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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. The most common form of cystinosis, the nephropathic or infantile type, is characterized by renal failure at 10 ...
Yair Anikster, Vorasuk Shotelersuk, William A Gahl   +2 more
exaly   +5 more sources

Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]

Pediatric 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.
Anna Taranta, Martijn J Wilmer, L P Van den Heuvel   +2 more
exaly   +5 more sources

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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, R, Lemons, Y, Anikster, J, Mullet, K, Paelicke, C, Lucero, W, Gahl, J, Schneider, S G, Shu, H T, Campbell   +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, Serena, Corallini, Anna, Pastore, Alessia, Palma, Chiara, Laurenzi, Francesco, Emma, Anna, Taranta   +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, Y, Sharav, Y, Haviv, G, Almoznino   +3 more
openaire   +2 more sources

ENVIRONMENTAL MONITORING WITH PASSIVE DETECTORS AT CTN IN PORTUGAL

Radiation Protection Dosimetry, 2015
The 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, J, Pereira, S, Rangel, M, Saraiva, L M, Santos, J V, Cardoso, J G, Alves   +6 more
openaire   +2 more sources

CTNS Mutations in African American Patients with Cystinosis

Molecular Genetics and Metabolism, 2001
Cystinosis, 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, Y, Anikster, C, Lucero, V, Shotelersuk, M, Huizing, I, Bernardini, M, Park, J, Thoene, J, Schneider, W A, Gahl   +9 more
openaire   +2 more sources

Can cMyc challenge cTn?

Laboratory Medicine
Abstract Introduction The early diagnosis of acute coronary syndrome remains challenging, with high-sensitivity cardiac troponin (hs-cTn) exhibiting limitations in the first 3 hours after symptom onset. Cardiac myosin-binding protein C (cMyc) shows promise as an earlier, more specific biomarker.
Qing Li, Chu-jun Yang, Rui Feng, Xiao-hui Liu, Zhen-lu Zhang   +4 more
openaire   +2 more sources