WorldWideScience

Sample records for anchored reference genetic

  1. Sequenced BAC anchored reference genetic map that reconciles the ten individual chromosomes of Brassica rapa

    OpenAIRE

    Park Beom-Seok; Jin Mina; Van Nguyen Dan; Hossain Md; Lee Seo; Hong Chang; Bae Jina; Choi Su; Kim HyeRan; Bang Jea-Wook; Bancroft Ian; Lim Yong

    2009-01-01

    Abstract Background In view of the immense value of Brassica rapa in the fields of agriculture and molecular biology, the multinational Brassica rapa Genome Sequencing Project (BrGSP) was launched in 2003 by five countries. The developing BrGSP has valuable resources for the community, including a reference genetic map and seed BAC sequences. Although the initial B. rapa linkage map served as a reference for the BrGSP, there was ambiguity in reconciling the linkage groups with the ten chromos...

  2. 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. ...

  3. Genetics Home Reference: cystinuria

    Science.gov (United States)

    ... for This Page Claes DJ, Jackson E. Cystinuria: mechanisms and management. Pediatr Nephrol. 2012 Nov;27(11): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  4. Genetics Home Reference: Genetic Conditions

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Health Conditions Explore the signs ...

  5. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... links) Disease InfoSearch: Phenylketonuria Genetic Science Learning Center, University of Utah Genetics Education Materials for School Success (GEMSS) MalaCards: phenylketonuria March of Dimes Montreal Children's Hospital My46 Trait Profile New England Consortium of Metabolic ...

  6. Genetics Home Reference: adermatoglyphia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adermatoglyphia adermatoglyphia Enable Javascript to ...

  7. Genetics Home Reference: trimethylaminuria

    Science.gov (United States)

    ... Primary Trimethylaminuria Genetic Testing Registry: Trimethylaminuria Monell Chemical Senses Center: TMAU & Body Malodors National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria ...

  8. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  9. 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. Print All Open All Close All Description Preeclampsia is a complication of pregnancy in which affected ...

  10. Genetics Home Reference: achromatopsia

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of achromatopsia: GeneReview: Achromatopsia Genetic Testing Registry: Achromatopsia MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information about ...

  11. Genetics Home Reference: choroideremia

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of choroideremia: GeneReview: Choroideremia Genetic Testing Registry: Choroideremia MedlinePlus Encyclopedia: Vision - night blindness MedlinePlus Encyclopedia: Visual field These resources ...

  12. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions retinoblastoma retinoblastoma Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Retinoblastoma is a rare type of eye cancer that ...

  13. 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 ...

  14. Genetics Home Reference: galactosialidosis

    Science.gov (United States)

    ... Diseases ISMRD: The International Advocate for Glycoprotein Storage Diseases ... Maaswinkel-Mooy P, Smit V, van der Hoeven M, Bakker J, Campos Y, d'Azzo A. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet Metab. ...

  15. Genetics Home Reference: sialidosis

    Science.gov (United States)

    ... syndrome Related Information How are genetic conditions and genes named? ... Morrone A. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J ...

  16. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... Exp Dermatol. 2009 Jul;18(7):583-5. doi: 10.1111/j.1600-0625.2008.00826.x. ... Med Surg. 2009 Jun;28(2):86-92. doi: 10.1016/j.sder.2009.04.008. Review. ... Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272. Citation on PubMed or ...

  17. Genetics Home Reference: globozoospermia

    Science.gov (United States)

    ... of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Citation on PubMed or Free article on PubMed Central Koscinski I, Elinati E, Fossard ...

  18. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  19. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med. 2009 Feb; ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  20. Genetics Home Reference: Huntington disease

    Science.gov (United States)

    ... Citation on PubMed Jones L, Hughes A. Pathogenic mechanisms in Huntington's disease. Int Rev Neurobiol. 2011;98: ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  1. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  2. Genetics Home Reference: familial atrial fibrillation

    Science.gov (United States)

    ... or Free article on PubMed Central Roberts R. Mechanisms of disease: Genetic mechanisms of atrial fibrillation. Nat Clin Pract Cardiovasc Med. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  3. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  4. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions ocular albinism ocular albinism Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Ocular albinism is a genetic condition that primarily affects ...

  5. Genetics Home Reference: Northern epilepsy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Northern epilepsy Northern epilepsy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Northern epilepsy is a genetic condition that causes recurrent seizures ( ...

  6. Genetics Home Reference: Sandhoff disease

    Science.gov (United States)

    ... links) Health Topic: Degenerative Nerve Diseases Health Topic: Tay-Sachs Disease Genetic and Rare Diseases Information Center (1 ... UK) National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association Genetic Testing Registry (1 ...

  7. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10. ... molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10. ...

  8. Genetics Home Reference: Crouzonodermoskeletal syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Enable ...

  9. Genetics Home Reference: cryptogenic cirrhosis

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cryptogenic cirrhosis cryptogenic cirrhosis Enable ...

  10. Genetics Home Reference: Cushing disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Cushing disease Cushing disease Enable ...

  11. Genetics Home Reference: Partington syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Partington syndrome Partington syndrome Enable ...

  12. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dystonia 6 dystonia 6 Enable ...

  13. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Friedreich ataxia Friedreich ataxia Enable ...

  14. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions MEGDEL syndrome MEGDEL syndrome Enable ...

  15. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Leigh syndrome Leigh syndrome Enable ...

  16. Genetics Home Reference: androgenetic alopecia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions androgenetic alopecia androgenetic alopecia Enable ...

  17. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  18. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Canavan disease Canavan disease Enable ...

  19. Genetics Home Reference: adiposis dolorosa

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adiposis dolorosa adiposis dolorosa Enable ...

  20. Genetics Home Reference: Kabuki syndrome

    Science.gov (United States)

    ... Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar ... Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr ... Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub ...

  1. Genetics Home Reference: nemaline myopathy

    Science.gov (United States)

    ... NORD) University of Kansas Medical Center Resource List: Muscular Dystrophy/Atrophy GeneReviews (1 link) Nemaline Myopathy Genetic Testing Registry (11 links) Nemaline myopathy Nemaline myopathy ...

  2. Genetics Home Reference: Salih myopathy

    Science.gov (United States)

    ... myopathy with fatal cardiomyopathy Salih CMD Salih congenital muscular dystrophy Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus ( ...

  3. 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, a ...

  4. Genetics Home Reference: xeroderma pigmentosum

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions xeroderma pigmentosum xeroderma pigmentosum Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Xeroderma pigmentosum , which is commonly known as XP, is an ...

  5. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  6. Genetics Home Reference: cyclic neutropenia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions cyclic neutropenia cyclic neutropenia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cyclic neutropenia is a disorder that causes frequent infections and ...

  7. 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 ...

  8. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  9. Genetics Home Reference: polycythemia vera

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions polycythemia vera polycythemia vera Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Polycythemia vera is a condition characterized by an increased number ...

  10. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, ... gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to ...

  11. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  12. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  13. 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. Print All Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  14. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions atopic dermatitis atopic dermatitis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Atopic dermatitis (also known as atopic eczema) is a disorder ...

  15. Genetics Home Reference: multiminicore disease

    Science.gov (United States)

    ... links) Malignant Hyperthermia Association of the United States Muscular Dystrophy UK: Congenital Myopathies Resource list from the University of Kansas Medical Center GeneReviews (1 link) Multiminicore Disease Genetic Testing Registry (3 links) Minicore myopathy with external ...

  16. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions rheumatoid arthritis rheumatoid arthritis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, ...

  17. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions psoriatic arthritis psoriatic arthritis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Psoriatic arthritis is a condition involving joint inflammation (arthritis) that ...

  18. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry. Related Information What information about a genetic ... an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in ...

  19. 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. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  20. 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. Print All Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  1. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  2. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ). The life expectancy of people with this condition ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  3. Genetics Home Reference: Caffey disease

    Science.gov (United States)

    ... bones can lead to curvature of the spine ( scoliosis ) or limit expansion of the chest, resulting in ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  4. Genetics Home Reference: cleidocranial dysplasia

    Science.gov (United States)

    ... knees; and an abnormal curvature of the spine ( scoliosis ). Characteristic facial features may include a wide, short ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  5. Genetics Home Reference: campomelic dysplasia

    Science.gov (United States)

    ... may develop an abnormal curvature of the spine ( scoliosis ) and other spine abnormalities that compress the spinal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  6. Genetics Home Reference: Hennekam syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ), and inward- and upward-turning feet ( clubfeet ). The ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  7. Genetics Home Reference: Aicardi syndrome

    Science.gov (United States)

    ... leading to progressive abnormal curvature of the spine ( scoliosis ). They often have gastrointestinal problems such as constipation ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  8. Genetics Home Reference: cap myopathy

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). The name cap myopathy comes from characteristic abnormal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  9. Genetics Home Reference: centronuclear myopathy

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ). Rarely, individuals with centronuclear myopathy have a weakened ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  10. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... individuals also develop abnormal curvature of the spine ( scoliosis ), which may require surgery. Andermann syndrome also results ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  11. Genetics Home Reference: familial dysautonomia

    Science.gov (United States)

    ... pain, poor balance, abnormal curvature of the spine ( scoliosis ), poor bone quality and increased risk of bone ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  12. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cooley's Anemia Foundation: Fact sheet about alpha thalassemia Disease InfoSearch: Alpha-Thalassemia Genomics Education Programme (UK) Information Center for Sickle Cell and ...

  13. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cold Spring Harbor Laboratory: Your Genes Your Health Disease InfoSearch: Beta Thalassemia Genomics Education Programme (UK) MalaCards: dominant beta-thalassemia Merck Manual ...

  14. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... NS Related Information How are genetic conditions and genes named? ... Weibel L, Deraison C, Hovnanian A. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder ...

  15. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  16. Genetics Home Reference: multiple myeloma

    Science.gov (United States)

    ... This Condition Kahler-Bozzolo disease Kahler disease Kahler's disease medullary plasmacytoma myelomatosis plasma cell dyscrasia plasma cell myelomas Related Information How are genetic conditions and genes named? Additional Information & ... and Rare Diseases Information Center (1 link) Multiple myeloma Additional NIH ...

  17. Genetics Home Reference: clopidogrel resistance

    Science.gov (United States)

    ... genetic polymorphisms in CYP2C9 and CYP2C19 on the pharmacokinetics of clinically used drugs. Drug Metab Pharmacokinet. 2013; ... races treated with clopidogrel: A systematic review and meta-analysis. J Huazhong Univ Sci Technolog Med Sci. 2015 ...

  18. Genetics Home Reference: retinitis pigmentosa

    Science.gov (United States)

    ... by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome ; Refsum disease ; and neuropathy, ... for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The ...

  19. Genetics Home Reference: Majeed syndrome

    Science.gov (United States)

    ... the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps ... NORD): Osteomyelitis National Organization for Rare Disorders (NORD): Sweet Syndrome GeneReviews (1 link) Majeed Syndrome Genetic Testing Registry ( ...

  20. Genetics Home Reference: giant axonal neuropathy

    Science.gov (United States)

    ... in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve. 2012 Aug;46(2):246-56. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  1. Genetics Home Reference: Coats plus syndrome

    Science.gov (United States)

    ... Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  2. Genetics Home Reference: acute promyelocytic leukemia

    Science.gov (United States)

    ... Z. Acute promyelocytic leukaemia: novel insights into the mechanisms of cure. Nat Rev Cancer. 2010 Nov;10( ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  3. Genetics Home Reference: familial cold autoinflammatory syndrome

    Science.gov (United States)

    ... protein to inhibit inflammation. Impairment of the body's mechanisms for controlling inflammation results in the episodes of ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  4. Genetics Home Reference: fibrodysplasia ossificans progressiva

    Science.gov (United States)

    ... of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  5. Genetics Home Reference: cerebral folate transport deficiency

    Science.gov (United States)

    ... do not begin until late infancy because other mechanisms can compensate for this loss. For example, another ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  6. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... Awad IA. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance. Neurosurgery. 2004 Jul;55(1): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  7. Genetics Home Reference: isolated Duane retraction syndrome

    Science.gov (United States)

    ... as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan;48(1): ... of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. ... Reference Site Map Contact Us Selection Criteria ...

  8. [Dactylogyrids (Monogenea: Dactylogyridea) with an unusual number of anchors, their origin and phylogenetic significance. Reference data].

    Science.gov (United States)

    Gerasev, P I

    2002-01-01

    It is considered that in Anacanthorinae, Markewitschiana and Pseudacolpenteron pavlovskii (Dactylogyridae s. s.) the anchors are absent originally. In the other dactylogyrids (s. l.) without anchors (Pseudacolpenteron ignotus; Acolpenteron; Anonchohaptor-Icelanchohaptor; Kritskyia-Telethecium-Pavanelliela) these structures are lost. In related genera Rhinoxenus and Nanotrema the dorsal pair of anchors is transformed into the "spikes"; in Heteronchocleidinae there is one anchor; in Trinigyrus and Schilbetrematoides are two anchors; and in Urogyrus three anchors are reduced. But in Rhinonaster, Cacatyocotyle, Callceostomella, Neocalseostoma elongatum and Pseudodactylogyridae the presence of one pair of ventral "peduncular" or "haptoral" anchors appear to be the original state. For Anacanthorinae and Dactylogyridae s. s. the presence of 18-16 hooks, original lacking of anchors, appearance of one pair of them, evolutionary development and subsequent reduction of these structures are characteristic. In the dactylogyrids (s. l.) having two pairs of anchors and 14 hooks, one pair of the anchors is present originally, then usually the second dorsal pair grows up, and finally, the reduction of a part of anchors or all the anchors is possible. In the 16-hooked dactylogyrids (s. l.) having two pairs of anchors (Tetraonchinea, Amphibdellainea, Neodactylodiscinea) the original lacking or reduction of the anchors is not reported. The author considers, that it is unwarranted to unite all dactylogyrids (s. l.) without anchors into the superorder Ananchorea Malmberg, 1990 or to postulate the original presence of the two pairs of ventral anchors in this group. It is also impossible to unit all dactylogyrids (s. l.) having 0-4 anchors and 18-14 hooks into Dactylogyridae sensu Boeger et Kritsky, 1993. PMID:12070963

  9. A genetically anchored physical map of the cacao genome

    Science.gov (United States)

    Mars Incorporated and the United States Department of Agriculture have undertaken the sequencing of the genome of Theobroma cacao, which produces cocoa beans, the key ingredient in chocolate. Genetic information, such as whole genome sequence is necessary to better understand and improve cacao. In m...

