PubMed

PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.

Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M.

Diabetes. 2002 Jan;51(1):224-30.PMID: 11756345 [PubMed - indexed for MEDLINE]Related articlesFree article

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.PMID: 17417613 [PubMed - indexed for MEDLINE]Related articlesFree article

A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia.

Nishi M, Sasahara M, Shono T, Saika S, Yamamoto Y, Ohkawa K, Furuta H, Nakao T, Sasaki H, Nanjo K.

Diabet Med. 2005 May;22(5):641-4.PMID: 15842522 [PubMed - indexed for MEDLINE]Related articles

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.

Yuan H, Kang Y, Shao Z, Li Y, Yang G, Xu N.

Mol Vis. 2007 Aug 30;13:1555-61.PMID: 17893655 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcántara-Ortigoza MA, Jiménez DF, Ordaz JC, González-del Angel A.

Mol Vis. 2008 Sep 8;14:1650-8.PMID: 18776953 [PubMed - indexed for MEDLINE]Related articlesFree article

[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia]

Kang Y, Yuan HP, Li YY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Apr;25(2):172-5. Chinese. PMID: 18393239 [PubMed - indexed for MEDLINE]Related articles

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

Neethirajan G, Nallathambi J, Krishnadas SR, Vijayalakshmi P, Shashikanth S, Collinson JM, Sundaresan P.

BMC Ophthalmol. 2006 Jun 27;6:28.PMID: 16803629 [PubMed - indexed for MEDLINE]Related articlesFree article

PAX6 gene variations associated with aniridia in south India.

Neethirajan G, Krishnadas SR, Vijayalakshmi P, Shashikant S, Sundaresan P.

BMC Med Genet. 2004 Apr 16;5:9.PMID: 15086958 [PubMed - indexed for MEDLINE]Related articlesFree article

Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).

Wen JH, Chen YY, Song SJ, Ding J, Gao Y, Hu QK, Feng RP, Liu YZ, Ren GC, Zhang CY, Hong TP, Gao X, Li LS.

Diabetologia. 2009 Mar;52(3):504-13. Epub 2008 Nov 26.PMID: 19034419 [PubMed - indexed for MEDLINE]Related articles

A novel PAX6 gene mutation in an Indian aniridia patient.

Neethirajan G, Hanson IM, Krishnadas SR, Vijayalakshmi P, Anupkumar K, Sundaresan P.

Mol Vis. 2003 May 29;9:205-9.PMID: 12789139 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel PAX6 gene mutation in a Chinese family with aniridia.

Song S, Liu Y, Guo S, Zhang L, Zhang X, Wang S, Lu A, Li L.

Mol Vis. 2005 May 6;11:335-7.PMID: 15889018 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.

Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q.

Mol Vis. 2006 Jun 7;12:644-8.PMID: 16785853 [PubMed - indexed for MEDLINE]Related articlesFree article

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.

Ramirez-Miranda A, Zenteno JC.

Mol Vis. 2006 Apr 7;12:318-23.PMID: 16617299 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N.

Graefes Arch Clin Exp Ophthalmol. 2000 Jul;238(7):552-8.PMID: 10955655 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis of PAX6 gene in a large Chinese family with aniridia.

Song SJ, Liu YZ, Cong RC, Jin Y, Hou ZQ, Ma ZZ, Ren GC, Li LS.

Chin Med J (Engl). 2005 Feb 20;118(4):302-6.PMID: 15740668 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

Singh S, Chao LY, Mishra R, Davies J, Saunders GF.

Hum Mol Genet. 2001 Apr 15;10(9):911-8.PMID: 11309364 [PubMed - indexed for MEDLINE]Related articlesFree article

A deletion 3' to the PAX6 gene in familial aniridia cases.

D'Elia AV, Pellizzari L, Fabbro D, Pianta A, Divizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, Damante G.

Mol Vis. 2007 Jul 23;13:1245-50.PMID: 17679951 [PubMed - indexed for MEDLINE]Related articlesFree article

Three novel PAX6 mutations in patients with aniridia.

Zumkeller W, Orth U, Gal A.

Mol Pathol. 2003 Jun;56(3):180-3.PMID: 12782766 [PubMed - indexed for MEDLINE]Related articlesFree article

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V.

Hum Mol Genet. 1999 Feb;8(2):165-72.PMID: 9931324 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation in the PAX6 gene in twenty patients with aniridia.

Chao LY, Huff V, Strong LC, Saunders GF.

Hum Mutat. 2000;15(4):332-9.PMID: 10737978 [PubMed - indexed for MEDLINE]Related articles