PubMed (cited) for id: 606272

Year	Number of Results
1976	1
1998	2
1999	4
2000	2
2001	2
2002	3
2003	1
2004	2
2008	1
2009	1
2016	1
2021	1
2024	0

1

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model.

Goodman S, Khan M, Sharma J, Li Z, Cano J, Castellanos C, Estrada MV, Gertsman I, Cherqui S. Goodman S, et al. Mol Genet Metab. 2021 Dec;134(4):309-316. doi: 10.1016/j.ymgme.2021.11.006. Epub 2021 Nov 17. Mol Genet Metab. 2021. PMID: 34823997 Free PMC article.

2

TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion.

Buntinx L, Voets T, Morlion B, Vangeel L, Janssen M, Cornelissen E, Vriens J, de Hoon J, Levtchenko E. Buntinx L, et al. Sci Rep. 2016 Oct 13;6:35395. doi: 10.1038/srep35395. Sci Rep. 2016. PMID: 27734949 Free PMC article.

3

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ. Macías-Vidal J, et al. Clin Genet. 2009 Nov;76(5):486-9. doi: 10.1111/j.1399-0004.2009.01222.x. Clin Genet. 2009. PMID: 19863563 No abstract available.

4

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA. Wamelink MM, et al. Hum Mutat. 2008 Apr;29(4):532-6. doi: 10.1002/humu.20685. Hum Mutat. 2008. PMID: 18186520

5

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA. Bendavid C, et al. Hum Genet. 2004 Nov;115(6):510-4. doi: 10.1007/s00439-004-1170-2. Epub 2004 Sep 9. Hum Genet. 2004. PMID: 15365816

6

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Kalatzis V, et al. Hum Mol Genet. 2004 Jul 1;13(13):1361-71. doi: 10.1093/hmg/ddh152. Epub 2004 May 5. Hum Mol Genet. 2004. PMID: 15128704

7

Mutational spectrum of the CTNS gene in Italy.

Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M. Mason S, et al. Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993. Eur J Hum Genet. 2003. PMID: 12825071

8

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C. Kalatzis V, et al. Hum Mutat. 2002 Dec;20(6):439-46. doi: 10.1002/humu.10141. Hum Mutat. 2002. PMID: 12442267

9

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C. Cherqui S, et al. Mol Cell Biol. 2002 Nov;22(21):7622-32. doi: 10.1128/MCB.22.21.7622-7632.2002. Mol Cell Biol. 2002. PMID: 12370309 Free PMC article.

10

Cystinosis.

Gahl WA, Thoene JG, Schneider JA. Gahl WA, et al. N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552. N Engl J Med. 2002. PMID: 12110740 Review. No abstract available.

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