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NEPHRONOPHTHISIS 4

Known as: NEPHRONOPHTHISIS 4, JUVENILE, NPHP4 
National Institutes of Health

Related topics

Related topics

8 relations
AnemiaAutosomal recessive inheritanceGrowth retardationNPHP4 gene

Broader (1)

Cystic Kidney Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.
Nephronophthisis (NPH) is a genetically heterogenous kidney disease and represents the most common genetic cause for end-stage… 
Review
2012
Review
2012
Inversin, Wnt signaling and primary cilia.
Highly Cited
2011
Highly Cited
2011
NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway
The conserved Hippo signaling pathway regulates organ size in Drosophila melanogaster and mammals and has an essential role in… 
Highly Cited
2011
Highly Cited
2011
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal… 
Highly Cited
2010
Highly Cited
2010
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia
A primary cilium is an antenna‐like structure extending from the surface of most vertebrate cells. It is structurally divided… 
Highly Cited
2010
Highly Cited
2010
CSPP Is a Ciliary Protein Interacting with Nephrocystin 8 and Required for Cilia Formation
CSPP and CSPP-L are centrosomal proteins of known mitotic function. Here, we identify CSPP proteins as ciliary proteins and place… 
Highly Cited
2008
Highly Cited
2008
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in… 
2006
2006
Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
Nephronophthisis (NPH) is an autosomal recessivenephropathy with chronic tubulointerstitial involve-ment, which represents the… 
Highly Cited
2005
Highly Cited
2005
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR… 
Highly Cited
2002
Highly Cited
2002
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To… 
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