  10. Genetics Home Reference: GLUT1 deficiency syndrome

    Science.gov (United States)

    ... genetic conditions treated or managed? What is genetic testing? How can I find a genetics professional in my area? Other Names for This Condition De Vivo disease encephalopathy due to GLUT1 deficiency G1D glucose ...

  11. Genetics Home Reference: Shprintzen-Goldberg syndrome

    Science.gov (United States)

    ... those of people with a genetic condition called Marfan syndrome . For example, they may have long, slender ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz ...

  12. Genetics Home Reference: recurrent hydatidiform mole

    Science.gov (United States)

    ... the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing ... embryo receives too much genetic information because two sperm cells fertilized one egg. Learn more about the ...

  13. Genetics Home Reference: hereditary cerebral amyloid angiopathy

    Science.gov (United States)

    ... prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 ...

  14. Genetics Home Reference: myoclonus-dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions myoclonus-dystonia myoclonus-dystonia Enable ...

  15. Genetics Home Reference: progressive familial heart block

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions progressive familial heart block progressive ...

  16. Genetics Home Reference: sepiapterin reductase deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions sepiapterin reductase deficiency sepiapterin reductase ...

  17. Genetics Home Reference: dopamine transporter deficiency syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dopamine transporter deficiency syndrome dopamine ...

  18. Genetics Home Reference: tyrosine hydroxylase deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions TH deficiency tyrosine hydroxylase deficiency ...

  19. Genetics Home Reference: GM1 gangliosidosis

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions GM1 gangliosidosis GM1 gangliosidosis Enable ...

  20. Genetics Home Reference: dopa-responsive dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dopa-responsive dystonia dopa-responsive ...

  1. Genetics Home Reference: fragile X syndrome

    Science.gov (United States)

    ... College of Medical Genetics Practice Guideline Boston Children's Hospital Centre for Genetics Education (Australia) Disease InfoSearch: Fragile X Syndrome Emory University School of Medicine: Fragile X Premutation--a Cause ...

  2. Genetics Home Reference: Buschke-Ollendorff syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Buschke-Ollendorff syndrome Buschke-Ollendorff ...

  3. Genetics Home Reference: C3 glomerulopathy

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions C3 glomerulopathy C3 glomerulopathy Enable ...

  4. Genetics Home Reference: Adams-Oliver syndrome

    Science.gov (United States)

    ... Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul ... Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. Citation ... Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub ...

  5. Genetics Home Reference: pulmonary alveolar microlithiasis

    Science.gov (United States)

    ... Genetics Home Health Conditions pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description ...

  6. Genetics Home Reference: adenosine monophosphate deaminase deficiency

    Science.gov (United States)

    ... links) CLIMB: Children Living with Inherited Metabolic Diseases Muscular Dystrophy Association: Myoadenylate Deaminase Deficiency Genetic Testing Registry (1 link) Muscle AMP deaminase deficiency ...

  7. 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 ...

  8. Genetics Home Reference: distal myopathy 2

    Science.gov (United States)

    ... Muscular Dystrophy Health Topic: Muscle Disorders Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Distal ... MPD2) Patient Support and Advocacy Resources (2 links) Muscular Dystrophy ... Genetic Testing Registry (1 link) Myopathy, distal, 2 ClinicalTrials. ...

  9. Genetics Home Reference: Walker-Warburg syndrome

    Science.gov (United States)

    ... Brain Malformations Health Topic: Eye Diseases Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Walker- ... Intellectual and Developmental Disabilities GeneReviews (1 link) Congenital Muscular Dystrophy ... Genetic Testing Registry (1 link) Walker-Warburg syndrome ClinicalTrials. ...

  10. Genetics Home Reference: Laing distal myopathy

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (1 link) Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Laing ... list from the University of Kansas Medical Center: Muscular Dystrophy/Atrophy GeneReviews (1 ... Genetic Testing Registry (1 link) Myopathy, distal, 1 ClinicalTrials. ...

  11. Genetics Home Reference: pseudohypoaldosteronism type 2

    Science.gov (United States)

    ... high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can ...

  12. Genetics Home Reference: mucopolysaccharidosis type VI

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type VI mucopolysaccharidosis type VI Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux- ...

  13. Genetics Home Reference: mucopolysaccharidosis type II

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type II mucopolysaccharidosis type II Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type II (MPS II), also known as Hunter ...

  14. Genetics Home Reference: mucopolysaccharidosis type IV

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type IV mucopolysaccharidosis type IV Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type IV (MPS IV), also known as Morquio ...

  15. Genetics Home Reference: mucopolysaccharidosis type III

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type III mucopolysaccharidosis type III Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo ...

  16. Genetics Home Reference: adolescent idiopathic scoliosis

    Science.gov (United States)

    ... of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having ... 3 percent of children in the U.S. Related Information What information about a genetic condition can statistics ...

  17. Genetics Home Reference: Saethre-Chotzen syndrome

    Science.gov (United States)

    ... Condition acrocephalosyndactyly III Acrocephalosyndactyly, type III Acrocephaly, Skull Asymmetry, and Mild Syndactyly ACS III ACS3 Chotzen syndrome dysostosis craniofacialis with hypertelorism SCS Related Information How are genetic conditions and genes named? Additional ...

  18. 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. Print All Open All Close All Description Lymphedema-distichiasis syndrome is a condition that affects the ...

  19. Genetics Home Reference: Sézary syndrome

    Science.gov (United States)

    ... Co-Pay Assistance Program Lymphoma Research Foundation National Organization for Rare Disorders (NORD): Cutaneous T-Cell Lymphomas Genetic Testing Registry (1 link) Sezary syndrome Scientific articles on PubMed (1 link) PubMed Sources for This ...

  20. Genetics Home Reference: Langerhans cell histiocytosis

    Science.gov (United States)

    ... Association Histio UK Histiocytosis Association of America National Organization for Rare Disorders Genetic Testing Registry (1 link) Langerhans cell histiocytosis, multifocal Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  1. Genetics Home Reference: primary spontaneous pneumothorax

    Science.gov (United States)

    ... increase the risk of primary spontaneous pneumothorax . One theory is that the altered folliculin protein may trigger ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management These resources address the diagnosis or management of ...

  2. 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 ...

  3. Genetics Home Reference: factor V deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions factor V deficiency factor V deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Factor V deficiency is a rare bleeding disorder. The signs ...

  4. Genetics Home Reference: progressive supranuclear palsy

    Science.gov (United States)

    ... appear to be related to abnormalities in the tau protein. In people with MAPT gene mutations, genetic changes ... affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other ...

  5. Genetics Home Reference: autosomal dominant vitreoretinochoroidopathy

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources ...

  6. Genetics Home Reference: leptin receptor deficiency

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions leptin receptor deficiency leptin receptor deficiency Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Leptin receptor deficiency is a condition that causes severe ...

  7. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  8. Genetics Home Reference: microvillus inclusion disease

    Science.gov (United States)

    ... Genetics Home Health Conditions microvillus inclusion disease microvillus inclusion disease Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Microvillus inclusion disease is a condition characterized by chronic, watery, ...

  9. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... 3 links) Encyclopedia: Chromosome Encyclopedia: Epilepsy Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 20 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  10. Genetics Home Reference: ring chromosome 14 syndrome

    Science.gov (United States)

    ... Encyclopedia: Chromosome Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 14 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  11. 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/collapse boxes. Print All Open All Close All Description Tay-Sachs disease is a rare inherited disorder that progressively ...

  12. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Genetics Home Health Conditions hereditary fructose intolerance hereditary fructose intolerance Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Hereditary fructose intolerance is a condition that affects a person's ...

  13. Genetics Home Reference: mitochondrial complex III deficiency

    Science.gov (United States)

    ... chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules ... Additional Information & Resources MedlinePlus (4 links) Encyclopedia: Lactic Acidosis Encyclopedia: Metabolic Acidosis Health Topic: Genetic Brain Disorders ...

  14. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol. 2006 Mar;45(3):239-44. Citation on ... JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review. Citation ...

  15. Genetics Home Reference: acral peeling skin syndrome

    Science.gov (United States)

    ... epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010 Jun;130(6):1741-6. doi: 10. ... syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012 May-Jun;29(3):258-63. doi: ...

  16. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. Review. Citation ... ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. Epub ...

  17. Genetics Home Reference: phosphoglycerate mutase deficiency

    Science.gov (United States)

    ... Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center: Metabolic Conditions Genetic Testing Registry (1 link) Glycogen storage disease type ...

  18. Genetics Home Reference: phosphoglycerate kinase deficiency

    Science.gov (United States)

    ... Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource list from the University of Kansas Medical Center: Metabolic Conditions Genetic Testing Registry (2 links) Deficiency of phosphoglycerate kinase ...

  19. Genetics Home Reference: hypokalemic periodic paralysis

    Science.gov (United States)

    ... paralysis Patient Support and Advocacy Resources (2 links) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center GeneReviews (1 link) Hypokalemic Periodic Paralysis Genetic Testing Registry (3 links) Hypokalemic periodic paralysis Hypokalemic ...

  20. Genetics Home Reference: juvenile primary lateral sclerosis

    Science.gov (United States)

    ... Resources (3 links) Motor Neurone Disease Association (UK) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) GeneReviews (1 link) ALS2-Related Disorders Genetic Testing Registry (1 link) Juvenile primary lateral sclerosis ...

  1. Genetics Home Reference: potassium-aggravated myotonia

    Science.gov (United States)

    ... myotonia Patient Support and Advocacy Resources (2 links) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center Genetic Testing Registry (1 link) Potassium aggravated myotonia ClinicalTrials. ...

  2. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions combined pituitary hormone deficiency combined pituitary hormone deficiency Enable Javascript to view the ... boxes. Print All Open All Close All Description Combined pituitary hormone deficiency is a condition that causes ...

  3. Genetics Home Reference: tetra-amelia syndrome

    Science.gov (United States)

    ... Genetics Home Health Conditions tetra-amelia syndrome tetra-amelia syndrome Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Tetra-amelia syndrome is a very rare disorder characterized by ...

  4. Genetics Home Reference: childhood myocerebrohepatopathy spectrum

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions MCHS childhood myocerebrohepatopathy spectrum Enable Javascript to view the expand/ ... Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: ...

  5. 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 ...

  6. Genetics Home Reference: ataxia-telangiectasia

    Science.gov (United States)

    ... 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 ...

  7. Genetics Home Reference: spinocerebellar ataxia type 3

    Science.gov (United States)

    ... 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 ...

  8. 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 ...

  9. Genetics Home Reference: ataxia with oculomotor apraxia

    Science.gov (United States)

    ... Genetics Home Health Conditions ataxia with oculomotor apraxia ataxia with oculomotor apraxia Enable Javascript to view the ... boxes. Download PDF Open All Close All Description Ataxia with oculomotor apraxia is a condition characterized by ...

  10. 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 ...

  11. Genetics Home Reference: inclusion body myopathy 2

    Science.gov (United States)

    ... inclusion body myopathy: the Middle Eastern genetic cluster. Neurology. 2003 May 13;60(9):1519-23. Citation ... vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93. Citation ...

  12. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... Genetics Home Health Conditions ARVC arrhythmogenic right ventricular cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Arrhythmogenic right ventricular cardiomyopathy ( ARVC ) is a form of heart disease that ...

  13. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions familial restrictive cardiomyopathy familial restrictive cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Familial restrictive cardiomyopathy is a genetic form of heart disease. For ...

  14. Genetics Home Reference: central core disease

    Science.gov (United States)

    ... abnormalities such as abnormal curvature of the spine ( scoliosis ), hip dislocation, and joint deformities called contractures that ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  15. Genetics Home Reference: arterial tortuosity syndrome

    Science.gov (United States)

    ... fingers and toes (arachnodactyly); curvature of the spine ( scoliosis ); or a chest that is either sunken (pectus ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  16. Genetics Home Reference: Camurati-Engelmann disease

    Science.gov (United States)

    ... systems can cause abnormal curvature of the spine ( scoliosis ), joint deformities (contractures), knock knees, and flat feet ( ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  17. Genetics Home Reference: Freeman-Sheldon syndrome

    Science.gov (United States)

    ... have a spine that curves to the side ( scoliosis ). People with Freeman-Sheldon syndrome also have an ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  18. Genetics Home Reference: isodicentric chromosome 15 syndrome

    Science.gov (United States)

    ... and a spine that curves to the side ( scoliosis ). Related Information What does it mean if a ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  19. Genetics Home Reference: Andersen-Tawil syndrome

    Science.gov (United States)

    ... stature and an abnormal curvature of the spine ( scoliosis ). Two types of Andersen-Tawil syndrome are distinguished ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  20. Genetics Home Reference: Cantú syndrome

    Science.gov (United States)

    ... lymphedema ), side-to-side curvature of the spine ( scoliosis ), and reduced bone density (osteopenia). Some affected children ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  1. Genetics Home Reference: Klippel-Feil syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) due to malformation of the vertebrae; fusion of ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  2. 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,…

  3. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

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

  4. 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. ... All Open All Close All Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  5. Genetics Home Reference: pyruvate kinase deficiency

    Science.gov (United States)

    ... National (UK) Information Centre for Metabolic Diseases National Organization for Rare Disorders (NORD): Pyruvate Kinase Deficiency Genetic Testing Registry (1 link) Pyruvate kinase deficiency of red cells Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  6. Genetics Home Reference: type 1 diabetes

    Science.gov (United States)

    ... JM, Mayer-Davis EJ. Epidemiology of type 1 diabetes. Endocrinol Metab Clin North Am. 2010 Sep;39(3):481-97. doi: 10.1016/j.ecl.2010.05.011. Review. Citation on PubMed or Free article on PubMed ... G. Insights into type 1 diabetes provided by genetic analyses. Curr Opin Endocrinol Diabetes ...

