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Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 04/2019, Volume 32, Issue 4, pp. 375 - 382
Background: Cystinosis is a rare autosomal-recessive disorder caused by a defective transport of cystine across the lysosomal membrane. Previous studies have... 
mutation | treatment | Chinese | cystinosis | CTNS mutation | GROWTH-HORMONE | ENDOCRINOLOGY & METABOLISM | PEDIATRICS
Journal Article
Gene, ISSN 0378-1119, 05/2012, Volume 499, Issue 2, pp. 323 - 325
Cystinosis is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in renal, ophthalmic,... 
Cystinosis | CTNS | Thai | Novel mutations | GENE | GENETICS & HEREDITY | NEPHROPATHIC CYSTINOSIS | Point Mutation | DNA Mutational Analysis | Humans | Adolescent | Child, Preschool | Cystinosis - genetics | Infant | Mutation, Missense | Thailand | Child | Amino Acid Transport Systems, Neutral - genetics | Genetic research | Genetic aspects | Gene mutations | Analysis | Genes
Journal Article
BMC NEPHROLOGY, ISSN 1471-2369, 10/2019, Volume 20, Issue 1, pp. 1 - 6
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body.... 
PATHOGENESIS | GENE | CYSTEAMINE THERAPY | mRNA analysis | UROLOGY & NEPHROLOGY | CTNS | Nephropathic cystinosis | ACCUMULATION | Fanconi syndrome
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2015, Volume 5, Issue C, pp. 63 - 66
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not... 
Cystinosis | CTNS | Coriell Cell Repository | Mutation | Splicing | Sequencing
Journal Article
Clinical Case Reports, ISSN 2050-0904, 09/2018, Volume 6, Issue 9, pp. 1871 - 1876
Key Clinical Message We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight... 
CTNS gene | exome sequencing | Fanconi syndrome | nephropathic cystinosis | cystine | Babies | Pediatrics | Nephrology | Congenital diseases | Amino acids | Mutation | Medical diagnosis | Autoimmune diseases
Journal Article
Human Mutation, ISSN 1059-7794, 12/1999, Volume 14, Issue 6, pp. 454 - 458
Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and... 
cystinosis | transport | variants | lysosomal storage disease | deletions | Cystinosis | Variants | Lysosomal storage disease | Transport | Deletions | CTNS gene | cystinosin
Journal Article
Meta Gene, ISSN 2214-5400, 09/2015, Volume 5, pp. 144 - 149
Nephropathic cystinosis (NC) is an autosomal recessive disorder characterized by defective transport of cystine across the lysosomal membrane and resulting in... 
Mutations | Tunisian families | CTNS | Nephropathic cystinosis | Prenatal diagnosis | Polymorphisms
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 3442 - 13
Cystinosin, a lysosomal transporter is involved in the efflux of cystine from the lysosome to the cytosol. Mutations in the human cystinosin gene (CTNS) cause... 
DEUBIQUITINATING ENZYME | CTNS MUTATIONS | YEAST | ENCODES | TRANSPORTER | MULTIDISCIPLINARY SCIENCES | REQUIRES | NEPHROPATHIC CYSTINOSIS | SACCHAROMYCES-CEREVISIAE | PLASMA-MEMBRANE | MOLECULAR ANALYSIS | Studies | Cystinosis | Proteins | Genetic analysis | Kinetics | Mutation | Protein transport | Cytosol | Genetic screening | Hereditary diseases
Journal Article
Turkish Journal of Pediatrics, ISSN 0041-4301, 2016, Volume 58, Issue 4, pp. 362 - 370
We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular... 
Cystinosis | Mutations | CTNS | Fanconi syndrome | Cystinosin | CTNS MUTATIONS | cystinosis | mutations | GENE | PEDIATRICS | NEPHROPATHIC CYSTINOSIS | cystinosin | Humans | Child, Preschool | Cystinosis - genetics | Genotype | Infant | Male | Amino Acid Transport Systems, Neutral - genetics | Young Adult | Phenotype | Turkey | Pedigree | Adolescent | Female | Mutation | Child
Journal Article
Journal Article