Regular ArticleCTNS Mutations in African American Patients with Cystinosis
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Cited by (29)
CTNS molecular genetics profile in a Persian nephropathic cystinosis population
2017, NefrologiaCitation Excerpt :The CTNS gene has 13 exons, but exons 3–12 are protein-coding; biallelic mutations lead to significant loss of the lysosomal cystine transporter, cystinosin.3,7–9 Approximately 200 CTNS mutations have been reported in cystinosis patients, the most common is a 57-kb deletion responsible for 50% of all the North American and Northern European cases.10–20 Here we report the CTNS mutations present in 28 Iranian patients of diverse ethnicity, providing the first molecular genetic study of cystinosis in this population.
CTNS mutations in publicly-available human cystinosis cell lines
2015, Molecular Genetics and Metabolism ReportsCitation Excerpt :In order to confirm that these mutations are the reason for observed nephropathic cystinosis diagnosis it was necessary to determine if: 1) the novel variant affects normal synthesis of cystinosin protein; 2) both variants are located on different alleles. Novel variant c.225 + 5G > A is overlapping with the previously characterized cystinosis mutation c.225 + 5GT > CC, which leads to skipping of exon 5 [9]. Therefore, we decided to check for the presence of exon 5 in GM02066 by designing primers flanking the exon borders.
Hereditary Cystinosis
2009, Genetic Diseases of the KidneyNodular regenerative hyperplasia and severe portal hypertension in cystinosis
2006, Clinical Gastroenterology and HepatologyLong-term follow-up of well-treated nephropathic cystinosis patients
2004, Journal of PediatricsCitation Excerpt :The Fanconi Syndrome Index (FSI), a quantitative measure of aminoaciduria, was determined by measuring the daily urinary excretion of 21 specific amino acids.31 Molecular studies of CTNS were performed as described.32 In short, genomic DNA was isolated from whole blood following standard procedures.
Genetic Landscape of Nephropathic Cystinosis in Russian Children
2022, Frontiers in Genetics
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