Axenfeld-Rieger syndrome in the age of molecular genetics
about
Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells.Essential structural and functional determinants within the forkhead domain of FOXC1Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesisAxenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growthModulation of morphogenesis by noncanonical Wnt signaling requires ATF/CREB family-mediated transcriptional activation of TGFbeta2Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaFamilial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Isolation and transplantation of corneal endothelial cell-like cells derived from in-vitro-differentiated human embryonic stem cells.Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 MutationA Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findingsPitx2a expression alters actin-myosin cytoskeleton and migration of HeLa cells through Rho GTPase signalingAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsOcular findings in Gillespie-like syndrome: association with a new PAX6 mutation.Genetic and genomic analysis of classic aniridia in Saudi Arabia.Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.Effect of PITX2 knockdown on transcriptome of primary human trabecular meshwork cell culturesBMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeIdentification of the GTPase-activating protein DEP domain containing 1B (DEPDC1B) as a transcriptional target of Pitx2Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.PAX6 and congenital eye malformations.Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesA Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.Recycling signals in the neural crestPITX2 and FOXC1 spectrum of mutations in ocular syndromesFoxC1-dependent regulation of vascular endothelial growth factor signaling in corneal avascularity.Genetics of anterior segment dysgenesis disorders.Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2.Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridizationThe canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in CanadaA novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeMolecular and developmental mechanisms of anterior segment dysgenesis.A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.Anomalous scleral insertion of superior oblique in Axenfeld-Rieger syndrome.Foxc1 and Foxc2 in the Neural Crest Are Required for Ocular Anterior Segment Development.Genomics and anterior segment dysgenesis: a review.
P2860
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P2860
Axenfeld-Rieger syndrome in the age of molecular genetics
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Axenfeld-Rieger syndrome in the age of molecular genetics
@ast
Axenfeld-Rieger syndrome in the age of molecular genetics
@en
Axenfeld-Rieger syndrome in the age of molecular genetics
@nl
type
label
Axenfeld-Rieger syndrome in the age of molecular genetics
@ast
Axenfeld-Rieger syndrome in the age of molecular genetics
@en
Axenfeld-Rieger syndrome in the age of molecular genetics
@nl
prefLabel
Axenfeld-Rieger syndrome in the age of molecular genetics
@ast
Axenfeld-Rieger syndrome in the age of molecular genetics
@en
Axenfeld-Rieger syndrome in the age of molecular genetics
@nl
P1476
Axenfeld-Rieger syndrome in the age of molecular genetics
@en
P304
P356
10.1016/S0002-9394(00)00525-0
P407
P577
2000-07-01T00:00:00Z