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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2002-3-28
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pubmed:databankReference |
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pubmed:abstractText |
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between the rat locus and the ARPKD region in humans; a candidate gene was identified. A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. The PKHD1 transcript, approximately 16 kb long, is expressed in adult and fetal kidney, liver and pancreas and is predicted to encode a large novel protein, fibrocystin, with multiple copies of a domain shared with plexins and transcription factors. Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation.
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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 |
Mar
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BacallaoRobertR,
pubmed-author:CunninghamJulie MJM,
pubmed-author:HarrisPeter CPC,
pubmed-author:HoganMarie CMC,
pubmed-author:IshibashiMasahikoM,
pubmed-author:KublyVickyV,
pubmed-author:MillinerDawn SDS,
pubmed-author:RossettiSandroS,
pubmed-author:SneddonTamT,
pubmed-author:TorresVicente EVE,
pubmed-author:WalkerDeniseD,
pubmed-author:WangXiaofangX,
pubmed-author:WardChristopher JCJ
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pubmed:issnType |
Print
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
259-69
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11919560-Adult,
pubmed-meshheading:11919560-Amino Acid Sequence,
pubmed-meshheading:11919560-Animals,
pubmed-meshheading:11919560-Cloning, Molecular,
pubmed-meshheading:11919560-Female,
pubmed-meshheading:11919560-Genetic Testing,
pubmed-meshheading:11919560-Heterozygote,
pubmed-meshheading:11919560-Humans,
pubmed-meshheading:11919560-Infant,
pubmed-meshheading:11919560-Infant, Newborn,
pubmed-meshheading:11919560-Male,
pubmed-meshheading:11919560-Molecular Sequence Data,
pubmed-meshheading:11919560-Mutation,
pubmed-meshheading:11919560-Polycystic Kidney, Autosomal Recessive,
pubmed-meshheading:11919560-RNA, Messenger,
pubmed-meshheading:11919560-Rats,
pubmed-meshheading:11919560-Rats, Sprague-Dawley,
pubmed-meshheading:11919560-Receptors, Cell Surface,
pubmed-meshheading:11919560-Sequence Homology, Amino Acid
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pubmed:year |
2002
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pubmed:articleTitle |
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
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pubmed:affiliation |
Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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