Results 151 to 160 of about 2,252 (191)

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

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

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

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

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

Boletín CTN Diocean No. 1 / 2021

Boletín CTN Diocean, 2021
Con el nuevo Plan de Trabajo 2021-2025 del CTN Diocean y con un equipo de trabajo maduro y comprometido, este comité continuará con la articulación de esfuerzos y capacidades institucionales en la adecuada gestión de datos oceánicos e información marina colombiana, para facilitar el intercambio y acceso a estos recursos de la nación.
openaire   +1 more source

Embrach : (Ctn. Zürich)

1914
In der Bildmitte ist die Kirche Embrach zu ...
openaire   +1 more source

Superchoice: a voluntary group for CTNs

Retail and Distribution Management, 1977
Some three years ago the Moffat whole‐saling organisation started up a voluntary group for independent CTNs. Over 2,800 CTNs have now become members—on a national basis—and growth is continuing. In addition to favourable buying terms Moffat offer a range of services that include promotions, advice on shopfitting and training for managers.
openaire   +1 more source