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Nephronophthisis, familial juvenile

Known as: Juvenile Nephronophthisis, Type 1 nephronophthisis, NPHP1 
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present… 
National Institutes of Health

Related topics

Related topics

13 relations
AnemiaApraxia, oculomotor, Cogan typeArima syndromeAutosomal recessive inheritance

Broader (1)

Cystic Kidney Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Clinical and molecular features of Joubert syndrome and related disorders
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation… 
Highly Cited
2007
Highly Cited
2007
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia… 
Review
2006
Review
2006
Renal Cystic Diseases: A REVIEW
This review aims to assist in the categorization of inherited, developmental, and acquired cystic disease of the kidney as well… 
Highly Cited
2001
Highly Cited
2001
Arabidopsis NPL1: a phototropin homolog controlling the chloroplast high-light avoidance response.
Chloroplasts relocate their positions in a cell in response to the intensity of incident light, moving to the side wall of the… 
Highly Cited
2001
Highly Cited
2001
The Phototropin Family of Photoreceptors
The past decade has seen dramatic advances in our knowledge of plant photoreceptors and in our understanding of the signal… 
Highly Cited
1999
Highly Cited
1999
LOV (light, oxygen, or voltage) domains of the blue-light photoreceptor phototropin (nph1): binding sites for the chromophore flavin mononucleotide.
Phototropism, the bending response of plant organs to or away from a directional light source, is one of the best studied blue… 
Highly Cited
1998
Highly Cited
1998
Arabidopsis NPH1: a flavoprotein with the properties of a photoreceptor for phototropism.
The NPH1 gene of Arabidopsis thaliana encodes a 120-kilodalton serine-threonine protein kinase hypothesized to function as a… 
Highly Cited
1998
Highly Cited
1998
Roles in dimerization and blue light photoresponse of the PAS and LOV domains of Neurospora crassa white collar proteins
The genes coding for white collar‐1 and white collar‐2 (wc‐1 and wc‐2 ) have been isolated previously, and their products… 
Highly Cited
1997
Highly Cited
1997
Arabidopsis NPH1: a protein kinase with a putative redox-sensing domain.
The NPH1 (nonphototropic hypocotyl 1) gene encodes an essential component acting very early in the signal-transduction chain for… 
Highly Cited
1995
Highly Cited
1995
Mutations in the NPH1 locus of Arabidopsis disrupt the perception of phototropic stimuli.
The phototropic response is an important component of seedling establishment in higher plants because it orients the young… 
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