Results 31 to 40 of about 1,581 (148)
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
Frontiers in Pediatrics, 2022 ObjectiveTo report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population.MethodsRetrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis.ResultsA ...
Yu-Jia Guan +10 more
doaj +1 more source
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis
Cells, 2021 Nephropathic cystinosis is a rare disease caused by mutations of the CTNS gene that encodes for cystinosin, a lysosomal cystine/H+ symporter. The disease is characterized by early-onset chronic kidney failure and progressive development of extra-renal ...
Anna Taranta +19 more
doaj +1 more source
Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS [PDF]
Pediatric Research, 1999 Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene ...
Yair Anikster +7 more
openaire +1 more source
CTNS molecular genetics profile in a Persian nephropathic cystinosis population
Nefrología, 2017 Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi +7 more
doaj +3 more sources
WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS
Kidney International ReportsVishnu Dev +11 more
doaj +2 more sources
CellsCystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
Louise Medaer +5 more
doaj +1 more source
Horizontal gene transfer of conjugative transposons Tn916
上海师范大学学报. 自然科学版, 2022 Horizontal gene transfer (HGT) greatly improves the adaptability of bacteria to the environment, and promotes the evolution of bacteria. Genomic islands (GEIs) are the gene fragments obtained by HGT in prokaryotes.
LIU Tianren, SONG Lei
doaj +1 more source
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Eurasian Journal of Medicine, 2019 Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene.
Hakan Doneray +4 more
doaj +1 more source
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Diagnostic Pathology, 2022 Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities.
Latifa Chkioua +13 more
doaj +1 more source
PLoS ONE, 2011 BackgroundClostridium difficile is the leading cause of hospital-associated diarrhoea in the US and Europe. Recently the incidence of C. difficile-associated disease has risen dramatically and concomitantly with the emergence of 'hypervirulent' strains ...
Michael S M Brouwer +4 more
doaj +1 more source