  7. 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 ...

  8. Genetics Home Reference: SOX2 anophthalmia syndrome

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of SOX2 anophthalmia syndrome: GeneReview: SOX2-Related Eye Disorders Genetic Testing Registry: Microphthalmia syndromic 3 MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about ...

  9. Genetics Home Reference: idiopathic inflammatory myopathy

    Science.gov (United States)

    ... 1001/jama.2010.1977. Citation on PubMed or Free article on PubMed Central Shamim EA, Miller FW. Familial autoimmunity and the idiopathic inflammatory myopathies. Curr Rheumatol Rep. 2000 Jun;2(3):201-11. Review. Citation on PubMed Shamim EA, Rider LG, Miller FW. Update on the genetics of ...

  10. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... develop potentially fatal heart failure, which may require heart transplantation. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic ... that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the ...

  11. Genetics Home Reference: Bietti crystalline dystrophy

    Science.gov (United States)

    ... Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74( ...

  12. Genetics Home Reference: restless legs syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions restless legs syndrome restless legs syndrome Enable Javascript to view the expand/collapse boxes. ... Other Names for This Condition Ekbom syndrome Ekbom's syndrome restless leg syndrome RLS WED Willis-Ekbom disease Related Information ...

  13. Genetics Home Reference: facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... Padberg GW, Lunt PW, van der Maarel SM. Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: ... Reviewed : August 2014 Published : August 30, 2016 The resources on this site should not be used as a ... of Health & Human Services National Institutes of Health National Library of ...

  14. 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...

  15. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... the signs and symptoms of CMAMMA , although the mechanisms are unclear. Learn more about the gene associated ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  16. Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

    Science.gov (United States)

    ... Central Sudarshan S, Pinto PA, Neckers L, Linehan WM. Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer-- ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  17. Genetics Home Reference: head and neck squamous cell carcinoma

    Science.gov (United States)

    ... SB, Rischin D, Dobrovic A, Solomon B. Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  18. Genetics Home Reference: DMD-associated dilated cardiomyopathy

    Science.gov (United States)

    ... on PubMed Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart. 2004 Aug; ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

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

    Science.gov (United States)

    ... Heuer H, Trajkovic M, Bauer K, Visser TJ. Mechanisms of disease: psychomotor retardation and high T3 levels ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  20. A sequence-based genetic linkage map as a reference for Brassica rapa pseudochromosome assembly

    Directory of Open Access Journals (Sweden)

    Cheng Feng

    2011-05-01

    Full Text Available Abstract Background Brassica rapa is an economically important crop and a model plant for studies concerning polyploidization and the evolution of extreme morphology. The multinational B. rapa Genome Sequencing Project (BrGSP was launched in 2003. In 2008, next generation sequencing technology was used to sequence the B. rapa genome. Several maps concerning B. rapa pseudochromosome assembly have been published but their coverage of the genome is incomplete, anchoring approximately 73.6% of the scaffolds on to chromosomes. Therefore, a new genetic map to aid pseudochromosome assembly is required. Results This study concerns the construction of a reference genetic linkage map for Brassica rapa, forming the backbone for anchoring sequence scaffolds of the B. rapa genome resulting from recent sequencing efforts. One hundred and nineteen doubled haploid (DH lines derived from microspore cultures of an F1 cross between a Chinese cabbage (B. rapa ssp. pekinensis DH line (Z16 and a rapid cycling inbred line (L144 were used to construct the linkage map. PCR-based insertion/deletion (InDel markers were developed by re-sequencing the two parental lines. The map comprises a total of 507 markers including 415 InDels and 92 SSRs. Alignment and orientation using SSR markers in common with existing B. rapa linkage maps allowed ten linkage groups to be identified, designated A01-A10. The total length of the linkage map was 1234.2 cM, with an average distance of 2.43 cM between adjacent marker loci. The lengths of linkage groups ranged from 71.5 cM to 188.5 cM for A08 and A09, respectively. Using the developed linkage map, 152 scaffolds were anchored on to the chromosomes, encompassing more than 82.9% of the B. rapa genome. Taken together with the previously available linkage maps, 183 scaffolds were anchored on to the chromosomes and the total coverage of the genome was 88.9%. Conclusions The development of this linkage map is vital for the integration of genome

  1. Genetic Relatedness of Trichomonas vaginalis Reference and Clinical Isolates

    OpenAIRE

    Cornelius, Denise C.; Mena, Leandro; Lushbaugh, William B.; Meade, John C.

    2010-01-01

    We have determined the metronidazole susceptibility status of 20 Trichomonas vaginalis isolates from American Type Culture Collection (ATCC) and assessed the level of genetic relatedness in these isolates using 32 additional T. vaginalis clinical isolates for comparison. These ATCC isolates are commonly used as reference strains in T. vaginalis research and this information provides a rational basis for selection of reference strains for use in comparative studies of T. vaginalis phenotypic a...

  2. Genetic relatedness of Trichomonas vaginalis reference and clinical isolates.

    Science.gov (United States)

    Cornelius, Denise C; Mena, Leandro; Lushbaugh, William B; Meade, John C

    2010-12-01

    We have determined the metronidazole susceptibility status of 20 Trichomonas vaginalis isolates from American Type Culture Collection (ATCC) and assessed the level of genetic relatedness in these isolates using 32 additional T. vaginalis clinical isolates for comparison. These ATCC isolates are commonly used as reference strains in T. vaginalis research and this information provides a rational basis for selection of reference strains for use in comparative studies of T. vaginalis phenotypic and clinical characteristics. PMID:21118935

  3. 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

  4. 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 ...

  5. Anchor reinforcements

    Energy Technology Data Exchange (ETDEWEB)

    Levkovich, P.Ye.; Sal' nikov, V.K.; Savich, N.S.

    1980-11-30

    An anchor reinforcement includes an anchor shaft, an elastic jig with a separator wall having compartments placed parallely along it and filled with reinforcement material and a device for destroying the jig wall separator. To quickly put the anchor in place and increase the reliability of the reinforcement by mixing the reinforcement material components better, the device for destroying the jig separator wall was made in the shape of a shovel, fastened to the anchor shaft and the separator wall has a longitudinal hollow for holding the anchor shaft/shovel.

  6. Observed Score Equating Using a Mini-Version Anchor and an Anchor with Less Spread of Difficulty: A Comparison Study

    Science.gov (United States)

    Liu, Jinghua; Sinharay, Sandip; Holland, Paul; Feigenbaum, Miriam; Curley, Edward

    2011-01-01

    Two different types of anchors are investigated in this study: a mini-version anchor and an anchor that has a less spread of difficulty than the tests to be equated. The latter is referred to as a midi anchor. The impact of these two different types of anchors on observed score equating are evaluated and compared with respect to systematic error…

  7. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Müllerian aplasia and hyperandrogenism Müllerian ...

  8. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions X-linked dystonia-parkinsonism X- ...

  9. Genetics Home Reference: hypermanganesemia with dystonia, polycythemia, and cirrhosis

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions HMDPC hypermanganesemia with dystonia, polycythemia, ...

  10. Genetics Home Reference: early-onset primary dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions early-onset primary dystonia early- ...

  11. Genetics Home Reference: Charcot-Marie-Tooth disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Charcot-Marie-Tooth disease Charcot- ...

  12. Genetics Home Reference: task-specific focal dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions task-specific focal dystonia task- ...

  13. Genetics Home Reference: Mayer-Rokitansky-Küster-Hauser syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Mayer-Rokitansky-Küster-Hauser syndrome ...

  14. Genetics Home Reference: rapid-onset dystonia parkinsonism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions rapid-onset dystonia parkinsonism rapid- ...

  15. Genetics Home Reference: carbamoyl phosphate synthetase I deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions carbamoyl phosphate synthetase I deficiency ...

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

    Science.gov (United States)

    ... 9 links) American Heart Association Centre for Genetics Education (Australia) Cleveland Clinic Disease InfoSearch: Jervell Lange-Nielsen syndrome ... and Advocacy Resources (5 links) Centre for Genetics Education (Australia) National Association of the Deaf National Organization for ...

  17. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    Science.gov (United States)

    ... Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum ... Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub ... Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub ...

  18. Genetics Home Reference: Koolen-de Vries syndrome

    Science.gov (United States)

    ... Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub ... Genet A. 2013 Jan;161A(1):21-6. doi: 10.1002/ajmg.a.35652. Epub 2012 Nov ... Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. Citation ...

  19. Physical mapping in large genomes: accelerating anchoring of BAC contigs to genetic maps through in silico analysis.

    Science.gov (United States)

    Paux, Etienne; Legeai, Fabrice; Guilhot, Nicolas; Adam-Blondon, Anne-Françoise; Alaux, Michaël; Salse, Jérôme; Sourdille, Pierre; Leroy, Philippe; Feuillet, Catherine

    2008-02-01

    Anchored physical maps represent essential frameworks for map-based cloning, comparative genomics studies, and genome sequencing projects. High throughput anchoring can be achieved by polymerase chain reaction (PCR) screening of bacterial artificial chromosome (BAC) library pools with molecular markers. However, for large genomes such as wheat, the development of high dimension pools and the number of reactions that need to be performed can be extremely large making the screening laborious and costly. To improve the cost efficiency of anchoring in such large genomes, we have developed a new software named Elephant (electronic physical map anchoring tool) that combines BAC contig information generated by FingerPrinted Contig with results of BAC library pools screening to identify BAC addresses with a minimal amount of PCR reactions. Elephant was evaluated during the construction of a physical map of chromosome 3B of hexaploid wheat. Results show that a one dimensional pool screening can be sufficient to anchor a BAC contig while reducing the number of PCR by 384-fold thereby demonstrating that Elephant is an efficient and cost-effective tool to support physical mapping in large genomes. PMID:18038165

  20. Genetics Home Reference: Ellis-van Creveld syndrome

    Science.gov (United States)

    ... syndrome: Genetic Testing Registry: Chondroectodermal dysplasia MedlinePlus Encyclopedia: Congenital Heart Disease MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome MedlinePlus Encyclopedia: ...

  1. Genetics Home Reference: 1q21.1 microduplication

    Science.gov (United States)

    ... 4 links) Encyclopedia: Tetralogy of Fallot Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: Speech and Communication Disorders Genetic and Rare Diseases Information ...

  2. Genetics Home Reference: 16p11.2 deletion syndrome

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (3 links) Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: Speech and Communication Disorders Genetic and Rare Diseases Information ...

  3. 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

  4. Genetics Home Reference: familial idiopathic basal ganglia calcification

    Science.gov (United States)

    ... Wang QK, Liu JY. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic ... DH. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ... DH. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr ...

  5. Genetics Home Reference: Marinesco-Sjögren syndrome

    Science.gov (United States)

    ... in my area? Other Names for This Condition Garland-Moorhouse syndrome hereditary oligophrenic cerebello-lental degeneration Marinesco-Garland syndrome MSS Related Information How are genetic conditions ...

  6. Genetics Home Reference: lattice corneal dystrophy type II

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of lattice corneal dystrophy type II: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Meretoja syndrome Merck Manual ...

  7. Genetics Home Reference: lattice corneal dystrophy type I

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of lattice corneal dystrophy type I: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Lattice corneal dystrophy Type ...

  8. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Muscular dystrophies are a group of genetic conditions characterized by ...

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

    Science.gov (United States)

    ... Genetics Home Health Conditions ADPEAF autosomal dominant partial epilepsy with auditory features Enable Javascript to view the ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

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

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions MERRF myoclonic epilepsy with ragged-red fibers Enable Javascript to view ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  11. Genetics Home Reference: myoclonic epilepsy myopathy sensory ataxia

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions MEMSA myoclonic epilepsy myopathy sensory ataxia Enable Javascript to view the ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  12. Genetics Home Reference: collagen VI-related myopathy

    Science.gov (United States)

    ... Genetics Home Health Conditions collagen VI-related myopathy collagen VI-related myopathy Enable Javascript to view the ... boxes. Print All Open All Close All Description Collagen VI-related myopathy is a group of disorders ...

  13. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ... growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet. 2004 Apr 15;13(8): ...

  14. Genetics Home Reference: neonatal onset multisystem inflammatory disease

    Science.gov (United States)

    ... JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review. Citation ... F. Autoinflammatory syndromes with a dermatological perspective. J Dermatol. 2007 Sep;34(9):601-18. Review. Citation ...

  15. Genetics Home Reference: hereditary myopathy with early respiratory failure

    Science.gov (United States)

    ... list from the University of Kansas Medical Center: Muscular Dystrophy / Atrophy GeneReviews (1 link) Hereditary Myopathy with Early Respiratory Failure (HMERF) Genetic Testing Registry (1 link) Hereditary myopathy with early ...

