Results 31 to 40 of about 1,485 (158)
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
Scientific Reports, 2022 Cystinosis is a rare disease, caused by a mutation in the gene cystinosin and characterised by the accumulation of cystine crystals. Advantages of biomaterial-mediated gene delivery include reduced safety concerns and the possibility to cure organs that ...
Valeria Graceffa
doaj +1 more source
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
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
Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder. [PDF]
PLoS ONE, 2017 BACKGROUND:Subsyndromal symptomatic depression (SSD) is a subtype of subthreshold depressive and can lead to significant psychosocial functional impairment.
Chengqing Yang +15 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
Advanced Materials, EarlyView.Carbon‐based piezoelectric materials are systematically categorized based on their structural and functional properties. The mechanisms of stress‐induced charge transfer are elucidated, and their applications are explored across three key domains: piezoelectric catalysis for energy conversion and environmental remediation, piezoelectric biomedical ...
Mude Zhu +3 more
wiley +1 more source
Frontiers in Endocrinology, 2019 Cystinosis is a lysosomal storage disorder caused by defects in CTNS, the gene that encodes the lysosomal cystine transporter cystinosin. Patients with nephropathic cystinosis are characterized by endocrine defects, defective proximal tubule cell (PTC ...
Jinzhong Zhang +6 more
doaj +1 more source
Early diagnostic value of novel biomarkers for breast cancer therapy‐related cardiac dysfunction
ESC Heart Failure, EarlyView.Our meta‐analysis revealed significant post‐treatment increases in GDF‐15, CRP, MPO, and PLGF levels (Gal‐3 unchanged) among breast cancer patients. Only elevated MPO levels were significantly associated with an increased risk of cancer therapy‐related cardiac dysfunction (CTRCD).
Zhengwei Wang +4 more
wiley +1 more source