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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
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- Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
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- Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
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- Article
Mutational analysis in 119 families with nephronophthisis.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 3, p. 366, doi. 10.1007/s00467-006-0334-9
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- Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 418, doi. 10.1002/humu.20669
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- Publication type:
- Article