099 of Flo1p (FS anchor). The resulting fusion protein FSProROL was expressed under the control of the alcohol oxidase 1 promoter (pAOX1). The fluorescence microscopy of immunolabeled P. pastoris cells revealed that ProROL was displayed on the cell surface, and Western blot analysis revealed that the fusion protein FSProROL was noncovalently attached to the cell wall and highly glycosylated. The lipase activity of P. pastoris cells was affected by the methanol concentration for the induction phase. Surprisingly, the activity of lipase displayed on the cells incubated at 60 degrees C was not only stable but also increased to about 6.5 times the initial value after 4 h incubation.

  9. Construction of an intra-specific sweet cherry (Prunus avium L.) genetic linkage map and synteny analysis with the Prunus reference map

    Science.gov (United States)

    Linkage maps of the sweet cherry cultivar ‘Emperor Francis’ (EF) and the wild forest cherry ‘New York 54’ (NY) were constructed using primarily simple sequence repeat (SSR) markers and gene-derived markers with known positions on the Prunus reference map. The success rate for identifying SSR markers...

  10. Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

    NARCIS (Netherlands)

    Abdelmalik, Nadia; van Haelst, Mieke; Mancini, Grazia; Schrander-Stumpel, Connie; Marcus-Soekarman, Dominique; Hennekam, Raoul; Cobben, Jan Maarten

    2013-01-01

    The characteristics of fetal acohol spectrum disorders (FASD) constitute a specific facial phenotype, growth failure and neurodevelopmental defects. Reported FASD prevalences vary widely from 0.08 per 1,000 up to 68.089.2 per 1,000. We aimed to evaluate to which extent children referred with a suspi

  11. Constructive and problem-based learning using blended learning anchored instruction approaches

    Science.gov (United States)

    Mayer, M.

    2012-04-01

    Based on an anchored instruction approach, an enriched blended learning lecture course ("Introduction into GNSS positioning") was established in order to enable constructive and problem-based learning. The lecture course "Introduction into GNSS positioning" is a compulsory part of the Bachelor study course "Geodesy and Geoinformatics" and also a supplementary module of the Bachelor study course "Geophysics". Within the lecture course, basic knowledge and basic principles of Global Navigation Satellite Systems, like GPS, are imparted. The presented higher education technique "anchored instruction" uses a real and up-to-date and therefore authentic scientific paper dealing with a recent large-scale geodetic project (Fehmarn Belt Fixed Link) in order to introduce the topic of GNSS-based positioning to the students. In the beginning of the semester, the students have to read the paper individually and carefully. This enables them to realize a lot of not-known GNSS-related facts. Therefore, questions can be formulated focusing on new, unclear or not-understood aspects of the paper. The lecture course deals with these questions, in order to answer them throughout the semester. During the lecture course this paper is referred, e.g., in the middle of the semester, the paper has to be read again in order to check which questions have been answered; in addition, new question arise. At the end of the lecture course, the author of the scientific paper gave a concluding lecture. The framing anchor technique enables the students to anchor their GNSS knowledge. The presented case study uses a teaching resp. learning setting consisting of classroom lectures (given by teachers and learners), practical trainings (e.g., field exercises, students select topics individually), and online lectures (learning management system ILIAS is used as data, result, and asynchronous communication platform). The implementation and the elements of the anchoring technique, which enables student

  12. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

    Science.gov (United States)

    Lam, Christina; Golas, Gretchen A; Davids, Mariska; Huizing, Marjan; Kane, Megan S; Krasnewich, Donna M; Malicdan, May Christine V; Adams, David R; Markello, Thomas C; Zein, Wadih M; Gropman, Andrea L; Lodish, Maya B; Stratakis, Constantine A; Maric, Irina; Rosenzweig, Sergio D; Baker, Eva H; Ferreira, Carlos R; Danylchuk, Noelle R; Kahler, Stephen; Garnica, Adolfo D; Bradley Schaefer, G; Boerkoel, Cornelius F; Gahl, William A; Wolfe, Lynne A

