150 related articles for article (PubMed ID: 11301317)
1. Identification of a dominant negative homeodomain mutation in Rieger syndrome.
Saadi I; Semina EV; Amendt BA; Harris DJ; Murphy KP; Murray JC; Russo AF
J Biol Chem; 2001 Jun; 276(25):23034-41. PubMed ID: 11301317
[TBL] [Abstract][Full Text] [Related]
2. Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome.
Saadi I; Kuburas A; Engle JJ; Russo AF
Mol Cell Biol; 2003 Mar; 23(6):1968-82. PubMed ID: 12612071
[TBL] [Abstract][Full Text] [Related]
3. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
Amendt BA; Sutherland LB; Semina EV; Russo AF
J Biol Chem; 1998 Aug; 273(32):20066-72. PubMed ID: 9685346
[TBL] [Abstract][Full Text] [Related]
4. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome.
Espinoza HM; Cox CJ; Semina EV; Amendt BA
Hum Mol Genet; 2002 Apr; 11(7):743-53. PubMed ID: 11929847
[TBL] [Abstract][Full Text] [Related]
5. 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; 12():1448-60. PubMed ID: 17167399
[TBL] [Abstract][Full Text] [Related]
6. Multifunctional role of the Pitx2 homeodomain protein C-terminal tail.
Amendt BA; Sutherland LB; Russo AF
Mol Cell Biol; 1999 Oct; 19(10):7001-10. PubMed ID: 10490637
[TBL] [Abstract][Full Text] [Related]
7. Solution structure of the K50 class homeodomain PITX2 bound to DNA and implications for mutations that cause Rieger syndrome.
Chaney BA; Clark-Baldwin K; Dave V; Ma J; Rance M
Biochemistry; 2005 May; 44(20):7497-511. PubMed ID: 15895993
[TBL] [Abstract][Full Text] [Related]
8. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.
Hjalt TA; Amendt BA; Murray JC
J Cell Biol; 2001 Feb; 152(3):545-52. PubMed ID: 11157981
[TBL] [Abstract][Full Text] [Related]
9. Rieger syndrome: a clinical, molecular, and biochemical analysis.
Amendt BA; Semina EV; Alward WL
Cell Mol Life Sci; 2000 Oct; 57(11):1652-66. PubMed ID: 11092457
[TBL] [Abstract][Full Text] [Related]
10. An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Saadi I; Toro R; Kuburas A; Semina E; Murray JC; Russo AF
Birth Defects Res A Clin Mol Teratol; 2006 Mar; 76(3):175-81. PubMed ID: 16498627
[TBL] [Abstract][Full Text] [Related]
11. Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Banerjee-Basu S; Baxevanis AD
Hum Mutat; 1999; 14(4):312-9. PubMed ID: 10502778
[TBL] [Abstract][Full Text] [Related]
12. PITX2 gain-of-function in Rieger syndrome eye model.
Holmberg J; Liu CY; Hjalt TA
Am J Pathol; 2004 Nov; 165(5):1633-41. PubMed ID: 15509533
[TBL] [Abstract][Full Text] [Related]
13. 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; 10(16):1631-8. PubMed ID: 11487566
[TBL] [Abstract][Full Text] [Related]
14. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Borges AS; Susanna R; Carani JC; Betinjane AJ; Alward WL; Stone EM; Sheffield VC; Nishimura DY
J Glaucoma; 2002 Feb; 11(1):51-6. PubMed ID: 11821690
[TBL] [Abstract][Full Text] [Related]
15. Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.
Footz T; Idrees F; Acharya M; Kozlowski K; Walter MA
Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):2599-606. PubMed ID: 19218601
[TBL] [Abstract][Full Text] [Related]
16. Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X; Liu X; Huang L; Fang S; Jia X; Xiao X; Li S; Guo X
Curr Eye Res; 2018 Nov; 43(11):1334-1341. PubMed ID: 29939776
[TBL] [Abstract][Full Text] [Related]
17. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.
Maciolek NL; Alward WL; Murray JC; Semina EV; McNally MT
BMC Med Genet; 2006 Jul; 7():59. PubMed ID: 16834779
[TBL] [Abstract][Full Text] [Related]
18. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.
Lu MF; Pressman C; Dyer R; Johnson RL; Martin JF
Nature; 1999 Sep; 401(6750):276-8. PubMed ID: 10499585
[TBL] [Abstract][Full Text] [Related]
19. A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F; Bloch-Zupan A; Free SL; Vaideanu D; Thompson PJ; Ashley P; Brice G; Rutland P; Bitner-Glindzicz M; Khaw PT; Fraser S; Sisodiya SM; Sowden JC
Am J Med Genet B Neuropsychiatr Genet; 2006 Mar; 141B(2):184-91. PubMed ID: 16389592
[TBL] [Abstract][Full Text] [Related]
20. PITX2 deficiency and associated human disease: insights from the zebrafish model.
Hendee KE; Sorokina EA; Muheisen SS; Reis LM; Tyler RC; Markovic V; Cuturilo G; Link BA; Semina EV
Hum Mol Genet; 2018 May; 27(10):1675-1695. PubMed ID: 29506241
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
