Results 161 to 170 of about 9,680 (207)

Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

Molecular Genetics and Metabolism, 2002
J G Thoene
exaly   +2 more sources

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis

Human Genetics, 2004
Robert Kleta, William Gahl, Maximilian Muenke   +2 more
exaly   +2 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, 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

Inducible nitric oxide synthase inhibitor 1400W increases Na+,K+‐ATPase levels and activity and ameliorates mitochondrial dysfunction in Ctns null kidney proximal tubular epithelial cells

Clinical and Experimental Pharmacology and Physiology, 2018
Nitric oxide (NO) has been shown to play an important role in renal physiology and pathophysiology partly through its influence on various transport systems in the kidney proximal tubule.
R. Sumayao, P. Newsholme, T. McMorrow
semanticscholar   +1 more source

Characterization of CTNS mutations in Arab patients with Cystinosis

Ophthalmic Genetics, 2009
Cystinosis is an autosomal recessive disease characterized by impaired transport of free cystine out of lysosomes with resulting renal and ophthalmic manifestations. Mutations in CTNS, encoding cystinosin, are the only known cause of this autosomal recessive disorder with more than 85 different mutations described so far.To identify CTNS mutations in ...
Mohammed A. Aldahmesh, Amal Humeidan, H. Almojalli, Arif O. Khan, M. Rajab, A. Al-Abbad, Brian F. Meyer, F. Alkuraya   +7 more
semanticscholar   +3 more sources

A case of ocular cystinosis associated with two potentially severe CTNS mutations

Ophthalmic Genetics, 2019
Background: Ocular cystinosis is a rare autosomal recessive disorder caused by one severe and one mild mutation in the CTNS gene. It is characterised by cystine deposition within the cornea and conjunctiva however, the kidneys are not affected. We report
A. Browning, Gustavo S Figueiredo, O. Baylis, Emma K Montgomery, C. Beesley, E. Molinari, F. Figueiredo, J. Sayer   +7 more
semanticscholar   +1 more source

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

CTNs˜a voluntary group solution?

Retail and Distribution Management, 1973
The failure of independents in non‐food sectors to adapt themselves to the voluntary group structure has been one of the features of the recent retail scene. But now there are signs of interesting activity in the confectionery/tobacco/news field. Independent CTNs are subject to pressures from both ends of the spectrum — not only from supermarkets but ...
openaire   +1 more source