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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2008-12-2
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pubmed:abstractText |
Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approximately 3% in males with proven or probable XLMR. The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1468-6244
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
787-93
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pubmed:meshHeading |
pubmed-meshheading:18697827-Adolescent,
pubmed-meshheading:18697827-Adult,
pubmed-meshheading:18697827-Amino Acid Sequence,
pubmed-meshheading:18697827-Cohort Studies,
pubmed-meshheading:18697827-DNA Mutational Analysis,
pubmed-meshheading:18697827-Growth Disorders,
pubmed-meshheading:18697827-Humans,
pubmed-meshheading:18697827-Male,
pubmed-meshheading:18697827-Mental Retardation, X-Linked,
pubmed-meshheading:18697827-Middle Aged,
pubmed-meshheading:18697827-Mutation,
pubmed-meshheading:18697827-Oxidoreductases, N-Demethylating,
pubmed-meshheading:18697827-Pedigree,
pubmed-meshheading:18697827-Reflex, Abnormal,
pubmed-meshheading:18697827-Young Adult
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pubmed:year |
2008
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pubmed:articleTitle |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
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pubmed:affiliation |
Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA. fatimaabidi@ggc.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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