  16. 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 ...

  17. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    Science.gov (United States)

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

  18. 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 ...

  19. Genetics Home Reference: congenital insensitivity to pain with anhidrosis

    Science.gov (United States)

    ... G, Pagliardini S, Pierotti MA, Greco A. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic ... Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. ...

  20. Genetics Home Reference: pulmonary veno-occlusive disease

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions pulmonary veno-occlusive disease pulmonary veno-occlusive disease Enable Javascript to view the ... Disease Control and Prevention: Pulmonary Hypertension Fact Sheet Disease InfoSearch: Pulmonary venoocclusive ... pulmonary venoocclusive disease Orphanet: Pulmonary ...

  1. Genetics Home Reference: familial thoracic aortic aneurysm and dissection

    Science.gov (United States)

    ... inguinal hernia ), an abnormal curvature of the spine ( scoliosis ), or a purplish skin discoloration (livedo reticularis) caused ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

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

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ), and a sunken chest (pectus excavatum). The features ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  3. Genetics Home Reference: congenital fiber-type disproportion

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). Approximately 30 percent of people with this disorder ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  4. Genetics Home Reference: autosomal dominant hyper-IgE syndrome

    Science.gov (United States)

    ... movement ( hyperextensibility ), an abnormal curvature of the spine ( scoliosis ), reduced bone density (osteopenia), and a tendency for ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  5. Genetics Home Reference: renal tubular acidosis with deafness

    Science.gov (United States)

    ... Prevention: Hearing Loss in Children Centre for Genetics Education (Australia): Deafness and Hearing Loss Gallaudet University: Laurent Clerc National Deaf Education Center KidsHealth: What's Hearing Loss? MalaCards: renal tubular ...

  6. Genetics Home Reference: carnitine-acylcarnitine translocase deficiency

    Science.gov (United States)

    ... deficiency Related Information How are genetic conditions and genes named? ... Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M. A novel SLC25A20 splicing mutation in patients of different ethnic origin with ...

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

    Science.gov (United States)

    Dronamraju, Krishna R

    2012-01-01

    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. PMID:22754215

  8. Genetics Home Reference: medullary cystic kidney disease type 1

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions medullary cystic kidney disease type 1 medullary cystic kidney disease type 1 Enable Javascript to ... and How They Work Educational Resources (4 links) Disease InfoSearch: Medullary cystic kidney disease 1 Merck Manual Consumer Version: ...

  9. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... of GM2-gangliosidosis, AB variant: Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type ...

  10. Genetics Home Reference: 22q11.2 deletion syndrome

    Science.gov (United States)

    ... Seattle, Washington Children's Hospital of Philadelphia Cincinnati Children's Hospital Medical Center Disease InfoSearch: 22q11.2 Deletion Syndrome Emory University School of Medicine Genetics Education Materials for School Success (GEMSS) MalaCards: chromosome 22q11. ...

  11. 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

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

    OpenAIRE

    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 of an event-specific GMO detection method organised by the European Union Reference Laboratory for Genetically Modified Food and Feed (EURL-GMFF). Both Rikilt and the Routine Field Laboratory of th...

  13. 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...

  14. 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.

  15. 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. PMID:22775355

  16. Test Score Equating Using a Mini-Version Anchor and a Midi Anchor: A Case Study Using SAT[R] Data

    Science.gov (United States)

    Liu, Jinghua; Sinharay, Sandip; Holland, Paul W.; Curley, Edward; Feigenbaum, Miriam

    2011-01-01

    This study explores an anchor that is different from the traditional miniature anchor in test score equating. In contrast to a traditional "mini" anchor that has the same spread of item difficulties as the tests to be equated, the studied anchor, referred to as a "midi" anchor (Sinharay & Holland), has a smaller spread of item difficulties than…

  17. 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.

  18. 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

  19. 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.

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

    OpenAIRE

    Ollitrault Patrick; Terol Javier; Chen Chunxian; Federici Claire T; Lotfy Samia; Hippolyte Isabelle; Ollitrault Frédérique; Bérard Aurélie; Chauveau Aurélie; Cuenca Jose; Costantino Gilles; Kacar Yildiz; Mu Lisa; Garcia-Lor Andres; Froelicher Yann

    2012-01-01

    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 assembl...

  1. 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

  2. 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

  3. 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

  4. 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

  5. Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help

    Science.gov (United States)

    Calvo, Sherri; Greenberg, Kathleen; Forman Neall, Lisa; Morrison, Stephanie

    2016-01-01

    Precision medicine focuses on understanding individual variability in disease prevention, care, and treatment. The Precision Medicine Initiative, launched by President Obama in early 2015, aims to bring this approach to all areas of health care. However, few consumer-friendly resources exist for the public to learn about precision medicine and the conditions that could be affected by this approach to care. Genetics Home Reference, a website from the US National Library of Medicine, seeks to support precision medicine education by providing the public with summaries of genetic conditions and their associated genes, as well as information about issues related to precision medicine such as disease risk and pharmacogenomics. With the advance of precision medicine, consumer-focused resources like Genetics Home Reference can be foundational in providing context for public understanding of the increasing amount of data that will become available. PMID:27122232

  6. 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.

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

    OpenAIRE

    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 and Consumer Product Safety Authority (NVWA) participated in several proficiency tests with good results. Also RIKILT participated in two EUR/NRL meetings and the Working Group on Method Verificati...

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

    OpenAIRE

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

    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. Methods 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 partic...

  9. FRP-to-concrete joint assemblies anchored with multiple FRP anchors: experimental investigation

    OpenAIRE

    Zhang, H.; Smith, ST

    2010-01-01

    Higher strains can be developed in fibre-reinforced polymer (FRP) composites which are bonded to the surfaces of concrete members if the FRP is anchored. Anchors made from FRP (also known as FRP spike anchors but herein referred to as FRP anchors) are a promising type of anchorage as they can be applied to a variety of different shaped structural elements and they have been shown to be effective in en-hancing the strain capacity of externally bonded FRP. Limited research, however, has been co...

  10. 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

    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 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...... of microbial genomes without the need for reference sequences. We demonstrate the method on data from 396 human gut microbiome samples and identify 7,381 co-abundance gene groups (CAGs), including 741 metagenomic species (MGS). We use these to assemble 238 high-quality microbial genomes and identify...

  11. 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

  12. 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 perception did not change after the genetic counseling session (60 %). Those who changed their feeling about the risk after counseling showed a decreased perception of the risk (p 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.

  13. Development of a certified reference material for genetically modified potato with altered starch composition.

    Science.gov (United States)

    Broothaerts, Wim; Corbisier, Philippe; Emons, Hendrik; Emteborg, Håkan; Linsinger, Thomas P J; Trapmann, Stefanie

    2007-06-13

    The presence of genetically modified organisms (GMOs) in food and feed products is subject to regulation in the European Union (EU) and elsewhere. As part of the EU authorization procedure for GMOs intended for food and feed use, reference materials must be produced for the quality control of measurements to quantify the GMOs. Certified reference materials (CRMs) are available for a range of herbicide- and insect-resistant genetically modified crops such as corn, soybean, and cotton. Here the development of the first CRM for a GMO that differs from its non-GMO counterpart in a major compositional constituent, that is, starch, is described. It is shown that the modification of the starch composition of potato (Solanum tuberosum L.) tubers, together with other characteristics of the delivered materials, have important consequences for the certification strategy. Moreover, the processing and characterization of the EH92-527-1 potato material required both new and modified procedures, different from those used routinely for CRMs produced from genetically modified seeds. PMID:17508757

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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

    2009-12-01

    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.

  20. 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.

  1. 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.

  2. 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...... anchoring is considered to be a main activity, is outlined. The task of anchoring visions is described, and techniques and activities are suggested with respect to those actors that have to act on the visions and the recommendations from a design proposal. The paper concludes that obtaining appropriate...

  3. A sequence-based genetic linkage map as a reference for Brassica rapa pseudochromosome assembly

    OpenAIRE

    Cheng Feng; Wang Qian; Liao Yongcui; Deng Jie; Wang Hui(Wendy); Liu Bo; Sun Silong; Wang Yan; Wang Xiaowu; Wu Jian

    2011-01-01

    Abstract Background Brassica rapa is an economically important crop and a model plant for studies concerning polyploidization and the evolution of extreme morphology. The multinational B. rapa Genome Sequencing Project (BrGSP) was launched in 2003. In 2008, next generation sequencing technology was used to sequence the B. rapa genome. Several maps concerning B. rapa pseudochromosome assembly have been published but their coverage of the genome is incomplete, anchoring approximately 73.6% of t...

  4. 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

  5. Susceptibility to anchoring effects

    OpenAIRE

    Todd McElroy; Keith Dowd

    2007-01-01

    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 p...

  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. 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

  8. 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.

  9. 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.

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

    Science.gov (United States)

    2016-01-01

    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. PMID:27341493

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

    Science.gov (United States)

    Oszust, Mariusz

    2016-01-01

    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. PMID:27341493

  12. Genetics Home Reference: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions T-cell immunodeficiency, congenital alopecia, ...

  13. Genetics Home Reference: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions CADASIL cerebral autosomal dominant arteriopathy ...

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

    Science.gov (United States)

    ... H, Marquis E, Bellanné-Chantelot C, Robert JJ. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic ... critical minimal genetic region for the imprinting disorder 6q24 transient neonatal ...

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

    Science.gov (United States)

    ... Eye Diseases Health Topic: Muscle Cramps Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) ... Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011 Feb;24(1):63- ...

  16. 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

  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. 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

  19. 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 , ...

  20. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) or thinning of the bones ( osteoporosis ). Adrenal hypoplasia ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

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

    OpenAIRE

    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-month period, we recorded demographic characteristics like gender, personal and family history of cancer, ethnicity and eligibility for genetic testing for 406 consecutive counselees using a speci...

  2. 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

  3. Development and application of a multi-targeting reference plasmid as calibrator for analysis of five genetically modified soybean events.

    Science.gov (United States)

    Pi, Liqun; Li, Xiang; Cao, Yiwei; Wang, Canhua; Pan, Liangwen; Yang, Litao

    2015-04-01

    Reference materials are important in accurate analysis of genetically modified organism (GMO) contents in food/feeds, and development of novel reference plasmid is a new trend in the research of GMO reference materials. Herein, we constructed a novel multi-targeting plasmid, pSOY, which contained seven event-specific sequences of five GM soybeans (MON89788-5', A2704-12-3', A5547-127-3', DP356043-5', DP305423-3', A2704-12-5', and A5547-127-5') and sequence of soybean endogenous reference gene Lectin. We evaluated the specificity, limit of detection and quantification, and applicability of pSOY in both qualitative and quantitative PCR analyses. The limit of detection (LOD) was as low as 20 copies in qualitative PCR, and the limit of quantification (LOQ) in quantitative PCR was 10 copies. In quantitative real-time PCR analysis, the PCR efficiencies of all event-specific and Lectin assays were higher than 90%, and the squared regression coefficients (R(2)) were more than 0.999. The quantification bias varied from 0.21% to 19.29%, and the relative standard deviations were from 1.08% to 9.84% in simulated samples analysis. All the results demonstrated that the developed multi-targeting plasmid, pSOY, was a credible substitute of matrix reference materials, and could be used as a reliable reference calibrator in the identification and quantification of multiple GM soybean events.

  4. 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.

  5. 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

  6. 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

  7. Genome Sequence of Klebsiella pneumoniae Ecl8, a Reference Strain for Targeted Genetic Manipulation

    OpenAIRE

    Fookes, Maria; Yu, Jing; De Majumdar, Shyamasree; Thomson, Nicholas; Schneiders, Thamarai

    2013-01-01

    We report the genome sequence of Klebsiella pneumoniae subsp. pneumoniae Ecl8, a spontaneous streptomycin-resistant mutant of strain ECL4, derived from NCIB 418. K. pneumoniae Ecl8 has been shown to be genetically tractable for targeted gene deletion strategies and so provides a platform for in-depth analyses of this species.

  8. 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

  9. Estimation of the minimum uncertainty of DNA concentration in a genetically modified maize sample candidate certified reference material.

    Science.gov (United States)

    Prokisch, J; Zeleny, R; Trapmann, S; Le Guern, L; Schimmel, H; Kramer, G N; Pauwels, J

    2001-08-01

    Homogeneity testing and the determination of minimum sample mass are an important part of the certification of reference materials. The smallest theoretically achievable uncertainty of certified concentration values is limited by the concentration distribution of analyte in the different particle size fractions of powdered biological samples. This might be of special importance if the reference material is prepared by dry mixing, a dilution technique which is used for the production of the new and third generation of genetically modified (GMO) plant certified reference materials. For the production of dry mixed PMON 810 maize reference material a computer program was developed to calculate the theoretically smallest uncertainty for a selected sample intake. This model was used to compare three differently milled maize samples, and the effect of dilution on the uncertainty of the DNA content of GMO maize was estimated as well. In the case of a 50-mg sample mass the lowest achievable standard deviation was 2% for the sample containing 0.1% GMO and the minimum deviation was less than 0.5% for the sample containing 5% GMO. PMID:11569879

  10. 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.

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

    Science.gov (United States)

    Hall, Rabea A; Liebe, Roman; Hochrath, Katrin; Kazakov, Andrey; Alberts, Rudi; Laufs, Ulrich; Böhm, Michael; Fischer, Hans-Peter; Williams, Robert W; Schughart, Klaus; Weber, Susanne N; Lammert, Frank

    2014-01-01

    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. PMID:24586654

  12. Epstein on Anchors and Grounds

    Directory of Open Access Journals (Sweden)

    Guala Francesco

    2016-03-01

    Full Text Available The distinction between anchors and grounds is one of the most innovative contributions of The Ant Trap. In this commentary I will argue that the distinction suffers from an ambiguity between tokens and types. This leads Epstein to endorse pluralism about anchors and grounds, a position that is not justified in the book and to which there are plausible alternatives.

