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Items: 1 to 20 of 95

1.

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.

Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A.

Am J Hum Genet. 2002 Dec;71(6):1443-9. Epub 2002 Nov 4.

2.

[North American Indian childhood cirrhosis (NAIC)].

Richter A, Mitchell GA, Rasquin A.

Med Sci (Paris). 2007 Nov;23(11):1002-7. French.

3.

North American Indian cirrhosis in children: a review of 30 cases.

Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A.

J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):395-404.

PMID:
11045837
4.

Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.

Yu B, Mitchell GA, Richter A.

Exp Cell Res. 2005 Dec 10;311(2):218-28. Epub 2005 Oct 12.

PMID:
16225863
5.

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA.

Am J Hum Genet. 2000 Jul;67(1):222-8. Epub 2000 May 11.

6.

p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis.

Wilkins BJ, Lorent K, Matthews RP, Pack M.

PLoS One. 2013 Oct 11;8(10):e77670. doi: 10.1371/journal.pone.0077670. eCollection 2013.

7.

Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.

Yu B, Mitchell GA, Richter A.

Exp Cell Res. 2009 Nov 1;315(18):3086-98. doi: 10.1016/j.yexcr.2009.08.017. Epub 2009 Sep 2.

PMID:
19732766
8.

NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.

Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ.

PLoS Genet. 2012;8(8):e1002892. doi: 10.1371/journal.pgen.1002892. Epub 2012 Aug 16.

9.

Molecular basis of intrahepatic cholestasis.

Carlton VE, Pawlikowska L, Bull LN.

Ann Med. 2004;36(8):606-17. Review.

PMID:
15768832
10.

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Degiorgio D, Colombo C, Seia M, Porcaro L, Costantino L, Zazzeron L, Bordo D, Coviello DA.

Eur J Hum Genet. 2007 Dec;15(12):1230-8. Epub 2007 Aug 29.

11.

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Tuson M, Marfany G, Gonzàlez-Duarte R.

Am J Hum Genet. 2004 Jan;74(1):128-38. Epub 2003 Dec 16.

12.

The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.

Freed EF, Baserga SJ.

Nucleic Acids Res. 2010 Aug;38(14):4798-806. doi: 10.1093/nar/gkq185. Epub 2010 Apr 12.

13.

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Ali M, Ramprasad VL, Soumittra N, Mohamed MD, Jafri H, Rashid Y, Danciger M, McKibbin M, Kumaramanickavel G, Inglehearn CF.

Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30.

14.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
15.

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR.

Am J Med Genet A. 2006 Mar 15;140(6):558-66.

PMID:
16470690
16.

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.

Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M.

Pediatr Nephrol. 2005 Dec;20(12):1724-8. Epub 2005 Oct 20.

PMID:
16237566
17.

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH.

Am J Hum Genet. 1998 Jun;62(6):1312-9.

19.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386
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