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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0033684,
umls-concept:C0037083,
umls-concept:C0265998,
umls-concept:C0439660,
umls-concept:C0679058,
umls-concept:C1327616,
umls-concept:C1547699,
umls-concept:C1710082,
umls-concept:C1826944,
umls-concept:C1826946,
umls-concept:C2700640
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pubmed:issue |
11
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pubmed:dateCreated |
2006-10-30
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pubmed:abstractText |
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.
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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 |
Nov
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BlaydonDiana CDC,
pubmed-author:ChristianoAngela MAM,
pubmed-author:Hopsu-HavuVäinö KVK,
pubmed-author:IshiiYoshiyukiY,
pubmed-author:KelsellDavid PDP,
pubmed-author:MossCeliaC,
pubmed-author:O'TooleEdel AEA,
pubmed-author:RüschendorfFranzF,
pubmed-author:SinclairClaireC,
pubmed-author:TehMuy-TeckMT,
pubmed-author:TidmanNicholasN,
pubmed-author:UnsworthHarriet CHC,
pubmed-author:WajidMuhammadM,
pubmed-author:WatsonRosemarieR,
pubmed-author:de BerkerDavidD
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pubmed:issnType |
Print
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pubmed:volume |
38
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
1245-7
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pubmed:dateRevised |
2007-12-3
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pubmed:meshHeading |
pubmed-meshheading:17041604-Amino Acid Sequence,
pubmed-meshheading:17041604-Animals,
pubmed-meshheading:17041604-Humans,
pubmed-meshheading:17041604-Mice,
pubmed-meshheading:17041604-Mice, Transgenic,
pubmed-meshheading:17041604-Molecular Sequence Data,
pubmed-meshheading:17041604-Mutation,
pubmed-meshheading:17041604-Nails, Malformed,
pubmed-meshheading:17041604-Sequence Homology, Amino Acid,
pubmed-meshheading:17041604-Signal Transduction,
pubmed-meshheading:17041604-Thrombospondins,
pubmed-meshheading:17041604-Wnt Proteins
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pubmed:year |
2006
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pubmed:articleTitle |
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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pubmed:affiliation |
Centre for Cutaneous Research, Institute of Cell & Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 4AT, UK.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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