  13. 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. PMID:16244921

  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. 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.

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

    OpenAIRE

    Liang Li; Xiujie Zhang; Yusong Wan; Wujun Jin

    2013-01-01

    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 ...

  17. 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.

  18. 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.

  19. 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. PMID:21308579

  20. 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

    Lynch syndrome is associated with deficiency of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. However, most MLH1 deficient tumours are sporadic in origin, and they can be identified if harbouring a BRAF V600E mutation or hypermethylation of the MLH1 gene promoter. The aim of this study...... 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...... protein expression with immunohistochemistry. DNA from MLH1 negative tumours was sequenced for BRAF mutations. If BRAF was wild-type, MLH1 promoter was subsequently analyzed for promoter hypermethylation. Most tumours, 251 (88%), stained positive for all four proteins. Six (2%) had negative MSH2 and one...

  1. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... skin to allow removal of some of the soft tissue where the screwlike fixture will be anchored. The ... screen, acting as a hinge. Beneath that the soft tissue consisting of fat and some muscle is removed. ...

  2. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... The Baha system consists of a bone-anchored titanium fixture that is implanted in the mastoid bone, ... the -- great. I'm going to grab the titanium implant. And what I want you to notice ...

  3. Anchoring: A "Cure" for Epy.

    Science.gov (United States)

    Thalgott, Mary R.

    1986-01-01

    Anchoring, a neurolinguistic programing technique, was successful in helping a sixth grader with learning disabilities reduce his anxiety reaction to math tasks. Other uses for the approach are noted and guidelines offered. (CL)

  4. 76 FR 30301 - Commercial Acquisition; Anchor Tenancy

    Science.gov (United States)

    2011-05-25

    ... SPACE ADMINISTRATION 48 CFR Part 1812 RIN 2700-AD64 Commercial Acquisition; Anchor Tenancy AGENCY... multi-year anchor tenancy contracts for commercial space goods or services. Anchor Tenancy means ``an.... Background NASA's FAR Supplement currently includes an incorrect statement that anchor tenancy contracts...

  5. Genetics Home Reference: trichothiodystrophy

    Science.gov (United States)

    ... of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 ... Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype ...

  6. Genetics Home Reference: anencephaly

    Science.gov (United States)

    ... to close during the first few weeks of embryonic development. The neural tube is a layer of cells ... called vitamin B9). A shortage (deficiency) of this vitamin is an established ... involved in the development of the neural tube have also been studied ...

  7. Genetics Home Reference: porphyria

    Science.gov (United States)

    ... Aug 16;143(4):316. Citation on PubMed Badminton MN, Elder GH. Molecular mechanisms of dominant expression ... SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker ...

  8. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... common inherited form of high cholesterol is called familial hypercholesterolemia . This condition affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners ...

  9. Genetics Home Reference: hypochondrogenesis

    Science.gov (United States)

    ... for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...

  10. Genetics Home Reference: fibrochondrogenesis

    Science.gov (United States)

    ... these genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure ... that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible ...

  11. Genetics Home Reference: achondrogenesis

    Science.gov (United States)

    ... for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the ... the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues ...

  12. Genetics Home Reference: monilethrix

    Science.gov (United States)

    ... clinicopathological illustration of a cortical defect. Br J Dermatol. 1993 Mar;128(3):327-31. Citation on ... Zlotogorski A. De novo mutations in monilethrix. Exp Dermatol. 2003 Dec;12(6):882-5. Citation on ...

  13. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... it appears to play an important role in cell proliferation. Mutations in the ALK gene result in an ... Constitutively active anaplastic lymphoma kinase may induce abnormal proliferation of immature nerve cells and lead to neuroblastoma . Several mutations in the ...

  14. Genetics Home Reference: hypophosphatasia

    Science.gov (United States)

    ... have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead ...

  15. Genetics Home Reference: alkaptonuria

    Science.gov (United States)

    ... Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013 May;66(5): ... Reviewed : November 2013 Published : August 30, 2016 The resources on this site should not be used as a ... of Health & Human Services National Institutes of Health National Library of ...

  16. Genetics Home Reference: histidinemia

    Science.gov (United States)

    ... by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most ...

  17. Genetics Home Reference: polymicrogyria

    Science.gov (United States)

    ... with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria , affects the entire brain. This condition causes severe intellectual disability, problems with ...

  18. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Review. Citation on PubMed Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia ... 6(6):488-501. Review. Citation on PubMed Oldenburg J, El-Maarri O. New insight into the ...

  19. Estimation of parameters for the electrostatic discharge current equation with real human discharge events reference using genetic algorithms

    Science.gov (United States)

    Katsivelis, P. S.; Gonos, I. F.; Stathopulos, I. A.

    2010-10-01

    Thorough study of the electrostatic discharge (ESD) current equation shows that it may be different from the equation proposed in the IEC 61000-4-2 Standard. This problem is dealt with in this paper. Using a 2.5 GHz digital oscilloscope and a 50 Ω Pellegrini target as the measuring system, and a dc power supply to provide a charging voltage of 2 kVdc, a series of measurements were performed, so real human-to-metal ESD current waveforms were recorded. Treating the average waveform as a reference, a genetic algorithm (GA) was applied to the equation of the IEC 61000-4-2 Standard for the ESD current, in order to achieve its best fitting to the data set. Four different error norms were used for the GA applications. The best result of the applications of each of them was saved and compared to the others. Thus, a very satisfactory modification of the Standard's equation is presented, which is closer to the real ESD current waveform.

  20. Analysis of genetic diversity of southern Spain fig tree (Ficus carica L.) and reference materials as a tool for breeding and conservation.

    Science.gov (United States)

    Perez-Jiménez, M; López, B; Dorado, G; Pujadas-Salvá, A; Guzmán, G; Hernandez, P

    2012-06-01

    The common fig tree (Ficus carica L.) is a Mediterranean crop with problematic cultivar identification. The recovery and conservation of possible local varieties for ecological production requires the previous genetic characterization of the available germplasm. In this context, 42 lines corresponding to 12 local varieties and two caprifigs, in addition to 15 reference samples have been fingerprinted using 21 SSR markers. A total of 77 alleles were revealed, detecting a useful level of genetic variability within the local germplasm pools. UPGMA clustering analysis has revealed the genetic structure and relationships among the local and reference germplasm. Eleven of the local varieties could be identified and defined as obtained clusters, showing that SSR analysis is an efficient method to evaluate the Andalusian fig tree diversity for on-farm conservation.

  1. 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

  2. Permanent ground anchors: Nicholson design criteria

    Science.gov (United States)

    Nicholson, P. J.; Uranowski, D. D.; Wycliffe-Jones, P. T.

    1982-09-01

    The methods used by Nicholson Construction Company in the design of permanent ground anchors specifically as related to retaining walls are discussed. Basic soil parameters, design concepts, drilling and grouting methods for ground anchors are discussed. Particular emphasis is placed on anchors founded in soil rather than rock formations. Also, soil properties necessary for the proper design of anchored retaining walls are detailed. The second chapter of the report is devoted to a general discussion of retaining wall and anchor design. In addition, a design example of an anchored retaining wall is presented in a step by step manner.

  3. 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 ...

  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. 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

  6. 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.

  7. 77 FR 65496 - Commercial Acquisition; Anchor Tenancy

    Science.gov (United States)

    2012-10-29

    ... . SUPPLEMENTARY INFORMATION: A. Background NASA published a proposed rule in the Federal Register at 76 FR 30301... SPACE ADMINISTRATION 48 CFR Part 1812 RIN 2700-AD64 Commercial Acquisition; Anchor Tenancy AGENCY... limited conditions, to issue Anchor Tenancy contracts. Anchor Tenancy means ``an arrangement in which...

  8. DEX-1 and DYF-7 establish sensory dendrite length by anchoring dendritic tips during cell migration

    OpenAIRE

    Heiman, Maxwell G.; Shaham, Shai

    2009-01-01

    Cells are devices whose structures delimit function. For example, in the nervous system, neuronal and glial shapes dictate paths of information flow. To understand how cells acquire their shapes, we examined the formation of a sense organ in C. elegans. Using time-lapse imaging, we found that sensory dendrites form by stationary anchoring of dendritic tips during cell-body migration. A genetic screen identified DEX-1 and DYF-7, extracellular proteins required for dendritic tip anchoring, whic...

  9. Anchoring in numeric judgments of visual stimuli

    Directory of Open Access Journals (Sweden)

    Linda eLangeborg

    2016-02-01

    Full Text Available 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 source credibility or cognitive load, the results imply that the process behind anchoring in visual tasks is predominantly automatic and unconscious.

  10. 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.

  11. 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. PMID:26941684

  12. 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.

  13. 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.

  14. Shifting Nominal Anchors: The Experience of Mexico

    OpenAIRE

    Leonardo Leiderman; Nissan Liviatan; Alfredo Thorne

    1995-01-01

    In the mid-1980’s Mexico successfully brought down its high rate of inflation by using the exchange rate as nominal anchor in combination with strict fiscal discipline, tight monetary policy, and incomes policy. This paper discusses the role of exchange rate policy as nominal anchor in Mexico and develops the inflation target as the monetary framework for anchoring prices. It also describes how Mexico is applying this frame work while shifting to a more flexible exchange regime and discusses ...

  15. A lunar/Martian anchor emplacement system

    Science.gov (United States)

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

    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.

  16. Capital Asset Pricing Model Adjusted for Anchoring

    OpenAIRE

    Hammad, Siddiqi

    2015-01-01

    I show that adjusting CAPM for anchoring provides a unified explanation for the size, value, and momentum effects. Anchoring adjusted CAPM (ACAPM) predicts that stock splits are associated with positive abnormal returns and an increase in return volatility, whereas the reverse stock-splits are associated with negative abnormal returns and a fall in return volatility. Existing empirical evidence strongly supports these predictions. Anchoring has the effect of pushing up the equity premium, a ...

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. Link Anchors in Images: Is there Truth?

    NARCIS (Netherlands)

    Aly, Robin; McGuinness, Kevin; Kleppe, Martijn; Ordelman, Roeland; O'Connor, Noel; Jong, de Franciska

    2012-01-01

    While automatic linking in text collections is well understood, little is known about links in images. In this work, we investigate two aspects of anchors, the origin of a link, in images: 1) the requirements of users for such anchors, e.g. the things users would like more information on, and 2) pos

  2. 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.

  3. Anchors of Religious Commitment in Adolescents

    Science.gov (United States)

    Layton, Emily; Dollahite, David C.; Hardy, Sam A.

    2011-01-01

    This study explores adolescent religious commitment using qualitative data from a religiously diverse (Jewish, Christian, Muslim) sample of 80 adolescents. A new construct, "anchors of religious commitment," grounded in interview data, is proposed to describe what adolescents commit to as a part of their religious identity. Seven anchors of…

  4. Suction anchors for floating production systems

    Energy Technology Data Exchange (ETDEWEB)

    Tjelta, T.I.; Rusas, P. [Statoil a.s. (Norway); Edvardsen, G. [HEX a.s. (Norway)

    1996-12-31

    Since the suction anchor is a recent development in its current use, this work provides a brief historical background. It is shown that the suction anchor throughout evolution today is a competitive foundation solution for many applications. Examples from these categories are included in this paper. Also several installation methods are discussed. 3 refs., 7 figs., 2 tabs.

  5. Reference genome sequence of the model plant Setaria

    Energy Technology Data Exchange (ETDEWEB)

    Bennetzen, Jeffrey L [ORNL; Yang, Xiaohan [ORNL; Ye, Chuyu [ORNL; Tuskan, Gerald A [ORNL

    2012-01-01

    We generated a high-quality reference genome sequence for foxtail millet (Setaria italica). The {approx}400-Mb assembly covers {approx}80% of the genome and >95% of the gene space. The assembly was anchored to a 992-locus genetic map and was annotated by comparison with >1.3 million expressed sequence tag reads. We produced more than 580 million RNA-Seq reads to facilitate expression analyses. We also sequenced Setaria viridis, the ancestral wild relative of S. italica, and identified regions of differential single-nucleotide polymorphism density, distribution of transposable elements, small RNA content, chromosomal rearrangement and segregation distortion. The genus Setaria includes natural and cultivated species that demonstrate a wide capacity for adaptation. The genetic basis of this adaptation was investigated by comparing five sequenced grass genomes. We also used the diploid Setaria genome to evaluate the ongoing genome assembly of a related polyploid, switchgrass (Panicum virgatum).

  6. 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.

  7. 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...

  8. DEX-1 and DYF-7 establish sensory dendrite length by anchoring dendritic tips during cell migration.

    Science.gov (United States)

    Heiman, Maxwell G; Shaham, Shai

    2009-04-17

    Cells are devices whose structures delimit function. For example, in the nervous system, neuronal and glial shapes dictate paths of information flow. To understand how cells acquire their shapes, we examined the formation of a sense organ in C. elegans. Using time-lapse imaging, we found that sensory dendrites form by stationary anchoring of dendritic tips during cell-body migration. A genetic screen identified DEX-1 and DYF-7, extracellular proteins required for dendritic tip anchoring, which act cooperatively at the time and place of anchoring. DEX-1 and DYF-7 contain, respectively, zonadhesin and zona pellucida domains, and DYF-7 self-associates into multimers important for anchoring. Thus, unlike other dendrites, amphid dendritic tips are positioned by DEX-1 and DYF-7 without the need for long-range guidance cues. In sequence and function, DEX-1 and DYF-7 resemble tectorins, which anchor stereocilia in the inner ear, suggesting that a sensory dendrite anchor may have evolved into part of a mechanosensor. PMID:19344940

  9. 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.

