Results 21 to 30 of about 9,680 (207)
Intermediate type cystinosis with a novel CTNS variant in a child: a case report
Journal of Rare DiseasesCystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin
exaly +2 more sources
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.
Patra Yeetong +7 more
semanticscholar +3 more sources
CTNS mutations in an American-based population of cystinosis patients. [PDF]
The American Journal of Human Genetics, 1998 Nephropathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure at 10 years of age and other systemic complications. The gene for cystinosis, CTNS, has 12 exons.
V. Shotelersuk +8 more
semanticscholar +3 more sources
Ultrasound in cervical traumatic neuromas after neck dissection in thyroid carcinoma patients: descriptive analysis and diagnostic accuracy [PDF]
Archives of Endocrinology and Metabolism, 2023 Objective: Cervical traumatic neuromas (CTNs) may appear after lateral neck dissection for metastatic thyroid carcinoma. If they are misdiagnosed as metastatic lymph nodes (LNs) in follow-up neck ultrasound (US), unnecessary and uncomfortable fine-needle
Vinicius Neves Marcos +8 more
doaj +1 more source
Biology of Cardiac Troponins: Emphasis on Metabolism
Biology, 2022 Understanding of the biology of endo- and exogenous molecules, in particular their metabolism, is not only of great theoretical importance, but also of high practical significance, since many molecules serve as drug targets or markers for the laboratory ...
Aleksey M. Chaulin
doaj +1 more source
Autophagy, 2023 Differentiation and fate decisions are critical for the epithelial cells lining the proximal tubule (PT) of the kidney, but the signals involved remain unknown.
A. Luciani, O. Devuyst
semanticscholar +1 more source
Expressibility of comb tensor network states (CTNS) for the P-cluster and the FeMo-cofactor of nitrogenase [PDF]
Electronic Structure, 2020 Polynuclear transition metal complexes such as the P-cluster and the FeMo-cofactor of nitrogenase with eight transition metal centers represent a great challenge for current electronic structure methods.
Zhendong Li
semanticscholar +1 more source
Current Issues in Molecular Biology, 2022 Cardiac troponins (cTns) have long been the most valuable and specific biomarkers for detecting ischemic myocardial cells (MCs) injury, which is one of the key signs of myocardial infarction (MI).
Aleksey Michailovich Chaulin
doaj +1 more source
CTNS mRNA as a potential treatment for nephropathic cystinosis
bioRxiv, 2023 Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to correct the genetic defect in nephropathic cystinosis using synthetic mRNA.
Tjessa Bondue +14 more
semanticscholar +1 more source