Results 141 to 150 of about 2,225 (187)

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   +4 more sources

Mutations of CTNS Causing Intermediate Cystinosis

Molecular Genetics and Metabolism, 1999
Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation.
J, Thoene   +9 more
openaire   +2 more sources

Modulation of CTNS gene expression by intracellular thiols

Free Radical Biology and Medicine, 2010
The cysteine/cystine (Cys/CySS) couple represents one of the major cell thiol/disulfide systems and is involved in the regulation of several metabolic pathways and the cell redox state. Nephropathic cystinosis (NC) is an autosomal recessive disease characterized by renal cellular dysfunction due to mutations in the CTNS gene, which encodes cystinosin ...
Francesco, Bellomo   +6 more
openaire   +2 more sources

Tic, Triggering, and Tearing: From CTN to SUNHA

Headache: The Journal of Head and Face Pain, 2017
Premise Classical trigeminal neuralgia (CTN) and the short‐lasting unilateral neuralgiform headache attacks (SUNHA) are clinically similar. Problem The SUNHAs include short‐lasting unilateral neuralgiform headache attacks with ...
R, Benoliel   +3 more
openaire   +2 more sources

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