Cystinosis, nephropathic
The protein product of the CTNS gene is a lysosomal cystin transporter. If defective a lysosomal storage disorder results that is called cystinosis.
Genetests:
Related Diseases:
References:
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Forestier L et al. (1999) Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
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2. |
Wamelink MM et al. (2008) Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
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3. |
Bendavid C et al. (2004) FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
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4. |
Kalatzis V et al. (2004) Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
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5. |
Cherqui S et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
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6. |
Rupar CA et al. (2001) A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.
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7. |
Phornphutkul C et al. (2001) 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.
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8. |
Anikster Y et al. (2000) Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
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9. |
Thoene J et al. (1999) Mutations of CTNS causing intermediate cystinosis.
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10. |
Shotelersuk V et al. (1998) CTNS mutations in an American-based population of cystinosis patients.
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11. |
Town M et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
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12. |
Mason S et al. (2003) Mutational spectrum of the CTNS gene in Italy.
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13. |
Kalatzis V et al. (2002) Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
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14. |
Gahl WA et al. (2002) Cystinosis.
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15. |
Touchman JW et al. (2000) The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
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16. |
Attard M et al. (1999) Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
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17. |
McGowan-Jordan J et al. (1999) Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
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18. |
Bois E et al. (1976) Infantile cystinosis in France: genetics, incidence, geographic distribution.
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19. |
Orphanet article
Orphanet ID 120884
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20. |
NCBI article
NCBI 1497
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21. |
OMIM.ORG article
Omim 606272
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22. |
Wikipedia article
Wikipedia EN (CTNS_(gene))
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Update: Aug. 14, 2020