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Literature DB >> 19513095

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Abstract

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.

Entities: Disease Gene

Mesh：

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Year: 2009 PMID： 19513095 PMCID： PMC2987033 DOI： 10.1038/ejhg.2009.93

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

71 in total

1. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis.

Authors: C R Lin; C Kioussi; S O'Connell; P Briata; D Szeto; F Liu; J C Izpisúa-Belmonte; M G Rosenfeld
Journal: Nature Date: 1999-09-16 Impact factor: 49.962

2. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors: J T den Dunnen; S E Antonarakis
Journal: Hum Mutat Date: 2000 Impact factor: 4.878

3. Delineation of two distinct 6p deletion syndromes.

Authors: A F Davies; G Mirza; G Sekhon; P Turnpenny; F Leroy; F Speleman; C Law; N van Regemorter; E Vamos; F Flinter; J Ragoussis
Journal: Hum Genet Date: 1999-01 Impact factor: 4.132

4. A mutation in the RIEG1 gene associated with Peters' anomaly.

Authors: W Doward; R Perveen; I C Lloyd; A E Ridgway; L Wilson; G C Black
Journal: J Med Genet Date: 1999-02 Impact factor: 6.318

5. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.

Authors: M F Lu; C Pressman; R Dyer; R L Johnson; J F Martin
Journal: Nature Date: 1999-09-16 Impact factor: 49.962

6. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles.

Authors: G E Winnier; T Kume; K Deng; R Rogers; J Bundy; C Raines; M A Walter; B L Hogan; S J Conway
Journal: Dev Biol Date: 1999-09-15 Impact factor: 3.582

7. Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

Authors: R E Swiderski; R S Reiter; D Y Nishimura; W L Alward; J W Kalenak; C S Searby; E M Stone; V C Sheffield; J J Lin
Journal: Dev Dyn Date: 1999-09 Impact factor: 3.780

8. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

Authors: R S Smith; A Zabaleta; T Kume; O V Savinova; S H Kidson; J E Martin; D Y Nishimura; W L Alward; B L Hogan; S W John
Journal: Hum Mol Genet Date: 2000-04-12 Impact factor: 6.150

9. Dosage requirement of Pitx2 for development of multiple organs.

Authors: P J Gage; H Suh; S A Camper
Journal: Development Date: 1999-10 Impact factor: 6.868

10. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

Authors: Guillaume de la Houssaye; Ivan Bieche; Olivier Roche; Véronique Vieira; Ingrid Laurendeau; Laurence Arbogast; Hatem Zeghidi; Philippe Rapp; Philippe Halimi; Michel Vidaud; Jean-Louis Dufier; Maurice Menasche; Marc Abitbol
Journal: BMC Med Genet Date: 2006-11-29 Impact factor: 2.103

92 in total

1. Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2.

Authors: Theodora E Danciu; Sergey Chupreta; Osvaldo Cruz; Jennifer E Fox; Malcolm Whitman; Jorge A Iñiguez-Lluhí
Journal: J Biol Chem Date: 2012-04-05 Impact factor: 5.157

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

1. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis.

2. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

3. Delineation of two distinct 6p deletion syndromes.

4. A mutation in the RIEG1 gene associated with Peters' anomaly.

5. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.

6. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles.

7. Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

8. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

9. Dosage requirement of Pitx2 for development of multiple organs.

10. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

1. Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2.

2. Clinical utility gene card for: Axenfeld-Rieger syndrome.

3. AP-2β is required for formation of the murine trabecular meshwork and Schlemm's canal.

4. Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.

5. Primary cellular meningeal defects cause neocortical dysplasia and dyslamination.

Review 6. Developmental disorders of the dentition: an update.

7. A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.

Review 8. The role of homeodomain transcription factors in heritable pituitary disease.

9. A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.

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