Overview

nephronophthisis


'nephronophthisis' can also refer to...

Nephronophthisis

Nephronophthisis

nephronophthisis

Nephronophthisis and medullary cystic kidney disease overview

Identification of a gene for nephronophthisis.

Evidence for further genetic heterogeneity in nephronophthisis

Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex.

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis

Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B

SP004CHARACTERIZATION OF A NOVEL MAPKBP1 MUTATION CAUSING LATE-ONSET CILIA-INDEPENDENT NEPHRONOPHTHISIS

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans

Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis

The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

 

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A hereditary cystic kidney disorder that leads to kidney failure but is associated with various nonrenal dysfunctions, all linked through dysfunctions in primary cilia. Various forms are known: see nephrocystins.

Subjects: Medicine and Health.


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