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Full Text Available.BackgroundRett syndrome (RTT), a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT. When these same mutations occur in males, they often present as severe neonatal encephalopathy. However, some MECP2 mutations can also lead to diseases characterized as mental retardation syndromes, particularly in boys. One of these mutations, A140V, is a common, recurring missense mutation accounting for about 0.6% of all MeCP2 mutations and ranking 21st by frequency. It has been described in familial X-linked mental retardation (XLMR), PPM- X syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked mental retardation) and in other neuropsychiatric syndromes. Interestingly, this mutation has been reported to preserve the methyl-CpG binding function of the MeCP2 protein while compromising its ability to bind to the mental retardation associated protein ATRX.ResultsWe report the construction and initial characterization of a mouse model expressing the A140V MeCP2 mutation. These initial descriptive studies in male hemizygous mice have revealed brain abnormalities seen in both RTT and mental retardation. The abnormalities found include increases in cell packing density in the brain and a significant reduction in the complexity of neuronal dendritic branching. In contrast to some MeCP2 mutation mouse models, the A140V mouse has an apparently normal lifespan and normal weight gain patterns with no obvious seizures, tremors, breathing difficulties or kyphosis.ConclusionWe have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms.
BackgroundRett syndrome (RTT), a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation...Full Text Available
axion: Axion - Java Database - News
The Axion news feed is on hiatus, yet Axion is still being actively developed. ... Better late than never, it's the Axion database project's October 2003 ...
A small, fast, SQL and JDBC compliant relational database engine written in and for the Java programming language. [Open source, BSD License]
arXiv:hep-ph/9506229 v1 02 Jun 95
File Format: PDF/Adobe Acrobat - View as HTMLThe axion is the quantum of oscillation of the ? parameter of QCD. It is a particle ... ticle physics is the PQ mechanism with an ?invisible? axion. ...
Techniques for Modeling Human Intestinal Cancer in Mice
A technique is described for the reproducible primary culture of colonic epithelium from adult mice. A collagenase-dispase digestion technique (adapted form Evans et al. 1992) is used to release the epithelium, followed by differential sedimentation to produce a high purity crypt preparation with maintained structural integrity and minimal mesenchymal contamination. The crypt units attach to collagen coated plastic within 24 hr and the epithelial cells quickly begin to migrate outwards producing a monolayer surrounding the attached crypts.
Techniques for Modeling Human Intestinal Cancer in Mice
A variety of enzymic and non-enzymic methods to isolate epithelium from the small intestine have been previously published. Sequential fractionation of cells from the villus to the crypt has been reported in some of these papers, which allows the comparative study of terminally differentiated and proliferative cell phenotypes.
Techniques for Modeling Human Intestinal Cancer in Mice
All reagents should be sterilized by filtration prior to use, and all work must be carried out in a tissue culture cabinet after enzymatic digestion.
Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots
1999-12-01
SummaryRett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding...Full Text Available
Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots
1999-12-01
Full Text Available.SummaryRett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from MECP2 mutations. Both nonsense (R168X and R255X) and missense (R106W and R306C) mutations have been found, with multiple recurrences. R168X mutations were identified in six unrelated sporadic cases, as well as in two affected sisters and their normal mother. The missense mutations were de novo and affect conserved domains of MeCP2. All of the nucleotide substitutions involve C→T transitions at CpG hotspots. A single nucleotide deletion, at codon 137, that creates a L138X stop codon within the methyl-binding domain was found in an individual with features of RTT and incontinentia pigmenti. An 806delG deletion causing a V288X stop in the transcription-repression domain was identified in a woman with motor-coordination problems, mild learning disability, and skewed X inactivation; in her sister and daughter, who were affected with classic RTT; and in her hemizygous son, who died from congenital encephalopathy. Thus, some males with RTT-causing MECP2 mutations may survive to birth, and female heterozygotes with favorably skewed X-inactivation patterns may have little or no involvement. Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
The National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI) have announced new funding opportunities centered on Genomic Technologies, as components of The Cancer Genome Atlas (TCGA) pilot project. This Genomic Technologies initiative intends to inspire and promote the development of highly innovative tools and new ways to interrogate genomic alterations in cancer. The possible funding mechanisms include R21, SBBIR and STTR.
NCIDEA: Preclinical Models for Human Cancers Working Group: Non-Mammalian..Recommendations
Recommendation 1. Promote the analysis of the functions of human oncogenes and tumor suppressor genes and of pathways that include such genes in non-mammalian organisms. More generally, promote the acquisition of basic knowledge about non-mammalian organisms important for use as preclinical models for cancer.
Steering Committee Members Organize the schedule and format of roundtable discussions, workshops, and seminars in collaboration with Barbara Vonderhaar. Lalage Wakefield and Gil Smith Consider approaches that can be taken by the MMMC to investigate cancer stem cells with the objective of organizing a workshop.
Montreal Axion - Wikipedia, the free encyclopedia
The Montreal Axion are a National Women's Hockey League team located in Montreal, Quebec, Canada. v ? d ? e · Sports teams based in the province of Quebec, ...
Using laboratory and mouse models of human breast cancer, researchers have found that a small molecule capable of targeting specific proteins on the surface of breast cancer cells can inhibit the growth of breast cancer cells that migrate to the brain.
Will provide for the integration, development, and implementation of tissue and pathology tools. DOMAIN WORKSPACE 2 Integrative Cancer Research Will provide tools and systems to enable integration and sharing of information.
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Axion Project Incubation Status - Apache Incubator
For general project status, see the Axion project website. ... The axion project never moved to the ASF from tigris.org. 2003-12-19: The Apache Incubator ...
We believe our PcB technology represents the first major advance in lead-acid battery technology in 30 years.
Axion - Wikipedia, the free encyclopedia
The axion is a hypothetical elementary particle postulated by Peccei-Quinn theory in 1977 to resolve the strong-CP problem in quantum chromodynamics (QCD). ...
2008-06-15
Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by regression of language and hand use, is primarily caused by mutations in Methyl-CpG-Binding...Full Text Available
2008-06-15
Full Text Available.Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by regression of language and hand use, is primarily caused by mutations in Methyl-CpG-Binding Protein 2 (MECP2). Loss of function mutations in MECP2 are also found in other neurodevelopmental disorders such as autism, Angelman-like syndrome, and non-specific mental retardation. Furthermore, duplication of the MECP2 genomic region results in mental retardation with speech and social problems. The common features of human neurodevelopmental disorders caused by the loss or increase of MeCP2 function suggest that even modest alterations of MeCP2 protein levels result in neurodevelopmental problems. To determine if a small reduction in MeCP2 level has phenotypic consequences, we characterized a conditional mouse allele of Mecp2 that expresses fifty percent of the wild-type level of MeCP2. Upon careful behavioral analysis, mice that harbor this allele display a spectrum of abnormalities such as learning and motor deficits, decreased anxiety, altered social behavior and nest building, decreased pain recognition, and disrupted breathing patterns. These results indicate that precise control of MeCP2 is critical for normal behavior and predict human neurodevelopmental disorders will result from a subtle reduction in MeCP2 expression.
Mouse Study Finds That Mutant Enzyme is Able to Help Protect DNA From Damage
Research has shown that when DNA damage occurs, a key enzyme -- called ataxia telangiectasia mutated protein, or ATM -- becomes activated. A new study in mice shows that this enzyme continues to be activated and function normally, even without a chemical modification previously thought to be necessary.
Whole mouse; dissected (in 400 ml) Dissected organs (in 100 ml) BAD Mouse in an ounce Mouse Small Intestine Which was in the bottom of the test tube?
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