Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201738.pdf
Reference34 articles.
1. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319.
2. McDowell GA, Gahl WA, Stephenson LA, Schneider JA, Weissenbach J, Polymeropoulos MH et al. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995; 10: 246–248.
3. Nesterova G, Gahl WA . Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 2013; 28: 51–59.
4. Kalatzis V, Cherqui S, Antignac C, Gasnier B . Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO J 2001; 20: 5940–5949.
5. Kalatzis V, Antignac C . New aspects of the pathogenesis of cystinosis. Pediatr Nephrol 2003; 18: 207–215.
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1. Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model;Cells;2024-04-06
2. CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants;Advanced Biomedical Research;2024-01
3. Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis;Pediatric Nephrology;2022-04-20
4. A no-nonsense approach to hereditary kidney disease;Pediatric Nephrology;2019-12-05
5. Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis;European Journal of Human Genetics;2019-09-30
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