Fanconi Syndrome

Known as: Fanconi's syndrome, nephropathic cystinosis, Fanconi Syndrome [Disease/Finding] 
A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is… (More)
National Institutes of Health

Papers overview

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Review
2013
Review
2013
The function of Fanconi anaemia proteins is to maintain genomic stability. Their main role is in the repair of DNA interstrand… (More)
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Highly Cited
2009
Highly Cited
2009
The generation of induced pluripotent stem (iPS) cells has enabled the derivation of patient-specific pluripotent cells and… (More)
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Highly Cited
2009
Highly Cited
2009
The 2009 update of the American Association for the Study of Liver Diseases (AASLD) Practice Guidelines for Management of Chronic… (More)
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Review
2004
Review
2004
Recent evidence connects the proteins that are encoded by the BRCA1 and BRCA2 breast cancer susceptibility genes, and other… (More)
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Highly Cited
2004
Highly Cited
2004
The Fanconi anemia (FA) protein FANCC is essential for chromosome stability in vertebrate cells, a feature underscored by the… (More)
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Highly Cited
2003
Highly Cited
2003
We report 3 cases of renal toxicity associated with use of the antiviral agent tenofovir. Renal failure, proximal tubular… (More)
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Highly Cited
2002
Highly Cited
2002
Although nephrotoxicity of cidofovir and adefovir is well established, no renal side effects have been observed yet with… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Glomerular sieving coefficients (GSCs) of proteins have been measured extensively in animals but not humans. We have… (More)
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Highly Cited
1996
Highly Cited
1996
HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen… (More)
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Highly Cited
1976
Highly Cited
1976
INDIVIDUALS with certain genetic syndromes associated with chromosome damage show markedly increased incidence of cancer1. In one… (More)
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