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rdf:type |
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lifeskim:mentions |
umls-concept:C0012634,
umls-concept:C0022658,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0268113,
umls-concept:C0332307,
umls-concept:C0443147,
umls-concept:C0449774,
umls-concept:C0679622,
umls-concept:C0687120,
umls-concept:C1421351,
umls-concept:C1691228
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pubmed:issue |
1
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pubmed:dateCreated |
2005-6-28
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pubmed:abstractText |
Autosomal dominant medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and autosomal dominant glomerulocystic kidney disease (GCKD) constitute a hereditary renal disease group that may lead to end-stage renal failure caused by mutations of the UMOD gene and its product, uromodulin or Tamm-Horsfall protein. Of 34 different UMOD mutations described to date, 28 were located in exon 4. Based on such mutation clustering, some investigators have proposed that the sequencing of UMOD exon 4 might become a preliminary diagnostic test for patients with this phenotype.
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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 |
1523-6838
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
52-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15983957-Adult,
pubmed-meshheading:15983957-Aged,
pubmed-meshheading:15983957-Amino Acid Sequence,
pubmed-meshheading:15983957-Amino Acid Substitution,
pubmed-meshheading:15983957-DNA Mutational Analysis,
pubmed-meshheading:15983957-Exons,
pubmed-meshheading:15983957-Female,
pubmed-meshheading:15983957-Haplotypes,
pubmed-meshheading:15983957-Humans,
pubmed-meshheading:15983957-Hyperuricemia,
pubmed-meshheading:15983957-Lod Score,
pubmed-meshheading:15983957-Male,
pubmed-meshheading:15983957-Middle Aged,
pubmed-meshheading:15983957-Molecular Sequence Data,
pubmed-meshheading:15983957-Mucoproteins,
pubmed-meshheading:15983957-Mutation, Missense,
pubmed-meshheading:15983957-Pedigree,
pubmed-meshheading:15983957-Phenotype,
pubmed-meshheading:15983957-Point Mutation,
pubmed-meshheading:15983957-Polycystic Kidney, Autosomal Dominant,
pubmed-meshheading:15983957-Protein Structure, Tertiary,
pubmed-meshheading:15983957-Sequence Alignment,
pubmed-meshheading:15983957-Sequence Homology, Amino Acid,
pubmed-meshheading:15983957-Spain,
pubmed-meshheading:15983957-Species Specificity,
pubmed-meshheading:15983957-Uromodulin
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pubmed:year |
2005
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pubmed:articleTitle |
A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.
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pubmed:affiliation |
Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain. xose.manuel.lens.neo@sergas.es
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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