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References

These sources were used to develop the Genetics Home Reference gene summary on the CTNS gene.

Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Hum Mutat. 1999;14(6):454-8. Review. PubMed citation
Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA. FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet. 2004 Nov;115(6):510-4. Epub 2004 Sep 9. PubMed citation
Entrez Gene
Haq MR, Kalatzis V, Gubler MC, Town MM, Antignac C, Van't Hoff WG, Woolf AS. Immunolocalization of cystinosin, the protein defective in cystinosis. J Am Soc Nephrol. 2002 Aug;13(8):2046-51. PubMed citation
Kalatzis V, Antignac C. Cystinosis: from gene to disease. Nephrol Dial Transplant. 2002 Nov;17(11):1883-6. Review. PubMed citation
Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet. 2004 Jul 1;13(13):1361-71. Epub 2004 May 5. PubMed citation
OMIM: CYSTINOSIN
Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C. Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407. PubMed citation
Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. 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. Genome Res. 2000 Feb;10(2):165-73. PubMed citation
Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr;18(4):319-24. PubMed citation
Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. PubMed citation


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