A mutation in the RIEG1 gene associated with Peters' anomaly
about
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaDigenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneA novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomalyMutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisFOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger SyndromeAnalysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.Transdifferentiation from cornea to lens in Xenopus laevis depends on BMP signalling and involves upregulation of Wnt signallingAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsGenome-wide association studies of atrial fibrillation: past, present, and future.Genetics of atrial fibrillation: implications for future research directions and personalized medicine.Chromosome abnormalities and the genetics of congenital corneal opacification.Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy.Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesThe canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.Glaucoma genetics.Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel ComorbiditiesPITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation.Primary congenital and developmental glaucomas.Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
P2860
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P2860
A mutation in the RIEG1 gene associated with Peters' anomaly
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A mutation in the RIEG1 gene associated with Peters' anomaly
@ast
A mutation in the RIEG1 gene associated with Peters' anomaly
@en
A mutation in the RIEG1 gene associated with Peters' anomaly
@nl
type
label
A mutation in the RIEG1 gene associated with Peters' anomaly
@ast
A mutation in the RIEG1 gene associated with Peters' anomaly
@en
A mutation in the RIEG1 gene associated with Peters' anomaly
@nl
prefLabel
A mutation in the RIEG1 gene associated with Peters' anomaly
@ast
A mutation in the RIEG1 gene associated with Peters' anomaly
@en
A mutation in the RIEG1 gene associated with Peters' anomaly
@nl
P2093
P3181
P1476
A mutation in the RIEG1 gene associated with Peters' anomaly
@en
P2093
P3181
P407
P577
1999-02-01T00:00:00Z