Results 151 to 160 of about 3,017 (208)

Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis. [PDF]

open access: yesMol Cell Biol
Rahman F   +10 more
europepmc   +1 more source

El CTN/50 de documentación

open access: yesRevista Española de Documentación Científica, 2004
openaire   +2 more sources

CTNS mutations in patients with cystinosis [PDF]

open access: yesHuman Mutation, 1999
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes. The most common form of cystinosis, the nephropathic or infantile type, is characterized by renal failure at 10 ...
Vorasuk Shotelersuk   +2 more
exaly   +5 more sources

Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]

open access: yesPediatric Nephrology, 2010
Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals.
Elena Levtchenko   +2 more
exaly   +6 more sources

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