| Down syndrome and the genes of human chromosome 21: current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: towards gene-phenotype correlations in Down syndrome. Washington D.C., September 28-October 1, 2007. | |
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MedLine Citation:
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PMID: 18544929 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Down syndrome (DS), trisomy of human chromosome 21, is the most common genetic cause of intellectual disability. With an incidence in some countries as high as one in approximately 700 live births, and a complex, extensive and variably severe phenotype, Down syndrome is a significant medical and social challenge. In recent years, there has been a rapid increase in information on the functions of the genes of human chromosome 21, as well as in techniques and resources for their analysis. A recent workshop brought together experts on the molecular biology of Down syndrome and chromosome 21 with interested researchers in other fields to discuss advances and potentials for generating gene-phenotype correlations. An additional goal of the workshop was to work towards identification of targets for therapeutics that will correct features of DS. A knowledge-based approach to therapeutics also requires the correlation of chromosome 21 gene function with phenotypic features. |
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Authors:
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M Pritchard; R H Reeves; M Dierssen; D Patterson; K J Gardiner |
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Publication Detail:
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Type: Congresses; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2008-05-07 |
Journal Detail:
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Title: Cytogenetic and genome research Volume: 121 ISSN: 1424-859X ISO Abbreviation: Cytogenet. Genome Res. Publication Date: 2008 |
Date Detail:
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Created Date: 2008-06-11 Completed Date: 2008-06-19 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 67-77 Citation Subset: IM |
Copyright Information:
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(c) 2008 S. Karger AG, Basel. |
Affiliation:
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Monash University, Victoria, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Chromosomes, Human, Pair 21 / genetics* Cytogenetics Disease Models, Animal Down Syndrome / genetics*, therapy Humans Intracellular Signaling Peptides and Proteins / genetics Mice MicroRNAs / genetics Mitochondria / genetics, metabolism Muscle Proteins / genetics Nervous System / growth & development Phenotype Protein-Serine-Threonine Kinases / genetics Protein-Tyrosine Kinases / genetics cdc42 GTP-Binding Protein / genetics |
| Grant Support | |
ID/Acronym/Agency:
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R13HD055810/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/MicroRNAs; 0/Muscle Proteins; 0/RCAN1 protein, human; EC 2.7.1.-/Dyrk kinase; EC 2.7.10.1/Protein-Tyrosine Kinases; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 3.6.5.2/cdc42 GTP-Binding Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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