PubMed (OMIM) for id: 1497

Year	Number of Results
1955	1
1958	4
1966	1
1967	1
1968	1
1970	4
1971	4
1974	1
1976	1
1977	3
1978	1
1981	2
1982	4
1984	2
1985	3
1987	7
1988	4
1990	1
1991	1
1992	2
1993	1
1994	1
1995	1
1996	1
1998	2
1999	4
2000	3
2001	2
2002	3
2003	1
2004	2
2006	1
2007	1
2008	1
2009	1
2012	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

LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis.

Liu B, Du H, Rutkowski R, Gartner A, Wang X. Liu B, et al. Science. 2012 Jul 20;337(6092):351-4. doi: 10.1126/science.1220281. Science. 2012. PMID: 22822152 Free PMC article.

4

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.

5

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

6

Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.

Trauner DA, Spilkin AM, Williams J, Babchuck L. Trauner DA, et al. J Pediatr. 2007 Aug;151(2):192-6. doi: 10.1016/j.jpeds.2007.02.062. Epub 2007 Jun 22. J Pediatr. 2007. PMID: 17643777 Free PMC article.

7

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI. Tsilou ET, et al. Ophthalmology. 2006 Jun;113(6):1002-9. doi: 10.1016/j.ophtha.2005.12.026. Epub 2006 Apr 17. Ophthalmology. 2006. PMID: 16603246

8

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

9

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

10

[Unusual case of crystalline degeneration of the cornea].

BURKI E, ROHNER M. BURKI E, et al. Ophthalmologica. 1955 Apr-May;129(4-5):211-7. doi: 10.1159/000302518. Ophthalmologica. 1955. PMID: 14394617 German. No abstract available.

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