Results 61 to 70 of about 3,017 (208)
Two novel CTNS mutations in cystinosis patients in Thailand [PDF]
Gene, 2012 Cystinosis is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic, and other organ abnormalities. Mutations in the CTNS gene cause a deficiency of the transport protein, cystinosin.
Patra, Yeetong +7 more
openaire +2 more sources
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
PM&R, EarlyView.Abstract Exertional heat illness (EHI) and exertional rhabdomyolysis (ER) are increasingly recognized causes of morbidity in competitive and tactical athletes. Cardiac troponin (cTn) elevation, traditionally viewed as a marker of myocardial necrosis, may also be seen in these settings and can create significant diagnostic and prognostic uncertainty ...
John‐Henry L. Dean +2 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
Genomics, Proteomics & Bioinformatics, 2017 Dietary phenolic compounds (PCs) have been receiving interest for their presumed roles in disease prevention. However, there is a lack of studies on the underlying molecular mechanisms. In this regard, in vitro metabolomic approaches are suitable for the
Úrsula Catalán +4 more
doaj +1 more source
Addiction, EarlyView.Abstract Background & Aims There are few effective treatments for methamphetamine use disorder, despite increasing global demand. Here, we assessed the safety and feasibility of outpatient psilocybin‐assisted psychotherapy for methamphetamine use disorder. Design Single arm, open label pilot study.
Elizabeth Knock +8 more
wiley +1 more source
Outdated tools, underestimated harm: Modernizing cannabis surveillance in a post‐legalization era
Addiction, EarlyView.Abstract Background Canada's 2018 legalization of non‐medical cannabis was positioned as a public health initiative, intended to shift cannabis use from criminalization to regulation. Since then, cannabis access and consumption have grown significantly but the systems used to monitor cannabis‐related harms have not kept pace.
Anees Bahji
wiley +1 more source
Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model [PDF]
, 2012 OBJECTIVE: To study the pathogenesis of male infertility in cystinosis due to nonobstructive azoospermia, using a Ctns(-/-) mouse model. DESIGN: Observational case-control study. SETTING: Academic research laboratory.
Courtoy, Pierre J +14 more
core +1 more source
Nature Communications, 2023 Differentiation is critical for cell fate decisions, but the signals involved remain unclear. The kidney proximal tubule (PT) cells reabsorb disulphide-rich proteins through endocytosis, generating cystine via lysosomal proteolysis.
Marine Berquez +11 more
doaj +1 more source
Addiction, EarlyView.Abstract Background and aims Individuals who engage in illicit or nonmedical opioid use may have elevated risk of health and social consequences, including progression to opioid use disorder (OUD). Preventive interventions to reduce this risk are lacking. This trial tested the impact of a primary care‐integrated collaborative care approach for reducing
Jennifer McNeely +23 more
wiley +1 more source