Novel truncating mutation in the CTNS gene in an Egyptian family with cases of infantile nephropathic cystinosis and congenital heart malformations [PDF]
Middle East Journal of Medical Genetics, 2012 Mohammad Al-Haggar +5 more
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Urine-Derived Kidney Progenitor Cells in Cystinosis
Cells, 2022 Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys +15 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2020 Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Wai W. Cheung +12 more
doaj +1 more source
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]
The American Journal of Human Genetics, 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, we identified the CTNS promoter as the region encompassing nucleotides -316 to +1 with respect to ...
Chanika Phornphutkul +6 more
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BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 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
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
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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
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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
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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
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