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CTNS mutations in patients with cystinosis† [PDF]
Human 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.
Vorasuk Shotelersuk +2 more
exaly +5 more sources
Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]
Pediatric Nephrology, 2010 Contains fulltext : 88158.pdf (Publisher’s version ) (Open Access)Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter.
Francesco Emma +2 more
exaly +6 more sources
CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population () [PDF]
Open Journal of Genetics, 2018 Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene.
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Mutations of CTNS Causing Intermediate Cystinosis
Molecular Genetics and Metabolism, 1999Six 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, 2010The 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, 2017Premise 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
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The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]
American Journal of Human Genetics, 2001 Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter constructs of sequences 5′ to the CTNS coding sequence,
William A Gahl +2 more
exaly +2 more sources
CTNS Mutations in African American Patients with Cystinosis
Molecular Genetics and Metabolism, 2001Cystinosis, an autosomal recessive lysosomal storage disorder, is rarely diagnosed in African Americans. The disease results from mutations in the gene CTNS; at least 55 such mutations have been reported. By far the most common is a 57,257-bp deletion of Northern European origin encompassing most of the CTNS gene.
R, Kleta +9 more
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ENVIRONMENTAL MONITORING WITH PASSIVE DETECTORS AT CTN IN PORTUGAL
Radiation Protection Dosimetry, 2015The aim of this work is to present the methods in use for environmental dose assessment with passive detectors at Campus Tecnológico e Nuclear (CTN) of Instituto Superior Técnico, in Portugal. The methods are based on LiF:Mg,Ti (TLD-100) detectors inserted in Harshaw holders placed at four locations and exchanged on a quarterly basis.
M F, Pereira +6 more
openaire +2 more sources