Anikster Y - Search Results

1

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Anikster Y, et al. Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007. Pediatr Res. 2000. PMID: 10625078

2

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Huizing M, et al. Among authors: anikster y. Pediatr Res. 2002 Feb;51(2):150-8. doi: 10.1203/00006450-200202000-00006. Pediatr Res. 2002. PMID: 11809908

3

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: anikster y. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

4

CTNS mutations in an American-based population of cystinosis patients.

Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. Shotelersuk V, et al. Among authors: anikster y. Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118. Am J Hum Genet. 1998. PMID: 9792862 Free PMC article.

5

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Anikster Y, et al. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

6

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.

7

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.

Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. Touchman JW, et al. Among authors: anikster y. Genome Res. 2000 Feb;10(2):165-73. doi: 10.1101/gr.10.2.165. Genome Res. 2000. PMID: 10673275 Free PMC article.

8

Pulmonary dysfunction in adults with nephropathic cystinosis.

Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, Gahl WA. Anikster Y, et al. Chest. 2001 Feb;119(2):394-401. doi: 10.1378/chest.119.2.394. Chest. 2001. PMID: 11171714

9

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.

Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. Phornphutkul C, et al. Among authors: anikster y. Am J Hum Genet. 2001 Oct;69(4):712-21. doi: 10.1086/323484. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505338 Free PMC article.

10

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA. Kleta R, et al. Among authors: anikster y. Am J Med Genet A. 2003 Jul 1;120A(1):28-33. doi: 10.1002/ajmg.a.20024. Am J Med Genet A. 2003. PMID: 12794688

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