    2015-01-01

    PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM, #615398)]. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, a subunit of the heteropentameric transamidase complex that facilitates the transfer of GPI to proteins. GPI facilitates attachment (anchoring) of proteins to cell membranes. We describe, at ages 7 and 6 years, two children of non-consanguineous parents; they had hypotonia, severe global developmental delay, and intractable seizures along with endocrine, ophthalmologic, skeletal, hearing, and cardiac anomalies. Exome sequencing revealed that both siblings had compound heterozygous variants in PIGT (NM_015937.5), i.e., c.918dupC, a novel duplication leading to a frameshift, and c.1342C > T encoding a previously described missense variant. Flow cytometry studies showed decreased surface expression of GPI-anchored proteins on granulocytes, consistent with findings in previous cases. These siblings further delineate the clinical spectrum of PIGT-CDG, reemphasize the neuro-ophthalmologic presentation, clarify the endocrine features, and add hypermobility, low CSF albumin quotient, and hearing loss to the phenotypic spectrum. Our results emphasize that GPI anchor-related congenital disorders of glycosylation (CDGs) should be considered in subjects with early onset severe seizure disorders and dysmorphic facial features, even in the presence of a normal carbohydrate-deficient transferrin pattern and N-glycan profiling. Currently available screening for CDGs will not reliably detect this family of disorders, and our case reaffirms that the use of flow cytometry and genetic testing is essential for diagnosis in this group of disorders.

  13. Distributed localization for anchor-free sensor networks

    Institute of Scientific and Technical Information of China (English)

    Cui Xunxue; Shan Zhiguan; Liu Jianjun

    2008-01-01

    Geographic location of nodes is very useful in a sensor network. Previous localization algorithms assume that there exist some anchor nodes in this kind of network, and then other nodes are estimated to create their coordinates. Once there are not anchors to be deployed, those localization algorithms will be invalidated. Many papers in this field focus on anchor-based solutions. The use of anchors introduces many limitations, since anchors require external equipments such as global position system, cause additional power consumption. A novel positioning algorithm is proposed to use a virtual coordinate system based on a new concept-virtual anchor. It is executed in a distributed fashion according to the connectivity of a node and the measured distances to its neighbors. Both the adjacent member information and the ranging distance result are combined to generate the estimated position of a network, one of which is independently adopted for localization previously. At the position refinement stage the intermediate estimation of a node begins to be evaluated on its reliability for position mutation; thus the positioning optimization process of the whole network is avoided falling into a local optimal solution. Simulation results prove that the algorithm can resolve the distributed localization problem for anchor-free sensor networks, and is superior to previous methods in terms of its positioning capability under a variety of circumstances.

  14. Reference Revolutions.

    Science.gov (United States)

    Mason, Marilyn Gell

    1998-01-01

    Describes developments in Online Computer Library Center (OCLC) electronic reference services. Presents a background on networked cataloging and the initial implementation of reference services by OCLC. Discusses the introduction of OCLC FirstSearch service, which today offers access to over 65 databases, future developments in integrated…

  15. Neurostimulation leads, intrathecal catheters and anchoring devices evolution

    Directory of Open Access Journals (Sweden)

    Laura Demartini

    2015-03-01

    Full Text Available Many scientific studies highlight the usefulness of spinal cord stimulation and intrathecal therapy for the management of chronic pain syndromes resistant to pharmacological or less invasive interventional therapies. One of the possible complications of these techniques, reported in literature, is migration of the lead or catheter; thus the use of an anchoring system is considered mandatory. Every company that produces devices for neurostimulation or neuromodulation provides various anchoring devices evolved over time. In the study, the authors discuss about the most common anchoring devices based on their clinical experience.

  16. Anchoring of development workings in a zone of influence of mining in case of the level anchoring system

    Science.gov (United States)

    Demin, V. F.; Fofanov, O. B.; Demina, T. V.; Yavorskiy, V. V.

