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Results: 15

Select item 231696671.

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.

Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, Journet A, André B, Gasnier B.

Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20. Erratum in: Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197.

PMID:: 23169667; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 222097182.

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family.

Kiehntopf M, Varga RE, Koch HG, Beetz C.

Gene. 2012 Mar 1;495(1):89-92. doi: 10.1016/j.gene.2011.12.005. Epub 2011 Dec 24.

PMID:: 22209718; [PubMed - indexed for MEDLINE]

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Select item 219836363.

Dissecting molecular events in thyroid neoplasia provides evidence for distinct evolution of follicular thyroid adenoma and carcinoma.

Krause K, Prawitt S, Eszlinger M, Ihling C, Sinz A, Schierle K, Gimm O, Dralle H, Steinert F, Sheu SY, Schmid KW, Fuhrer D.

Am J Pathol. 2011 Dec;179(6):3066-74. doi: 10.1016/j.ajpath.2011.08.033. Epub 2011 Oct 6.

PMID:: 21983636; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 218767354.

Genetic organisation, mobility and predicted functions of genes on integrated, mobile genetic elements in sequenced strains of Clostridium difficile.

Brouwer MS, Warburton PJ, Roberts AP, Mullany P, Allan E.

PLoS One. 2011;6(8):e23014. doi: 10.1371/journal.pone.0023014. Epub 2011 Aug 18.

PMID:: 21876735; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 217861425.

Genetic basis of cystinosis in Turkish patients: a single-center experience.

Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA.

Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.

PMID:: 21786142; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 215533236.

Natural history of adolescent-onset cystinosis.

Midgley JP, El-Kares R, Mathieu F, Goodyer P.

Pediatr Nephrol. 2011 Aug;26(8):1335-7. doi: 10.1007/s00467-011-1904-z. Epub 2011 May 8.

PMID:: 21553323; [PubMed - indexed for MEDLINE]

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Select item 215088827.

Transcriptional and posttranscriptional regulation of the CTNS gene.

Corallini S, Taranta A, Bellomo F, Palma A, Pastore A, Emma F.

Pediatr Res. 2011 Aug;70(2):130-5. doi: 10.1038/pr.2011.355.

PMID:: 21508882; [PubMed - indexed for MEDLINE]

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Select item 200794248.

Modulation of CTNS gene expression by intracellular thiols.

Bellomo F, Corallini S, Pastore A, Palma A, Laurenzi C, Emma F, Taranta A.

Free Radic Biol Med. 2010 Apr 1;48(7):865-72. doi: 10.1016/j.freeradbiomed.2010.01.011. Epub 2010 Jan 14.

PMID:: 20079424; [PubMed - indexed for MEDLINE]

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Select item 195804429.

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. doi: 10.1089/gtmb.2008.0156.

PMID:: 19580442; [PubMed - indexed for MEDLINE]

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Select item 1895625310.

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

Velázquez-Aragón J, Alcántara-Ortigoza MA, Vela-Amieva M, Monroy S, Martínez-Cruz V, Todd-Quiñones C, González-del Angel A.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S333-7. doi: 10.1007/s10545-008-0905-y. Epub 2008 Oct 29.

PMID:: 18956253; [PubMed - indexed for MEDLINE]

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Select item 1875244911.

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

Alcántara-Ortigoza MA, Belmont-Martínez L, Vela-Amieva M, González-Del Angel A.

Genet Test. 2008 Sep;12(3):409-14. doi: 10.1089/gte.2008.0014.

PMID:: 18752449; [PubMed - indexed for MEDLINE]

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Select item 1833754612.

Identification and subcellular localization of a new cystinosin isoform.

Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F.

Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. doi: 10.1152/ajprenal.00413.2007. Epub 2008 Mar 12.

PMID:: 18337546; [PubMed - indexed for MEDLINE]

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Select item 1818652013.

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. doi: 10.1002/humu.20685.

PMID:: 18186520; [PubMed - indexed for MEDLINE]

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Select item 1536581614.

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. Epub 2004 Sep 9.

PMID:: 15365816; [PubMed - indexed for MEDLINE]

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Select item 1506862415.

Lack of correlation for sodium iodide symporter mRNA and protein expression and analysis of sodium iodide symporter promoter methylation in benign cold thyroid nodules.

Neumann S, Schuchardt K, Reske A, Reske A, Emmrich P, Paschke R.

Thyroid. 2004 Feb;14(2):99-111.

PMID:: 15068624; [PubMed - indexed for MEDLINE]

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4 free full-text articles in PubMed Central

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. [Proc Natl Acad Sci U S A. 2012]
Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.
Jézégou A, Llinares E, Anne C, Kieffer-Jaquinod S, O'Regan S, Aupetit J, Chabli A, Sagné C, Debacker C, Chadefaux-Vekemans B, et al. Proc Natl Acad Sci U S A. 2012 Dec 11; 109(50):E3434-43. Epub 2012 Nov 20.
Dissecting molecular events in thyroid neoplasia provides evidence for distinct evolution of follicular thyroid adenoma and carcinoma. [Am J Pathol. 2011]
Dissecting molecular events in thyroid neoplasia provides evidence for distinct evolution of follicular thyroid adenoma and carcinoma.
Krause K, Prawitt S, Eszlinger M, Ihling C, Sinz A, Schierle K, Gimm O, Dralle H, Steinert F, Sheu SY, et al. Am J Pathol. 2011 Dec; 179(6):3066-74. Epub 2011 Oct 6.
Genetic organisation, mobility and predicted functions of genes on integrated, mobile genetic elements in sequenced strains of Clostridium difficile. [PLoS One. 2011]
Genetic organisation, mobility and predicted functions of genes on integrated, mobile genetic elements in sequenced strains of Clostridium difficile.
Brouwer MS, Warburton PJ, Roberts AP, Mullany P, Allan E. PLoS One. 2011; 6(8):e23014. Epub 2011 Aug 18.

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