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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2007-6-28
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pubmed:abstractText |
Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.
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pubmed:commentsCorrections |
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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 |
Jul
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BornholdtDorotheaD,
pubmed-author:EndersHerbertH,
pubmed-author:FritzBarbaraB,
pubmed-author:GrasshoffUteU,
pubmed-author:GrzeschikKarl-HeinzKH,
pubmed-author:HöflingKatjaK,
pubmed-author:HappleRudolfR,
pubmed-author:HertlMichaelM,
pubmed-author:KönigArneA,
pubmed-author:OeffnerFrankF,
pubmed-author:OjiVinzenzV,
pubmed-author:ParadisiMauroM,
pubmed-author:SchuchardtChristianC,
pubmed-author:SzalaiZsuzsannaZ,
pubmed-author:TadiniGianlucaG,
pubmed-author:TraupeHeikoH,
pubmed-author:del Carmen BoenteMaríaM
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pubmed:issnType |
Print
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pubmed:volume |
39
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
833-5
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pubmed:meshHeading |
pubmed-meshheading:17546031-Adolescent,
pubmed-meshheading:17546031-Adult,
pubmed-meshheading:17546031-Child,
pubmed-meshheading:17546031-Female,
pubmed-meshheading:17546031-Focal Dermal Hypoplasia,
pubmed-meshheading:17546031-Humans,
pubmed-meshheading:17546031-Male,
pubmed-meshheading:17546031-Membrane Proteins,
pubmed-meshheading:17546031-Middle Aged,
pubmed-meshheading:17546031-Pedigree,
pubmed-meshheading:17546031-Signal Transduction,
pubmed-meshheading:17546031-Wnt Proteins
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pubmed:year |
2007
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pubmed:articleTitle |
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
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pubmed:affiliation |
Department of Human Genetics, University of Marburg, Bahnhofstr. 7, 35033 Marburg, Germany. grzeschi@staff.uni-marburg.de
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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