192 related articles for article (PubMed ID: 11505338)
1. 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
Am J Hum Genet; 2001 Oct; 69(4):712-21. PubMed ID: 11505338
[TBL] [Abstract][Full Text] [Related]
2. 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
Genome Res; 2000 Feb; 10(2):165-73. PubMed ID: 10673275
[TBL] [Abstract][Full Text] [Related]
3. Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S; Al-Rababah B; Hazza I; Akl K; Saca E; Al-Younis D
Nefrologia; 2015; 35(6):547-53. PubMed ID: 26565940
[TBL] [Abstract][Full Text] [Related]
4. CTNS mutations in patients with cystinosis.
Anikster Y; Shotelersuk V; Gahl WA
Hum Mutat; 1999; 14(6):454-8. PubMed ID: 10571941
[TBL] [Abstract][Full Text] [Related]
5. Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M; Schickel J; Gönne Bv; Koch HG; Superti-Furga A; Steinmann B; Deufel T; Harms E
Hum Mutat; 2002 Sep; 20(3):237. PubMed ID: 12204010
[TBL] [Abstract][Full Text] [Related]
6. 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
Mol Genet Metab; 2001 Nov; 74(3):332-7. PubMed ID: 11708862
[TBL] [Abstract][Full Text] [Related]
7. 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
Hum Genet; 2004 Nov; 115(6):510-4. PubMed ID: 15365816
[TBL] [Abstract][Full Text] [Related]
8. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L
BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123
[TBL] [Abstract][Full Text] [Related]
9. 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
Hum Mutat; 2008 Apr; 29(4):532-6. PubMed ID: 18186520
[TBL] [Abstract][Full Text] [Related]
10. 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
Hum Mutat; 2002 Dec; 20(6):439-46. PubMed ID: 12442267
[TBL] [Abstract][Full Text] [Related]
11. 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
Am J Hum Genet; 1998 Nov; 63(5):1352-62. PubMed ID: 9792862
[TBL] [Abstract][Full Text] [Related]
12. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Attard M; Jean G; Forestier L; Cherqui S; van't Hoff W; Broyer M; Antignac C; Town M
Hum Mol Genet; 1999 Dec; 8(13):2507-14. PubMed ID: 10556299
[TBL] [Abstract][Full Text] [Related]
13. Analysis of CTNS gene transcripts in nephropathic cystinosis.
Taranta A; Wilmer MJ; van den Heuvel LP; Bencivenga P; Bellomo F; Levtchenko EN; Emma F
Pediatr Nephrol; 2010 Jul; 25(7):1263-7. PubMed ID: 20352457
[TBL] [Abstract][Full Text] [Related]
14. 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
Pediatr Res; 2000 Jan; 47(1):17-23. PubMed ID: 10625078
[TBL] [Abstract][Full Text] [Related]
15. Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
Helip-Wooley A; Park MA; Lemons RM; Thoene JG
Mol Genet Metab; 2002 Feb; 75(2):128-33. PubMed ID: 11855931
[TBL] [Abstract][Full Text] [Related]
16. CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F; Hosseini R; Akouchekian M; Teimourian S; Ataei Kachoei Z; Otukesh H; Gahl WA; Behnam B
Nefrologia; 2017; 37(3):301-310. PubMed ID: 28238446
[TBL] [Abstract][Full Text] [Related]
17. Mutations of CTNS causing intermediate cystinosis.
Thoene J; Lemons R; Anikster Y; Mullet J; Paelicke K; Lucero C; Gahl W; Schneider J; Shu SG; Campbell HT
Mol Genet Metab; 1999 Aug; 67(4):283-93. PubMed ID: 10444339
[TBL] [Abstract][Full Text] [Related]
18. 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
Eur J Hum Genet; 2003 Jul; 11(7):503-8. PubMed ID: 12825071
[TBL] [Abstract][Full Text] [Related]
19. Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P; Tongkobpetch S; Kingwatanakul P; Deekajorndech T; Bernardini IM; Suphapeetiporn K; Gahl WA; Shotelersuk V
Gene; 2012 May; 499(2):323-5. PubMed ID: 22450360
[TBL] [Abstract][Full Text] [Related]
20. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Tang S; Danda S; Zoleikhaeian M; Simon M; Huang T
Genet Test Mol Biomarkers; 2009 Aug; 13(4):435-8. PubMed ID: 19580442
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]