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Items: 1 to 20 of 121

1.

Functional analysis of human mutations in homeodomain transcription factor PITX3.

Sakazume S, Sorokina E, Iwamoto Y, Semina EV.

BMC Mol Biol. 2007 Sep 21;8:84.

2.

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.

3.

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC.

Nat Genet. 1998 Jun;19(2):167-70.

PMID:
9620774
4.

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E.

Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26.

5.

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV.

Mol Vis. 2010 Aug 22;16:1705-11.

6.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.

PMID:
16565358
7.

Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.

Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J.

Hum Mol Genet. 2000 Jul 1;9(11):1575-85.

8.

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.

Sorokina EA, Muheisen S, Mlodik N, Semina EV.

PLoS One. 2011;6(6):e21122. doi: 10.1371/journal.pone.0021122. Epub 2011 Jun 17.

9.

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS.

Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5.

PMID:
21836522
10.

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

Chograni M, Chaabouni M, Chelly I, Helayem MB, Chaabouni-Bouhamed H.

Mol Vis. 2010 Apr 3;16:582-5.

11.

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR.

Nat Genet. 2000 Aug;25(4):397-401.

PMID:
10932181
12.

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, Walter MA, Héon E.

Hum Mol Genet. 2001 Aug 1;10(16):1631-8.

13.

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene.

Addison PK, Berry V, Ionides AC, Francis PJ, Bhattacharya SS, Moore AT.

Br J Ophthalmol. 2005 Feb;89(2):138-41.

14.

Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.

Wada K, Matsushima Y, Tada T, Hasegawa S, Obara Y, Yoshizawa Y, Takahashi G, Hiai H, Shimanuki M, Suzuki S, Saitou J, Yamamoto N, Ichikawa M, Watanabe K, Kikkawa Y.

PLoS One. 2014 Oct 27;9(10):e111432. doi: 10.1371/journal.pone.0111432. eCollection 2014.

15.

Developmental genetics in ophthalmology.

Graw J, Löster J.

Ophthalmic Genet. 2003 Mar;24(1):1-33. Review.

PMID:
12660863
16.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

18.

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.

Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M.

Hum Mol Genet. 2001 Feb 1;10(3):231-6.

19.

Zebrafish pitx3 is necessary for normal lens and retinal development.

Shi X, Bosenko DV, Zinkevich NS, Foley S, Hyde DR, Semina EV, Vihtelic TS.

Mech Dev. 2005 Apr;122(4):513-27. Epub 2004 Dec 10.

20.

Pitx3 directly regulates Foxe3 during early lens development.

Ahmad N, Aslam M, Muenster D, Horsch M, Khan MA, Carlsson P, Beckers J, Graw J.

Int J Dev Biol. 2013;57(9-10):741-51. doi: 10.1387/ijdb.130193jg.

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