  10. 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.

  11. Anchoring Adjusted Capital Asset Pricing Model

    OpenAIRE

    Hammad, Siddiqi

    2015-01-01

    An anchoring adjusted Capital Asset Pricing Model (ACAPM) is developed in which the payoff volatilities of well-established stocks are used as starting points that are adjusted to form volatility judgments about other stocks. Anchoring heuristic implies that such adjustments are typically insufficient. ACAPM converges to CAPM with correct adjustment, so CAPM is a special case of ACAPM. The model provides a unified explanation for the size, value, and momentum effects in the stock market. A ke...

  12. Improving performance by anchoring movement and "nerves".

    Science.gov (United States)

    Iso-Ahola, Seppo E; Dotson, Charles O; Jagodinsky, Adam E; Clark, Lily C; Smallwood, Lorraine L; Wilburn, Christopher; Weimar, Wendi H; Miller, Matthew W

    2016-10-01

    Golf's governing bodies' recent decision to ban all putting styles "anchoring one end of the club against the body" bridges an important practical problem with psychological theory. We report the first experiment testing whether anchoring provides technical and/or psychological advantage in competitive performance. Many "greats" of professional golf from Arnold Palmer and Jack Nicklaus to Tiger Woods have argued against anchoring, believing that it takes "nerves" out of competitive performance and therefore artificially levels the playing field. To shed more light on the issue, we tested participants' performance with anchored and unanchored putters under low and high pressure when controlling for the putter length. We found no statistically significant evidence for a technical advantage due to anchoring but a clear psychological advantage: participants who anchored their putters significantly outperformed unanchored counterparts under high, but not low, pressure. Results provide tentative evidence for the ban's justification from a competitive standpoint. However, before any definite conclusions can be made, more research is needed when using high-level golfers. PMID:27459587

  13. 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…

  14. 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.

  15. 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.

  16. 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

  17. 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

  18. Monitoring ground anchor using non-destructive ground anchor integrity test (NDT-GRANIT)

    Energy Technology Data Exchange (ETDEWEB)

    Robbany, Z., E-mail: zdrobbany@gmail.com; Handayani, G., E-mail: gunawanhandayani@gmail.com [Earth Physics and Complex System Laboratory, Department of Physics, Institut Teknologi Bandung, Ganesha 10 Bandung, Indonesia 40132 (Indonesia)

    2015-09-30

    Monitoring at ground anchor commonly uses a pull out test method, therefor we developing a non-destructive ground anchor integrity testing (NDT-GRANIT). NDT-GRANIT using the principle of seismic waves that have been modified into form of sweep signal, the signal will be demodulated, filtered, and Fourier transformation (inverse discrete Fourier transform) so the data can be interpreted reflected wave from the ground anchor. The method was applied to determine whether the ground anchor still gripped in the subsurface by looking the attenuation of the wave generated sources. From the result we can see that ground anchor does not grip. To validate the results of the comparison method of measurement used pile integrity test.

  19. Genetics Home Reference: Wilson disease

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    ... block ( amino acid ) methionine or the amino acid valine. Among people who have mutations in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is ...

  20. Genetics Home Reference: osteoglophonic dysplasia

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    ... and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder. Related Information What does it mean if a ...

  1. Genetics Home Reference: Parkinson disease

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    ... links) LRRK2-Related Parkinson Disease Parkin Type of Early-Onset Parkinson Disease Parkinson Disease Overview PINK1 Type of Young- ... Parkinson disease 5 Parkinson disease 6, autosomal recessive early-onset Parkinson disease 7 Parkinson disease 8, autosomal dominant Parkinson ...

  2. Genetics Home Reference: Cowden syndrome

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    ... Sources for This Page Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden ... Epub 2008 Sep 10. Review. Citation on PubMed Eng C. PTEN: one gene, many syndromes. Hum Mutat. ...

  3. Genetics Home Reference: nonsyndromic paraganglioma

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    ... Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, ... H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ- ...

  4. Genetics Home Reference: Carpenter syndrome

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    ... two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect ... is often required for an accurate diagnosis. Related Information What does it mean if a disorder seems ...

  5. Genetics Home Reference: CHARGE syndrome

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    ... right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. Related Information What does it mean if a disorder seems ...

  6. Genetics Home Reference: Poland syndrome

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    ... not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become ... of Poland syndrome or a different disorder. Related Information What does it mean if a disorder seems ...

  7. Genetics Home Reference: craniofacial microsomia

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    ... right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides ... to have Goldenhar syndrome or oculoauricular dysplasia. Related Information What does it mean if a disorder seems ...

  8. Genetics Home Reference: frontonasal dysplasia

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    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Palate Foundation FACES: The National Craniofacial Association National Organization for Rare Disorders ... PubMed OMIM (3 links) ...

  9. Genetics Home Reference: mycosis fungoides

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    ... Co-Pay Assistance Program Lymphoma Research Foundation National Organization for Rare Disorders ... JJ, Clark RA, Watanabe R, Kupper TS. Sezary syndrome and mycosis fungoides arise from distinct T-cell subsets: a biologic rationale for their distinct clinical ...

  10. Genetics Home Reference: Fabry disease

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    ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs & Allied Diseases Association, ... Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry ...

  11. Genetics Home Reference: prostate cancer

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    ... 2012 Dec;110(11 Pt C):E809-18. doi: 10.1111/j.1464-410X.2012.11450.x. ... Eur Urol. 2013 Oct;64(4):567-76. doi: 10.1016/j.eururo.2013.05.029. Epub ... Oncol. 2014 Jan;32(1):53.e15-22. doi: 10.1016/j.urolonc.2013.08.025. Epub ...

  12. Genetics Home Reference: hidradenitis suppurativa

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    ... Apr;60(4):539-61; quiz 562-3. doi: 10.1016/j.jaad.2008.11.911. Review. ... Acad Dermatol. 2009 Jul;61(1):51-7. doi: 10.1016/j.jaad.2009.02.013. Epub ... Dermatol Clin. 2010 Oct;28(4):779-93. doi: 10.1016/j.det.2010.07.003. Review. ...

  13. Genetics Home Reference: Nager syndrome

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    ... The pharyngeal arches are five paired structures that form on each side of the head and neck ... cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why ... K, Hukki J, Arte S, Hurmerinta K. Craniofacial structures and dental development in three patients with Nager syndrome. J ...

  14. Genetics Home Reference: Kallmann syndrome

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    ... PROK2 genes also play a role in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones ...

  15. Genetics Home Reference: spina bifida

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    ... close completely during the first few weeks of embryonic development. As a result, when the spine forms, the ... called vitamin B9). A shortage (deficiency) of this vitamin is an established ... involved in the development of the neural tube have also been studied ...

  16. Genetics Home Reference: Barth syndrome

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    ... becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers ... of the muscle and impairs its ability to pump blood. In people with Barth syndrome , the heart problems ...

  17. Genetics Home Reference: trichohepatoenteric syndrome

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    ... that occurs multiple times per day. Even with nutritional support through intravenous feedings (parenteral nutrition), many of these ... Testing Registry: Trichohepatoenteric syndrome 2 MedlinePlus Health Topic: Nutritional Support These resources from MedlinePlus offer information about the ...

  18. Genetics Home Reference: Asperger syndrome

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    ... This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might ...

  19. Genetics Home Reference: Danon disease

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    ... found in the membrane of cellular structures called lysosomes . Lysosomes are compartments in the cell that digest and ... role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 ...

  20. 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, ...

  1. Genetics Home Reference: Williams syndrome

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    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome . Loss ...

  2. Genetics Home Reference: trisomy 18

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    ... during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals ... random events during the formation of eggs and sperm. An error in cell division called nondisjunction results ...

  3. Genetics Home Reference: trisomy 13

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    ... during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people ... random events during the formation of eggs and sperm in healthy parents. An error in cell division ...

  4. Genetics Home Reference: Knobloch syndrome

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    ... Knobloch syndrome is a skull defect called an occipital encephalocele , which is a sac-like protrusion of ... the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with ...

  5. Genetics Home Reference: Menkes syndrome

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    ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa ) ... bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. ...

  6. Genetics Home Reference: cutis laxa

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    ... linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is ... body . In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium ...

  7. Genetics Home Reference: prion disease

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    ... as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow disease." Another example of an acquired human prion disease ... forms of prion disease , including kuru and variant Creutzfeldt-Jakob disease, are not inherited. Related Information What does it ...

  8. Genetics Home Reference: Timothy syndrome

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    ... and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of ... Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 ...

  9. Genetics Home Reference: surfactant dysfunction

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    ... and decreased surfactant function. The loss of functional surfactant raises surface tension in the alveoli, causing severe breathing problems. The combination of SP-B and SP-C dysfunction may explain why the signs and symptoms of SP-B deficiency ... dysfunction sometimes called SP-C dysfunction. These mutations ...

  10. Genetics Home Reference: tetrahydrobiopterin deficiency

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    ... condition also alters the levels of chemicals called neurotransmitters , which transmit signals between nerve cells in the ... It is also involved in the production of neurotransmitters . If one of the enzymes fails to function ...

  11. Genetics Home Reference: Moebius syndrome

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    ... may also be risk factors for Moebius syndrome . Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII . These nerves, which emerge from ...

  12. Genetics Home Reference: renal hypouricemia

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    ... 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 ...

  13. Genetics Home Reference: Christianson syndrome

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    ... L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am ...

  14. Genetics Home Reference: bladder cancer

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    ... ND, Rubenstein JN, Eggener SE, Kozlowski JM. The p53 tumor suppressor gene and nuclear protein: basic science review and relevance in the management of bladder cancer. J Urol. 2003 Apr;169(4):1219-28. ...

  15. Genetics Home Reference: Blau syndrome

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    ... by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate ...

  16. Genetics Home Reference: prolidase deficiency

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    ... on PubMed Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Inborn errors of proline metabolism. J Nutr. 2008 Oct;138(10):2016S-2020S. Citation on PubMed Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, ...

  17. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

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    ... significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of ... OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia ( ...

  18. Genetics Home Reference: ankylosing spondylitis

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    ... A variation of the HLA-B gene called HLA-B27 increases the risk of developing ankylosing spondylitis . Although many people with ankylosing spondylitis have the HLA-B27 variation, most people with this version of the ...

  19. 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 ...

  20. Genetics Home Reference: Kniest dysplasia

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    ... for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...

  1. Genetics Home Reference: Alport syndrome

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    ... for making one component of a protein called type IV collagen. This protein plays an important role in the ... in these genes result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly ...

  2. Genetics Home Reference: Czech dysplasia

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    ... for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...

  3. 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 ... protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other ...

  4. Genetics Home Reference: oculocutaneous albinism

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    ... make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems ... oculocutaneous albinism type 2. This gene helps regulate melanin production ... however, they typically have red hair instead of the usual yellow, blond, or light ...

  5. Genetics Home Reference: Tietz syndrome

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    ... cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found ... the inner ear leads to hearing loss. Decreased melanin production ... light skin and hair color and the retinal pigment epithelium changes that ...

  6. Genetics Home Reference: antiphospholipid syndrome

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    ... Levin N, Andrade CA, Andreoli L, Chighizola CB, Porter TF, Salmon J, Silver RM, Tincani A, Branch DW. 14th International Congress on Antiphospholipid Antibodies Task Force report on obstetric antiphospholipid syndrome. Autoimmun Rev. 2014 ...

  7. Genetics Home Reference: Noonan syndrome

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    ... article on PubMed Central Rohrer T. Noonan syndrome: introduction and basic clinical features. Horm Res. 2009 Dec; ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  8. Genetics Home Reference: familial hyperaldosteronism

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    ... glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms ...

  9. Genetics Home Reference: lamellar ichthyosis

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    ... Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu ... Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu ...

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    ... that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, ... that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one ...

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    ... my area? Other Names for This Condition colitis gravis idiopathic proctocolitis inflammatory bowel disease, ulcerative colitis type ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

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  13. Genetics Home Reference: celiac disease

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    ... chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been ... North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide University of Chicago Celiac ...

  14. Genetics Home Reference: Feingold syndrome

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    ... in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is ... to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of ...

  15. Genetics Home Reference: CHOPS syndrome

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    ... complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called ... reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder ...

  16. Genetics Home Reference: spondylocostal dysostosis

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    ... close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in ... the Notch signaling pathway, which is important in embryonic development. One of the functions of Notch signaling is ...

  17. Genetics Home Reference: lung cancer

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    ... on PubMed (1 link) PubMed OMIM (1 link) LUNG CANCER Sources for This Page Berger AH, Imielinski M, Duke F, Wala J, Kaplan N, Shi GX, Andres DA, Meyerson M. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014 Aug 28;33(35):4418- ...

  18. Genetics Home Reference: Marfan syndrome

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    ... Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels ... Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey ...

  19. Genetics Home Reference: allergic asthma

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    ... another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of ... the Symptoms of an Allergy? Centers for Disease Control and Prevention Disease InfoSearch: Asthma Johns Hopkins Medicine: ...

  20. Genetics Home Reference: Mabry syndrome

    Science.gov (United States)

    ... 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Citation on PubMed ... 2010 Mar-Apr;53(2):85-8. doi: 10.1016/j.ejmg.2010.01.002. Epub 2010 Jan ... 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun ...

  1. Genetics Home Reference: Perrault syndrome

    Science.gov (United States)

    ... 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar ... 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar ... 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul ...

