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rdf:type |
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lifeskim:mentions |
umls-concept:C0002170,
umls-concept:C0011849,
umls-concept:C0015371,
umls-concept:C0020619,
umls-concept:C0026882,
umls-concept:C0028608,
umls-concept:C0679058,
umls-concept:C1524003,
umls-concept:C1547699,
umls-concept:C1824104,
umls-concept:C1970780,
umls-concept:C2700640
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pubmed:issue |
6
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pubmed:dateCreated |
2008-12-10
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pubmed:abstractText |
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular phenotype observed in patient lymphoblasts implicates a role for the nucleolus in the pathogenesis of this disease. Our findings expand the list of human disorders linked to the nucleolus and further highlight the developmental and/or maintenance functions of this organelle.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-10930464,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-11895476,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-15173230,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-17072349,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-17167799,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-17475909,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-17519961,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-17710875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-18049083,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-18175354,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-18439547,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-3902398,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19026396-6876115
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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 |
1537-6605
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pubmed:author |
pubmed-author:Al-MohannaFutwanF,
pubmed-author:Al-SaifAmrA,
pubmed-author:Al-SemariAbdulazizA,
pubmed-author:AlazamiAnas MAM,
pubmed-author:AlkurayaFowzan SFS,
pubmed-author:AlzahraniFatemaF,
pubmed-author:BaltusAndyA,
pubmed-author:BaviPrashantP,
pubmed-author:BhatiaKailash PKP,
pubmed-author:BohlegaSaeedS,
pubmed-author:ColakDilekD,
pubmed-author:DandaSumitaS,
pubmed-author:KayaNamikN,
pubmed-author:KhalakHanifH,
pubmed-author:MeyerBrianB,
pubmed-author:PeterlinBorutB,
pubmed-author:SakatiNadiaN,
pubmed-author:SchneiderSusanne ASA,
pubmed-author:WalshChristopher ACA,
pubmed-author:ZlitniSoumayaS
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pubmed:issnType |
Electronic
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pubmed:volume |
83
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
684-91
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:19026396-Alopecia,
pubmed-meshheading:19026396-Amino Acid Sequence,
pubmed-meshheading:19026396-Basal Ganglia Diseases,
pubmed-meshheading:19026396-Base Sequence,
pubmed-meshheading:19026396-Chromosomes, Human, Pair 2,
pubmed-meshheading:19026396-Conserved Sequence,
pubmed-meshheading:19026396-Diabetes Mellitus,
pubmed-meshheading:19026396-Female,
pubmed-meshheading:19026396-Genes, Recessive,
pubmed-meshheading:19026396-Genetic Linkage,
pubmed-meshheading:19026396-Genome, Human,
pubmed-meshheading:19026396-Haplotypes,
pubmed-meshheading:19026396-Homozygote,
pubmed-meshheading:19026396-Humans,
pubmed-meshheading:19026396-Hypogonadism,
pubmed-meshheading:19026396-Intellectual Disability,
pubmed-meshheading:19026396-Lod Score,
pubmed-meshheading:19026396-Male,
pubmed-meshheading:19026396-Molecular Sequence Data,
pubmed-meshheading:19026396-Mutation,
pubmed-meshheading:19026396-Nuclear Proteins,
pubmed-meshheading:19026396-Open Reading Frames,
pubmed-meshheading:19026396-Pedigree,
pubmed-meshheading:19026396-Physical Chromosome Mapping,
pubmed-meshheading:19026396-Sequence Analysis, DNA,
pubmed-meshheading:19026396-Sequence Deletion,
pubmed-meshheading:19026396-Syndrome
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pubmed:year |
2008
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pubmed:articleTitle |
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
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pubmed:affiliation |
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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