A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye - Wikidata - awgldk - TriplyDB

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

http://www.wikidata.org/entity/Q24535671

about

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1 FOXC1 transcriptional regulation is mediated by N- and C-terminal activation domains and contains a phosphorylated transcriptional inhibitory domain FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner Essential structural and functional determinants within the forkhead domain of FOXC1 Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly GDF6, a novel locus for a spectrum of ocular developmental anomalies Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment Zebrafish foxc1a drives appendage-specific neural circuit development.Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability Selection of thermodynamic models for combinatorial control of multiple transcription factors in early differentiation of embryonic stem cells An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.Long-range control of gene expression: emerging mechanisms and disruption in disease.Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Genetic effects on human cognition: lessons from the study of mental retardation syndromes Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.Genetic and genomic analysis of classic aniridia in Saudi Arabia.Clinical and experimental advances in congenital and paediatric cataracts.Copy number variations on chromosome 12q14 in patients with normal tension glaucoma Copy number variations and primary open-angle glaucoma.Loss of Foxm1 Results in Reduced Somatotrope Cell Number during Mouse Embryogenesis.Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.Inherited corneal disease: the evolving molecular, genetic and imaging revolution.FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.Genetics of anterior segment dysgenesis disorders.Perturbations of the cerebrovascular matrisome: A convergent mechanism in small vessel disease of the brain?A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

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P2860

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

http://www.wikidata.org/entity/Q24535671

description

2001 nî lūn-bûn

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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2001 թվականի փետրվարին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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American Journal of Human Genetics

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A spectrum of FOXC1 mutations ...... he anterior chamber of the eye

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A B Kanis

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P2860

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

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

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

A second locus for Rieger syndrome maps to chromosome 13q14

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

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