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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2004
Highly Cited
2004
Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent… (More)
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Highly Cited
2002
Highly Cited
2002
Nephronophthisis, the most common genetic cause of chronic renal failure in children, is a progressive tubulo-interstitial kidney… (More)
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Highly Cited
2001
Highly Cited
2001
Chloroplasts relocate their positions in a cell in response to the intensity of incident light, moving to the side wall of the… (More)
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Highly Cited
2001
Highly Cited
2001
UV-A/blue light acts to regulate a number of physiological processes in higher plants. These include light-driven chloroplast… (More)
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Highly Cited
2000
Highly Cited
2000
The blue light receptor NPH1 (for nonphototropic hypocotyl) has been considered to be the only UV-A/blue light receptor that… (More)
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Highly Cited
1999
Highly Cited
1999
Phototropism, the bending response of plant organs to or away from a directional light source, is one of the best studied blue… (More)
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Highly Cited
1998
Highly Cited
1998
The NPH1 gene of Arabidopsis thaliana encodes a 120-kilodalton serine-threonine protein kinase hypothesized to function as a… (More)
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Highly Cited
1997
Highly Cited
1997
Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal… (More)
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Highly Cited
1997
Highly Cited
1997
The NPH1 (nonphototropic hypocotyl 1) gene encodes an essential component acting very early in the signal-transduction chain for… (More)
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Highly Cited
1995
Highly Cited
1995
The phototropic response is an important component of seedling establishment in higher plants because it orients the young… (More)
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