Results 91 to 100 of about 2,755 (211)
Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations
Saudi Journal of Kidney Diseases and TransplantationBackground: Nephropathic cystinosis (NC) is an autosomal recessive disease. Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are identified as the molecular basis of cystinosis.
Zeinab Youssef Abdallah +10 more
doaj +1 more source
Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.HO‐1 acts as a context‐dependent regulator of pigmentation, enhancing tyrosinase activity and melanin accumulation in melanoma cells while having no detectable effect on pigmentation in the non‐malignant melanocyte models tested. ABSTRACT Melanogenesis is a defining feature of melanocyte biology and influences melanoma pathogenesis; however, tumor ...
Agnieszka Seretny +13 more
wiley +1 more source
, 2001 Although >55 CTNS mutations occur in patients with the lysosomal storage disorder cystinosis, no regulatory mutations have been reported, because the promoter has not been defined. Using CAT reporter constructs of sequences 5′ to the CTNS coding sequence,
Braun, Paula +6 more
core +1 more source
Biology Open, 2016 Cystine and cysteine are important molecules for pathways such as redox signaling and regulation, and thus identifying cellular deficits upon deletion of the Saccharomyces cerevisiae cystine transporter Ers1p allows for a further understanding of cystine
Jessica A. Simpkins +10 more
doaj +1 more source
Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns−/− knockout mouse [PDF]
, 2011 PurposeThe purpose of this study was to assess the ability of quantitative in vivo confocal microscopy to characterize the natural history and detect changes in crystal volume in corneas from a novel animal model of cystinosis, the cystinosin (Ctns ...
Nien, Chyong Jy +5 more
core
, 2019 A. Half-cystine per mg protein after 72-hour exposure to ELX-02 (200 and 400 μg/mL) was 53% of untreated baseline. B. CTNS transcript levels (RT-qPCR) were increased in CTNSW138X/del57kl fibroblasts treated with ELX-02 (200 and 400 μg/mL) for 72 h ...
Pedro Huertas (4891903) +9 more
core +1 more source
Clinical Use and Measurement of Cardiac Troponin (cTn)
Proceedings of Singapore Healthcare, 2012 Cardiac troponins are cardio-specific and are widely used for the early diagnosis and triage of patients with acute coronary syndromes in conjunction with clinical history, electrocardiographic changes and imaging. Troponin is also useful for the prediction of outcomes in acute coronary syndromes, renal failure, sepsis, and critically ill patients. New
Clementine YF Yap MSc, DLM (ASCP) +2 more
openaire +2 more sources
Problems in comparing tobacco regulatory models and excise when only two countries are considered
Addiction, EarlyView.
Simon Chapman, Sam Egger, Becky Freeman
wiley +1 more source
CTNS protein and mRNA levels in human fibroblasts.
, 2019 Wildtype (MCH070) and CTNSW138X/W138X fibroblasts (WG1012) treated with ELX-02. A. Densitometry of immunoblots for CTNS in CTNSW138X/W138X fibroblasts after 48-hour treatment with ELX-02 (400 μg/mL). B.
Pedro Huertas (4891903) +9 more
core +1 more source
A case of ocular cystinosis associated with two potentially severe CTNS mutations
, 2019 \ua9 2019, \ua9 2019 Taylor & Francis Group, LLC. Background: Ocular cystinosis is a rare autosomal recessive disorder caused by one severe and one mild mutation in the CTNS gene.
Sayer JA +7 more
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