Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case reportAP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesisCre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleusTbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variabilityHuman PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsYeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein.Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesisAsymmetric 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 culturesChromosome abnormalities and the genetics of congenital corneal opacification.PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.A zebrafish model of axenfeld-rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development.Small ubiquitin-like modifier (SUMO) modification mediates function of the inhibitory domains of developmental regulators FOXC1 and FOXC2Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.Chromatin-associated HMG-17 is a major regulator of homeodomain transcription factor activity modulated by Wnt/beta-catenin signalingIn control of biology: of mice, men and FoxesThe LIM homeodomain transcription factor LHX6: a transcriptional repressor that interacts with pituitary homeobox 2 (PITX2) to regulate odontogenesisThe canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development.Protein inhibitors of activated STAT (Pias1 and Piasy) differentially regulate pituitary homeobox 2 (PITX2) transcriptional activityMolecular characterization of a novel ring 6 chromosome using next generation sequencing.MicroRNA-495 downregulates FOXC1 expression to suppress cell growth and migration in endometrial cancer.Molecular and developmental mechanisms of anterior segment dysgenesis.Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.Forkhead box O1 is a repressor of basal and GnRH-induced Fshb transcription in gonadotropes.Potential for transcriptional upregulation of cochlin in glaucomatous trabecular meshwork: a combinatorial bioinformatic and biochemical analytical approach.Foxc1 and Foxc2 in the Neural Crest Are Required for Ocular Anterior Segment Development.Genomics and anterior segment dysgenesis: a review.Translational issues for human corneal endothelial tissue engineering.Primary congenital and developmental glaucomas.A complex regulatory network of transcription factors critical for ocular development and disease.Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.Magnetic resonance imaging findings in Axenfeld-Rieger syndrome.The transcription factor Foxc1a in zebrafish directly regulates expression of nkx2.5, encoding a transcriptional regulator of cardiac progenitor cells.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.PITX2 deficiency and associated human disease: insights from the zebrafish model.
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P2860
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis
description
2006 nî lūn-bûn
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2006 թուականի Մարտին հրատարակուած գիտական յօդուած
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2006 թվականի մարտին հրատարակված գիտական հոդված
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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name
Functional interactions betwee ...... nd anterior segment dysgenesis
@ast
Functional interactions betwee ...... nd anterior segment dysgenesis
@en
Functional interactions betwee ...... nd anterior segment dysgenesis
@en-gb
Functional interactions betwee ...... nd anterior segment dysgenesis
@nl
type
label
Functional interactions betwee ...... nd anterior segment dysgenesis
@ast
Functional interactions betwee ...... nd anterior segment dysgenesis
@en
Functional interactions betwee ...... nd anterior segment dysgenesis
@en-gb
Functional interactions betwee ...... nd anterior segment dysgenesis
@nl
prefLabel
Functional interactions betwee ...... nd anterior segment dysgenesis
@ast
Functional interactions betwee ...... nd anterior segment dysgenesis
@en
Functional interactions betwee ...... nd anterior segment dysgenesis
@en-gb
Functional interactions betwee ...... nd anterior segment dysgenesis
@nl
P2093
P2860
P3181
P356
P1476
Functional interactions betwee ...... nd anterior segment dysgenesis
@en
P2093
D Alan Underhill
Fred B Berry
J Martin Oas
Matthew A Lines
Michael A Walter
P2860
P304
P3181
P356
10.1093/HMG/DDL008
P407
P50
P577
2006-03-15T00:00:00Z