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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5266
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pubmed:dateCreated |
1996-7-23
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pubmed:databankReference |
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pubmed:abstractText |
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
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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 |
May
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pubmed:issn |
0036-8075
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pubmed:author |
pubmed-author:BreuningM HMH,
pubmed-author:DeltasC CCC,
pubmed-author:GabowP APA,
pubmed-author:HayashiTT,
pubmed-author:JiG FGF,
pubmed-author:KimberlingW JWJ,
pubmed-author:MochizukiTT,
pubmed-author:PetersD JDJ,
pubmed-author:PieridesAA,
pubmed-author:ReynoldsD MDM,
pubmed-author:SarisJ JJJ,
pubmed-author:SomloSS,
pubmed-author:VeldhuisenBB,
pubmed-author:WuGG,
pubmed-author:XenophontosS LSL
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pubmed:issnType |
Print
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pubmed:day |
31
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pubmed:volume |
272
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1339-42
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:8650545-Amino Acid Sequence,
pubmed-meshheading:8650545-Animals,
pubmed-meshheading:8650545-Base Sequence,
pubmed-meshheading:8650545-Caenorhabditis elegans,
pubmed-meshheading:8650545-Calcium Channels,
pubmed-meshheading:8650545-Chromosome Mapping,
pubmed-meshheading:8650545-Chromosomes, Human, Pair 4,
pubmed-meshheading:8650545-Cloning, Molecular,
pubmed-meshheading:8650545-Consensus Sequence,
pubmed-meshheading:8650545-Crystallography, X-Ray,
pubmed-meshheading:8650545-Female,
pubmed-meshheading:8650545-Glycosylation,
pubmed-meshheading:8650545-Humans,
pubmed-meshheading:8650545-Male,
pubmed-meshheading:8650545-Membrane Proteins,
pubmed-meshheading:8650545-Molecular Sequence Data,
pubmed-meshheading:8650545-Mutation,
pubmed-meshheading:8650545-Pedigree,
pubmed-meshheading:8650545-Phenotype,
pubmed-meshheading:8650545-Polycystic Kidney, Autosomal Dominant,
pubmed-meshheading:8650545-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8650545-Proteins,
pubmed-meshheading:8650545-Sodium Channels,
pubmed-meshheading:8650545-TRPP Cation Channels
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pubmed:year |
1996
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pubmed:articleTitle |
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
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pubmed:affiliation |
Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, 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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