    2017-02-01

    Regularities of the change of the stress-strain state of coal containing rock masses, depending on mining-geological factors, were revealed. These factors allow establishing rational parameters of anchoring of wall rocks to enhance the stability of development workings. Specific conditions of the deflected mode, displays of rock pressure, terms of maintenance depending on technological parameters are investigated. Researches allowed determining the degree of their development influence on the efficiency of application of the anchoring of the hollow making and will allow a reasonable application of anchoring certificates, provide stability of the rocks mining and reduce expenses on its realization and maintenance.

  17. 船舶锚机制动器故障及处理%Failure and Dispose of Ship Anchor Machine Brake

    Institute of Scientific and Technical Information of China (English)

    胡光明

    2013-01-01

    Anchor machine is one of the most important ship navigation equipments, which directly affects the safety of navigation. After the anchor machine brake failure, it cannot drop anchor or cannot haul back anchor after dropping anchor, which brings potential risks to navigation. Starting from the common electric windlass, electrical control system of the anchor machine, and failure reasons and processing method of the brake are simply stated. It can provide reference for the emergency treatment in ship navigating, repair and maintenance of the ship.%锚机是船舶最重要的航行设备之一,它的好坏直接影响到船舶航行的安全性。锚机制动器失效后,不能正常抛锚或抛锚后不能起锚,给船舶航行带来了安全隐患。从常见电动锚机入手,浅述了锚机的电气控制系统、制动器出现故障的原因、处理方法。这能为航行中船舶应急处理、船舶检修、保养提供参考。

  18. Effect of a preload force on anchor system frequency

    Institute of Scientific and Technical Information of China (English)

    Lu Aihong; Xu Jinhai; Liu Haishun

    2013-01-01

    The interrelationship between preload forces and natural frequencies of anchors was obtained from the structure of an anchor and its mechanical characteristics.We established a numerical model for the dynamic analysis of a bolt support system taking into consideration the working surroundings of the anchor.The natural frequency distribution of the system under various preload forces of the anchor was analyzed with ANSYS.Our results show that each order of the system frequency varied with an increase in preload forces.A single order frequency decreased with an increase in the preload force.A preload force affected low-order frequencies more than high-order frequencies.We obtained a functional relationship by fitting preload forces and fundamental frequencies,which was in agreement with our theoretical considerations.This study provides theoretical support for the detection of preload forces.

  19. Reaching the top: career anchors and professional development in nursing.

    Science.gov (United States)

    Kaplan, Ruth; Shmulevitz, Carmela; Raviv, Dennie

    2009-01-01

    This study, based on Shein's conceptual theory of career anchors, examined the relationship between career anchors, professional development and emerging career patterns for graduates of 12 consecutive two year second career programs in nursing (N=231) compared to graduates of concurrent four year academic programs (N=273). A 2-group comparison design was used and data collection tools included a demographic profile, a professional profile and a career anchor questionnaire. Statistically significant differences were found in regard to career anchors (pdevelopment (pnurses were specialization and lifestyle where academic graduates chose management, autonomy and service. Academics displayed a statistically significant preference for administrative specialization (34%) compared to the second career tract (6.5%). Researchers propose that each group develops differently and contributes to the workplace and the importance of both certification and academic incentives to ensure recruitment.

  20. Anchor-induced chondral damage in the hip

    OpenAIRE

    Matsuda, Dean K.; Bharam, Srino; White, Brian J.; Matsuda, Nicole A.; SAFRAN, Marc

    2015-01-01

    The purpose of this study is to investigate the outcomes from anchor-induced chondral damage of the hip, both with and without frank chondral penetration. A multicenter retrospective case series was performed of patients with chondral deformation or penetration during initial hip arthroscopic surgery. Intra-operative findings, post-surgical clinical courses, hip outcome scores and descriptions of arthroscopic treatment in cases requiring revision surgery and anchor removal are reported. Five ...