  2. Genetics Home Reference: familial erythrocytosis

    Science.gov (United States)

    ... instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of ...

  3. 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 ...

  4. Genetics Home Reference: pseudoxanthoma elasticum

    Science.gov (United States)

    ... Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. Review. ... inhibitor of matrix calcification in Pseudoxanthoma elasticum. J Dermatol Sci. 2014 Aug;75(2):109-20. doi: ...

  5. Genetics Home Reference: Schindler disease

    Science.gov (United States)

    ... N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. Citation ... in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub ...

  6. Genetics Home Reference: epidermolytic hyperkeratosis

    Science.gov (United States)

    ... Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994 Aug;130(8):1026-35. Citation on ... keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Jan;102(1):17-23. Citation on ...

  7. Genetics Home Reference: familial cylindromatosis

    Science.gov (United States)

    ... CYLD is essential for deubiquitinase activity. J Invest Dermatol. 2008 Mar;128(3):587-93. Epub 2007 ... trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. 2005 May;124(5):919-20. Citation on ...

  8. Genetics Home Reference: Cole disease

    Science.gov (United States)

    ... disease: guttate hypopigmentation and punctate palmoplantar keratoderma. Arch Dermatol. 2009 Apr;145(4):495-7. doi: 10. ... punctate keratosis of the palms and soles. Pediatr Dermatol. 2002 Jul-Aug;19(4):302-6. Citation ...

  9. Genetics Home Reference: Vohwinkel syndrome

    Science.gov (United States)

    ... M. Inherited disorders of corneocyte proteins. Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. ... family and review of the literature. Br J Dermatol. 2006 Jan;154(1):167-71. Review. Citation ...

  10. Genetics Home Reference: harlequin ichthyosis

    Science.gov (United States)

    ... harlequin ichthyosis with moderate clinical severity. J Invest Dermatol. 2006 Jul;126(7):1518-23. Epub 2006 ... of severe congenital ichthyosis of the neonate. J Dermatol Sci. 1999 Sep;21(2):96-104. Review. ...

  11. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium, Cardon L, Mathew CG. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to ...

  12. Genetics Home Reference: Laron syndrome

    Science.gov (United States)

    ... in my area? Other Names for This Condition GH-R deficiency growth hormone insensitivity syndrome growth hormone receptor defect growth hormone ... Laron-type short stature pituitary dwarfism II primary GH resistance primary growth hormone resistance severe GH insensitivity Related Information How are ...

  13. Genetics Home Reference: epidermal nevus

    Science.gov (United States)

    ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ...

  14. Genetics Home Reference: malignant hyperthermia

    Science.gov (United States)

    ... on PubMed GeneReview: Malignant Hyperthermia Susceptibility Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA. ... 27(10):977-89. Review. Citation on PubMed Rosenberg H, Davis M, James D, Pollock N, Stowell ...

  15. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... National Cancer Institute: Pancreatic Cancer National Institute of Diabetes and Digestive and Kidney Diseases Educational Resources (9 links) Boston Children's Hospital Cleveland Clinic: Cancer of the Pancreas Cleveland Clinic: Pancreatitis Disease InfoSearch: ...

  16. Genetics Home Reference: Proteus syndrome

    Science.gov (United States)

    ... AKT1 gene helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a ... allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the ...

  17. Genetics Home Reference: primary myelofibrosis

    Science.gov (United States)

    ... making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a ... JAK/STAT pathway, these two proteins promote the proliferation of blood cells, particularly a type of blood cell known as ...

  18. Genetics Home Reference: desmoid tumor

    Science.gov (United States)

    ... signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to ... activity (expression) of particular genes, which helps promote cell proliferation and differentiation. CTNNB1 gene mutations lead to an ...

  19. Genetics Home Reference: Down syndrome

    Science.gov (United States)

    ... sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome ... a random event during cell division early in fetal development. As a result, some of the body's cells ...

  20. Genetics Home Reference: aromatase deficiency

    Science.gov (United States)

    ... regulating bone growth and blood sugar levels. During fetal development, aromatase converts androgens to estrogens in the placenta, ... link between the mother's blood supply and the fetus. This conversion in the ... sexual development in female fetuses. After birth, the conversion of ...

  1. Genetics Home Reference: cerebrotendinous xanthomatosis

    Science.gov (United States)

    ... down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27- ... WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid Res. 2007 ...

  2. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision ... can be caused by mutations in several different genes. Mutations in at least six genes can cause ...

  3. Genetics Home Reference: episodic ataxia

    Science.gov (United States)

    ... mapping for a large pedigree with episodic ataxia. Neurology. 2005 Jul 12;65(1):156-8. Citation ... RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22. Citation ...

  4. Genetics Home Reference: multiple sclerosis

    Science.gov (United States)

    ... factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The HLA-DRB1 gene belongs ...

  5. Genetics Home Reference: Myhre syndrome

    Science.gov (United States)

    ... of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth ...

  6. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in ...

  7. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in ... involves both motor tics, which are uncontrolled body movements, and vocal or ... blinking, shoulder shrugging, or nose twitching, are usually the first ...

  8. Genetics Home Reference: vibratory urticaria

    Science.gov (United States)

    ... Torsten]. Citation on PubMed Aloyouny A, Stoopler ET. Vibrational angioedema: considerations for oral health care providers. Spec ... Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 ...

  9. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... women typically have two X chromosomes (46,XX karyotype), while boys and men usually have one X chromosome and one Y chromosome ( 46,XY karyotype ). In Swyer syndrome , individuals with one X chromosome ...

  10. Genetics Home Reference: dyskeratosis congenita

    Science.gov (United States)

    ... from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the ... beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow. Breakage and instability of ... gene is located on the X chromosome , which is one of the two sex chromosomes. In males (who have only one X ...

  11. Genetics Home Reference: Hartnup disease

    Science.gov (United States)

    ... which can include skin rashes; difficulty coordinating movements ( cerebellar ataxia ); and psychiatric symptoms, such as depression or psychosis. ... signs and symptoms of this condition including rashes, cerebellar ataxia , and psychiatric symptoms. Researchers believe that many of ...

  12. Genetics Home Reference: Meckel syndrome

    Science.gov (United States)

    ... eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure. Related Information What does ...

  13. Genetics Home Reference: warfarin resistance

    Science.gov (United States)

    ... on PubMed or Free article on PubMed Central Oldenburg J, Müller CR, Rost S, Watzka M, Bevans CG. ... Scharrer I, Tuddenham EG, Müller CR, Strom TM, Oldenburg J. Mutations in VKORC1 cause warfarin resistance and ...

  14. Polymer's anchoring behavior in liquid crystal cells

    Science.gov (United States)

    Cui, Yue

    The current dissertation mainly discusses about the polymers anchoring behavior in liquid crystal cells in two aspects: surface interaction and bulk interaction. The goal of the research is to understand the fundamental physics of anchoring strength and apply the knowledge to liquid crystal display devices. Researchers proposed two main contributors to the surface anchoring strength: the micro grooves generated by external force and the polymer chain's alignment. Both of them has experimental proofs. In the current study, explorations were made to understand the mechanisms of surface anchoring strength and easy axis of surface liquid crystal provided by rubbed polymer alignment layer. The work includes not only the variation of the alignment layer itself such as thickness(Chapter 3) and polymer side chain (Chapter 5), but also the variation of external conditions such as temperature (Chapter 4) and rubbing condition (Chapter 6). To determine the polar and azimuthal anchoring strengths, Rapini-Papoular's expression was applied. However, it was discovered that higher order terms may be required in order to fit the experimental result or theoretically predict unique anchoring behaviors (Chapter 2, Chapter 6). SEM and AFM technologies were introduced to gather the actual structures of polymer alignment layer and extrapolate the alignment of liquid crystal in a micro scale. The result shows that the anchoring strength can be adjusted by the layer thickness, side chain structure, while the easy axis direction can be adjusted by a second rubbing direction. In addition, different anchoring conditions combined with liquid crystal's elastic energy can generate quite different forms of liquid crystals (Chapter 7). In the study of bulk alignment, the main contrition from the current dissertation is applying the understanding of anchoring behavior to optimizing actual switchable devices. Conventional PDLC performance can be tuned with the knowledge of the polymer and the liquid

  15. Determination of azimuthal anchoring strength in twisted nematic liquid crystal cells using heterodyne polarimeter.

    Science.gov (United States)

    Yu, Tsung-Chih; Lo, Yu-Lung; Huang, Rei-Rong

    2010-09-27

    Two external-field-free methods are presented for measuring the azimuthal anchoring strength in twisted nematic liquid crystal (TNLC) cells. For asymmetrical TNLC samples, the twist angle is derived from the phase of the detected signal in a phase-sensitive heterodyne polarimeter and is then used to calculate the weak anchoring strength directly. The measurement resolution which is found to be about 0.01 μJ/m(2) makes the present method sensitive enough for the LC-based bio-sensing application. Using the proposed method, the weak azimuthal anchoring strength of a composite liquid crystal mixture (40% LCT-061153 + 60% MJO-42761) in contact with a plasma-alignment layer is found to be 7.19 μJ/m(2). For symmetrical TNLC samples, the liquid crystals are injected into a wedge cell, and the two-dimensional distributions of the twist angle and cell gap are extracted from the detected phase distribution using a genetic algorithm (GA). The azimuthal anchoring strength is then obtained by applying a fitting technique to the twist angle vs. cell gap curve. Utilizing the proposed approach, it is shown that the strong anchoring strength between a rubbed polyimide (PI) alignment layer and E7 liquid crystal is around 160 μJ/m(2) while that between a rubbed PI alignment layer and MLC-7023 liquid crystal is approximately 32 μJ/m(2). PMID:20941014

  16. 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.

  17. 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

  18. Fibre-Reinforced Adhesive for Structure Anchoring

    Science.gov (United States)

    Barnat, J.; Bajer, M.

    2015-11-01

    The topic of this paper is the glue-concrete interface of bonded anchors loaded by tension force. The paper is closely focused on bond strength experiments using high strength concrete up to class C50/60 or higher together with pure epoxy resin and fibre-reinforced resin. The goal of this research is to find the limits of the effective use of such glue types in high performance concrete, and also to verify the most commonly used design methods for bonded anchors. The presented research includes experimental analysis of the glue-concrete interface and the influence of its parameters on anchor behaviour. The presented analysis shows some problems of the 'separated failure modes' approach and also presents experimentally verified bond strength values obtained for the currently most widespread glue types. Results of fibre reinforced epoxy resin are also presented in this paper.

  19. 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.

  20. 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.

  1. ANCHORING EFFECT ANALYSIS OF TENSIONED BOLTS

    Institute of Scientific and Technical Information of China (English)

    夏建中

    1997-01-01

    The paper analyses quantitatively the anchoring effect of tensioned bolts on surrounding rock strength, and defines two concepts: one is the surrounding rock strength increased amount △τ13 and the other is the strength influence factor k. The anchoring effect of tensioned bolts is considered to increase a strength increased amount △τ13 where △τ13 is the product k and tensioned load p, i. e. △τ13= kp, where k is a function of two variables x and y. The distributive properties both △τ13 and k are also discussed in the paper, obtaining some useful results for designing bolting support parameters.

  2. 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 prefere......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...

  3. 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.

  4. Monogenean anchor morphometry: systematic value, phylogenetic signal, and evolution.

    Science.gov (United States)

    Khang, Tsung Fei; Soo, Oi Yoon Michelle; Tan, Wooi Boon; Lim, Lee Hong Susan

    2016-01-01

    Background. Anchors are one of the important attachment appendages for monogenean parasites. Common descent and evolutionary processes have left their mark on anchor morphometry, in the form of patterns of shape and size variation useful for systematic and evolutionary studies. When combined with morphological and molecular data, analysis of anchor morphometry can potentially answer a wide range of biological questions. Materials and Methods. We used data from anchor morphometry, body size and morphology of 13 Ligophorus (Monogenea: Ancyrocephalidae) species infecting two marine mugilid (Teleostei: Mugilidae) fish hosts: Moolgarda buchanani (Bleeker) and Liza subviridis (Valenciennes) from Malaysia. Anchor shape and size data (n = 530) were generated using methods of geometric morphometrics. We used 28S rRNA, 18S rRNA, and ITS1 sequence data to infer a maximum likelihood phylogeny. We discriminated species using principal component and cluster analysis of shape data. Adams's K mult was used to detect phylogenetic signal in anchor shape. Phylogeny-correlated size and shape changes were investigated using continuous character mapping and directional statistics, respectively. We assessed morphological constraints in anchor morphometry using phylogenetic regression of anchor shape against body size and anchor size. Anchor morphological integration was studied using partial least squares method. The association between copulatory organ morphology and anchor shape and size in phylomorphospace was used to test the Rohde-Hobbs hypothesis. We created monogeneaGM, a new R package that integrates analyses of monogenean anchor geometric morphometric data with morphological and phylogenetic data. Results. We discriminated 12 of the 13 Ligophorus species using anchor shape data. Significant phylogenetic signal was detected in anchor shape. Thus, we discovered new morphological characters based on anchor shaft shape, the length between the inner root point and the outer root

  5. 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,…

  6. International Lunar Network (ILN) Anchor Nodes

    Science.gov (United States)

    Cohen, Barbara A.

    2009-01-01

    This slide presentation reviews the United States' contribution to the International Lunar Network (ILN) project, the Anchor Nodes project. The ILN is an initiative of 9 national space agencies to establish a set of robotic geophysical monitoring stations on the surface of the Moon. The project is aimed at furthering the understanding of the lunar composition, and interior structure.

  7. 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.

  8. 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...

  9. 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.

  10. 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...

