cystinosin

Known as: cystinosis, nephropathic protein, human, lysosomal cystine transporter, human, CTNS protein, human 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1999-2017
01219992017

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2017
2017
Background:Nephropathic cystinosis is a lysosomal storage disease that is caused by mutations in the CTNS gene encoding a cystine… (More)
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2015
2015
Cystinosin is a lysosomal cystine transporter defective in cystinosis, an autosomal recessive lysosomal storage disorder. It is… (More)
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2012
2012
Nephropathic cystinosis is multisystemic progressive disorder caused by mutations of CTNS gene that encodes for the lysosomal… (More)
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2008
2008
Nephropathic cystinosis is a lysosomal disorder caused by functional defects of cystinosin, which mediates cystine efflux into… (More)
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2004
2004
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile… (More)
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2002
2002
Cystinosis is an autosomal recessive disorder associated with excessive lysosomal cystine accumulation secondary to defective… (More)
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Highly Cited
2002
Highly Cited
2002
Cystinosis is an autosomal recessive disorder characterized by an accumulation of intralysosomal cystine. The causative gene… (More)
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Highly Cited
2001
Highly Cited
2001
Cystinosis is an inherited lysosomal storage disease characterized by defective transport of cystine out of lysosomes. However… (More)
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2001
2001
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies… (More)
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1999
1999
Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across… (More)
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