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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-12-3
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pubmed:databankReference |
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pubmed:abstractText |
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
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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 |
1061-4036
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pubmed:author |
pubmed-author:ArandaBeatrizB,
pubmed-author:ChellyJamelJ,
pubmed-author:FreudeKristineK,
pubmed-author:FrynsJean-PierreJP,
pubmed-author:GéczJozefJ,
pubmed-author:GurokUlfU,
pubmed-author:HaasStefanS,
pubmed-author:HaeslerSebastianS,
pubmed-author:HagensOlivierO,
pubmed-author:HamelBen C JBC,
pubmed-author:HartmannNilsN,
pubmed-author:HoeltzenbeinMariaM,
pubmed-author:HoffmannKirstenK,
pubmed-author:JensenLars RLR,
pubmed-author:KalscheuerVera MVM,
pubmed-author:LenznerSteffenS,
pubmed-author:MoraineClaudeC,
pubmed-author:MoserBettinaB,
pubmed-author:MusanteLucianaL,
pubmed-author:NshedjanArpikA,
pubmed-author:NuberUlrikeU,
pubmed-author:RoloffTim-ChristophTC,
pubmed-author:RopersHans-HilgerHH,
pubmed-author:ScharffConstanceC,
pubmed-author:ScherthanHarryH,
pubmed-author:SchweigerSusannS,
pubmed-author:SefianiAbdelazizA,
pubmed-author:ShoichetSarahS,
pubmed-author:TaoJiongJ,
pubmed-author:TurnerGillianG,
pubmed-author:TzschachAndreasA,
pubmed-author:Van BokhovenHansH,
pubmed-author:YntemaHelger GHG
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pubmed:issnType |
Print
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
313-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:14634649-Carrier Proteins,
pubmed-meshheading:14634649-Female,
pubmed-meshheading:14634649-Genetic Linkage,
pubmed-meshheading:14634649-Humans,
pubmed-meshheading:14634649-Male,
pubmed-meshheading:14634649-Mental Retardation, X-Linked,
pubmed-meshheading:14634649-Molecular Sequence Data,
pubmed-meshheading:14634649-Mutation,
pubmed-meshheading:14634649-Nuclear Proteins,
pubmed-meshheading:14634649-Oligopeptides,
pubmed-meshheading:14634649-Pedigree,
pubmed-meshheading:14634649-Syndrome
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pubmed:year |
2003
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pubmed:articleTitle |
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
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pubmed:affiliation |
Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany. kalscheu@molgen.mpg.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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