Current molecular understanding of Axenfeld-Rieger syndrome
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Functional analysis of human mutations in homeodomain transcription factor PITX3Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case reportPITX2 gain-of-function induced defects in mouse forelimb developmentPitx2c is reactivated in the failing myocardium and stimulates myf5 expression in cultured cardiomyocytesPituitary homeobox 2 (PITX2) protects renal cancer cell lines against doxorubicin toxicity by transcriptional activation of the multidrug transporter ABCB1Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21Conditional deletion of the mouse Klf4 gene results in corneal epithelial fragility, stromal edema, and loss of conjunctival goblet cellsStudies on Axenfeld-Rieger syndrome patients and mice reveal Foxc1's role in corneal neovascularizationPITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger SyndromeAn altered phenotype in a conditional knockout of Pitx2 in extraocular muscle.Novel forms of Paired-like homeodomain transcription factor 2 (PITX2): generation by alternative translation initiation and mRNA splicing.Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.PITX2-dependent gene regulation in atrial fibrillation and rhythm control.A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findingsGlaucoma: genes, phenotypes, and new directions for therapy.pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafishAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsThe Pitx2c N-terminal domain is a critical interaction domain required for asymmetric morphogenesis.Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.Xenopus: An emerging model for studying congenital heart disease.Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio.A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.Transgenic insights linking pitx2 and atrial arrhythmiasPITX2 and FOXC1 spectrum of mutations in ocular syndromesPaired-like homeodomain transcription factors 1 and 2 regulate follicle-stimulating hormone beta-subunit transcription through a conserved cis-element.A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeA novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formationNoggin producing, MyoD-positive cells are crucial for eye development.Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeThe 6p25 deletion syndrome: An update on a rare neurocristopathy.Primary congenital and developmental glaucomas.Ocular surface development and gene expression.Rieger syndrome with multiple chromosomal breaks and chromosome 4 deletion.Conditional disruption of mouse Klf5 results in defective eyelids with malformed meibomian glands, abnormal cornea and loss of conjunctival goblet cells.A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.Myocardial transcription factors in diastolic dysfunction: clues for model systems and disease.PITX2 deficiency and associated human disease: insights from the zebrafish model.PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).
P2860
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P2860
Current molecular understanding of Axenfeld-Rieger syndrome
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Current molecular understanding of Axenfeld-Rieger syndrome
@ast
Current molecular understanding of Axenfeld-Rieger syndrome
@en
Current molecular understanding of Axenfeld-Rieger syndrome
@nl
type
label
Current molecular understanding of Axenfeld-Rieger syndrome
@ast
Current molecular understanding of Axenfeld-Rieger syndrome
@en
Current molecular understanding of Axenfeld-Rieger syndrome
@nl
prefLabel
Current molecular understanding of Axenfeld-Rieger syndrome
@ast
Current molecular understanding of Axenfeld-Rieger syndrome
@en
Current molecular understanding of Axenfeld-Rieger syndrome
@nl
P1476
Current molecular understanding of Axenfeld-Rieger syndrome
@en
P2093
Tord A Hjalt
P356
10.1017/S1462399405010082
P407
P577
2005-11-08T00:00:00Z