  11. 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…

  12. Stone anchors from the Okhamandal region, Gujarat Coast, India

    Digital Repository Service at National Institute of Oceanography (India)

    Sundaresh; Gaur, A.S.; Gudigar, P.; Tripati, S.; Vora, K.H.; Bandodkar, S.N.

    During marine archaeological explorations since 1983, off Dwarka, a large number of stone anchors were discovered and dated to 1400 BC, comparing with anchors found in Mediterranean waters. In recent archaeological explorations off Dwarka, Bet...

  13. Susceptibility to anchoring effects: How openness-to-experience influences responses to anchoring cues

    OpenAIRE

    Todd McElroy; Keith Dowd

    2007-01-01

    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 p...

  14. Research on Slippage Mechanism of Single Anchoring Device in Mine Small Diameter Pre-Stress Anchor%矿用小孔径预应力锚索单孔锚具滑脱机理研究

    Institute of Scientific and Technical Information of China (English)

    褚晓威; 鞠文君; 吴拥政

    2014-01-01

    According to the phenomena of the anchoring slippage and other unreliable anchoring occurred in the anchoring device of the an-chor in underground mine,in order to get the slippage causes of the anchoring device and to improve the anchoring reliability of the an-chor,the dynamics analysis,lab analysis method and other methods were applied to get the main factors of the anchor device slippage and the major materials of the anchors applied to the coal mine were preliminarily investigated.The analysis results showed that hardness differ-ence between the anchor and shim irrational,diameter error of the anchor too high,strength and hardness of the anchor too high,critical distance irrational and anchoring device quality poor would be main factors to influence the reliability of the anchoring.Therefore,an effec-tive reference index to reduce the slippage probability and to improve the reliability of the anchor should have hardness difference between the anchor and shim over HRC10,the anchor diameter error should not be over ±0. 400. 20 mm,the actual strength of the anchor should be lower than the tensile strength and aspace limited distance should be a shim exposed distance plus a retuned distance of the anchoring device.%针对煤矿井下锚索的锚具出现退锚等锚固不可靠的现象,为得到锚具退锚原因,提高锚索锚固可靠性,采用力学分析、试验分析等方法得出锚具退锚的主要因素,并初步调研了国内煤矿锚索的主要材料。分析结果表明锚索与夹片硬度差不合理、锚索直径误差偏大、锚索强度和硬度偏大、限位距离不合理和锚具质量差是影响锚固可靠性的主要因素。由此得出,降低退锚概率、提高锚索的可靠性的有效参考指标为锚索夹片硬度差大于HRC10,锚索直径误差不超过±0.400.20 mm,锚索实际强度低于其抗拉强度和限位距离等于夹片外露距离与锚具回缩距离的和。

  15. 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

  16. Career Paths, Images and Anchors: A Study with Brazilian Professionals

    Science.gov (United States)

    Kilimnik, Zelia Miranda; de Oliveira, Luiz Claudio Vieira; Sant'anna, Anderson De Souza; Barros, Delba Teixeira Rodrigues

    2011-01-01

    This article analyses career anchors changes associated to images and professionals trajectories. Its main question: Do anchors careers change through time? We conducted twelve interviews involving professionals from the Administration Area, applying Schein's Career Anchors Inventory (1993). We did the same two years later. In both of them, the…

  17. 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…

  18. Ligation-anchored PCR unveils immune repertoire of TCR-beta from whole blood

    OpenAIRE

    Gao, Fan; Kai WANG

    2015-01-01

    Background As one of the genetic mechanisms for adaptive immunity, V(D)J recombination generates an enormous repertoire of T-cell receptors (TCRs). With the development of high-throughput sequencing techniques, systematic exploration of V(D)J recombination becomes possible. Multiplex PCR has been previously developed to assay immune repertoire; however, the use of primer pools leads to inherent biases in target amplification. In our study, we developed a “single-primer" ligation-anchored PCR ...

  19. A STUDY ON LOAD CAPACITY OF HORIZONTAL AND INCLINED PLATE ANCHORS IN SANDY SOILS

    OpenAIRE

    BALESHWAR SINGH; BIRJUKUMAR MISTRI

    2011-01-01

    Foundations of structures which are subjected to uplift loading require anchoring systems to resist pullout loads. Such anchors can be broadly classified as gravity anchors, pile anchors and plate anchors. Plate anchors can be circular, square or strip in shape. The loading applied on plate anchors can be vertical, inclined or horizontal depending on the anchor orientation. In this study, various experimental, theoretical and numerical approaches for estimation of load capacity of horizontal ...

  20. Geodesic defect anchoring on nematic shells.

    Science.gov (United States)

    Mirantsev, Leonid V; Sonnet, André M; Virga, Epifanio G

    2012-08-01

    Nematic shells are colloidal particles coated with nematic liquid crystal molecules, which may freely glide and rotate on the colloid's surface while keeping their long axis on the local tangent plane. Molecular dynamics simulations on a nanoscopic spherical shell indicate that under appropriate adhesion conditions for the molecules on the equator, the equilibrium nematic texture exhibits at each pole a pair of +1/2 defects so close to one another to be treated as one +1 defect. Spirals connect the polar defects, though the continuum limit of the interaction potential would not feature any elastic anisotropy. A molecular averaging justifies an anchoring defect energy that feels the geodesics emanating from the defect. All our observations are explained by such a geodesic anchoring, which vanishes on flat manifolds. PMID:23005713

  1. 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.

  2. 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.

  3. Recent Study of Drag Embedment Plate Anchors in China

    Institute of Scientific and Technical Information of China (English)

    Haixiao Liu

    2012-01-01

    Experimental and theoretical studies of drag embedment plate anchors recently carried out in Tianjin University are summarized in this research paper,which involve a series of important topics relevant to the study of drag anchors.The techniques for measuring the trajectory and movement direction of drag anchors in soils,the techniques for measuring the moving embedment point and reverse catenary shape of the embedded drag line,the penetration mechanism and kinematic behavior of drag anchors,the ultimate embedment depth of drag anchors,the movement direction of the anchor with an arbitrary fluke section,the reverse catenary properties of the embedded drag line,the interactional properties between drag anchor and installation line,the kinematic model of drag anchors in seabed soils,and the analytical method for predicting the anchor trajectory in soils will all be examined.The present work remarkably reduces the uncertainties in design and analysis of drag embedment plate anchors,and is beneficial to improving the application of this new type of drag anchor in offshore engineering.

  4. Vertical and lateral capacity of screw anchor piles

    Energy Technology Data Exchange (ETDEWEB)

    Law, D.J.; Tweedie, R.W.; Harris, M.C. [Thurber Engineering Ltd., Edmonton, AB (Canada); Niedermaier, J. [Alberta Anchor Inc., Calgary, AB (Canada)

    1996-09-01

    Test programs were conducted to investigate the deformation behaviour of screw anchors during loading. Screw anchors are used in foundation applications for transmission towers and retaining walls, as well as for foundation elements for buildings, pipe racks, storage tanks and equipment. Screw anchor piles were installed at a site near Fort Saskatchewan, at a site underlain by typical stiff glacial soils. Single and multi-helix screw anchors with helix diameters up to 381 mm were tested in compression and tension. Lateral load tests were conducted on screw anchors with shaft diameters ranging from 114 mm to 273 mm. Results from the study showed that vertical and horizontal loads can be carried by screw anchor piles that are comparable with those achieved with driven steel piles, but screw anchors are easier to install, and can be more cost effective in some cases. 4 refs., 3 tabs., 4 figs.

  5. 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.

  6. Anchoring in a novel bimanual coordination pattern.

    Science.gov (United States)

    Maslovat, Dana; Lam, Melanie Y; Brunke, Kirstin M; Chua, Romeo; Franks, Ian M

    2009-02-01

    Anchoring in cyclical movements has been defined as regions of reduced spatial or temporal variability [Beek, P. J. (1989). Juggling dynamics. PhD thesis. Amsterdam: Free University Press] that are typically found at movement reversal points. For in-phase and anti-phase movements, synchronizing reversal points with a metronome pulse has resulted in decreased anchor point variability and increased pattern stability [Byblow, W. D., Carson, R. G., & Goodman, D. (1994). Expressions of asymmetries and anchoring in bimanual coordination. Human Movement Science, 13, 3-28; Fink, P. W., Foo, P., Jirsa, V. K., & Kelso, J. A. S. (2000). Local and global stabilization of coordination by sensory information. Experimental Brain Research, 134, 9-20]. The present experiment examined anchoring during acquisition, retention, and transfer of a 90 degrees phase-offset continuous bimanual coordination pattern (whereby the right limb lags the left limb by one quarter cycle), involving horizontal flexion about the elbow. Three metronome synchronization strategies were imposed: participants either synchronized maximal flexion of the right arm (i.e., single metronome), both flexion and extension of the right arm (i.e., double metronome within-limb), or flexion of each arm (i.e., double metronome between-limb) to an auditory metronome. In contrast to simpler in-phase and anti-phase movements, synchronization of additional reversal points to the metronome did not reduce reversal point variability or increase pattern stability. Furthermore, practicing under different metronome synchronization strategies did not appear to have a significant effect on the rate of acquisition of the pattern. PMID:18842313

  7. Anchoring Heuristic and the Equity Premium Puzzle

    OpenAIRE

    Siddiqi, Hammad

    2015-01-01

    What happens when the anchoring and adjustment heuristic of Tversky and Kahneman (1974) is incorporated in the standard consumption-based capital asset pricing model (CCAPM)? The surprising finding is that it not only resolves the high equity-premium and low risk-free rate puzzles with a low risk-aversion coefficient, but also provides a unified framework for understanding countercyclical equity-premium, excess volatility, size, value, and momentum effects, and abnormal returns and volatiliti...

  8. Anchor Toolkit - a secure mobile agent system

    OpenAIRE

    Mudumbai, Srilekha S.; Johnston, William; Essiari, Abdelilah

    2008-01-01

    Mobile agent technology facilitates intelligent operation in software systems with less human interaction. Major challenge to deployment of mobile agents include secure transmission of agents and preventing unauthorized access to resources between interacting systems, as either hosts, or agents, or both can act maliciously. The Anchor toolkit, designed by LBNL, handles the transmission and secure management of mobile agents in a heterogeneous distributed computing environment. It provide...

  9. 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.

  10. 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.

  11. 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

  12. The relationship between perceived own health state and health assessments of anchoring vignettes

    OpenAIRE

    Hinz, Andreas; Häuser, Winfried; Glaesmer, Heide; Brähler, Elmar

    2016-01-01

    Self-reported health depends on the internal frame of reference and on response styles. One way of studying this dependency is using anchoring vignettes. Response shift effects are assumed to induce a negative correlation between self-reported health and the health assessments attributed to the vignettes. Method: A representative sample of the German adult population (N = 2,409) was selected. Participants were asked to rate their health state and the health states of two rather complex vignet...

  13. Radiocarbon dates of the medieval period stone anchors from Dabhol, west coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Gaur, A.S.; Sundaresh; Tripati, S.; Vora, K.H.

    and Gallivats being of deep draught could not get up above the junction of Jogburi river with the sacred Washisti, but lay at anchor in deep water in the land locked basin at Dabhol’. This reference indicates that Dabhol was an active maritime trade centre... Dabhol jetty. radiocarbon dates of the same were ob- tained from the Birbal Sahni Institute of Palaeobotany, Lucknow. Explorations Onshore and inter-tidal zone explorations were undertaken in and around Dabhol jetty. Towards the east...

  14. 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.

  15. 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

  16. 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.

  17. Analysis of Glenoid Inter-anchor Distance with an All-Suture Anchor System

    Science.gov (United States)

    Kramer, Jonathan; Robinson, Sean; Dutton, Pascual; Dickinson, Ephraim; Rodriguez, John Paul; Camisa, William; Leasure, Jeremi M.; Montgomery, William H.

    2016-01-01

    Objectives: Arthroscopic shoulder stabilization using suture anchors are commonly used techniques. More recently developed all-suture systems employ smaller diameter anchors, which increase repair contact area and allow greater placement density on narrow surfaces such as the glenoid. Our goal is investigate the strength characteristics of various inter-anchor distances in a human glenoid model. Methods: Twelve fresh-frozen human cadaveric glenoids were potted after the labrum was excised. The glenoids were then implanted with 1.4 mm all-suture anchors (Juggerknot, Biomet, Warsaw, IN) at varying inter-anchor distances. Anchors were implanted adjacent to one another or at 2 mm, 3 mm, or 5 mm distances using a template with pre-drilled holes. The glenoids were then underwent single cycle pullout testing using a test frame (Instron 8521, Instron Inc., Norwood, MA). A 5 N preload was applied to the construct and the actuator was driven away from the shoulder at a rate of 12.5mm/s as seen in Figure 1. Force and displacement were collected from the test frame actuator at a rate of 500 Hz. The primary outcomes were failure strength and stiffness. Stiffness was calculated from the initial linear region of the force displacement curve. Failure strength was defined as the first local maximum inflection point in the force displacement curve. Results: During load to fail testing, all but three of the specimens had both anchors pull out of the glenoid. The other mode of failure included one or both of the sutures failing. Stiffness was 13.52 ± 3.8, 17.97 ± 5.02, 17.59 ± 4.65 and 18.95 ± 4.67 N/mm for the adjacent, 2 mm, 3 mm and 5 mm treatment groups as shown Table 1. The adjacent group had a significantly lower stiffness compared to the other treatment groups. Failure strength was 48.68 ± 20.64, 76.16 ± 23.78, 73.19 ± 35.83 and 87.04 ± 34.67 N for the adjacent, 2 mm, 3 mm and 5 mm treatment groups as shown in Table 1. The adjacent group had a significantly lower

  18. 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.

  19. 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.

  20. 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...