Art
J-GLOBAL ID：201702215627233798
Reference number：17A0087850
Clinical and genetic characteristics of Japanese nephronophthisis patients
日本人ネフロン癆患者の臨床的と遺伝的特徴
Author (7)：
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Material：
Volume：
20
Issue：
4
Page：
637-649
Publication year：
Aug. 2016
JST Material Number：
L3173A
ISSN：
1342-1751
Document type：
Article
Article type：
原著論文
Country of issue：
Germany, Federal Republic of (DEU)
Language：
ENGLISH (EN)
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Semi thesaurus term：
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
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Author keywords (5)：
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JST classification (3)：
JST classification
Category name(code) classified by JST.
Urologenital system diagnosis
, Molecular genetics in general
, Pediatric diagnosis
Reference (27)：
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Hildebrandt F, Otto E. Molecular genetics of the nephronophthisis-medullary cystic disease complex. J Am Soc Nephrol. 2000;11:1753-61.
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Donaldson JC, Dise RS, Ritchie MD, Hanks SK. Nephrocystin-converted domains involved in targeting to epithelial cell-cell functions, interaction with filaments, and establishing cell polarity. J Biol Chem. 2002;277:29028-35.
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Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002;32:300-5.
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Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003;34:413-20.
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Omran H, Fernandez C, Jung M, Häffner K, Fargier B, Villaquiran A, Waldherr R, Gretz N, Brandis M, Rüschendorf F, Reis A, Hildebrandt F. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. Am J Hum Genet. 2000;66:118-27.
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Terms in the title
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