Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease - Wikidata - awgldk - TriplyDB

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

http://www.wikidata.org/entity/Q24629583

about

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle NKX3.1 activates expression of insulin-like growth factor binding protein-3 to mediate insulin-like growth factor-I signaling and cell proliferation Epigenetic mechanisms in cardiac development and disease Genetics of congenital heart disease: the glass half empty Crystal Structure of the Human NKX2.5 Homeodomain in Complex with DNA Target Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5 Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis.Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.Expression of sumoylation deficient Nkx2.5 mutant in Nkx2.5 haploinsufficient mice leads to congenital heart defects.Examining the cardiac NK-2 genes in early heart development.Cardiac transcription factor Nkx2.5 is downregulated under excessive O-GlcNAcylation condition.The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis Mutations that affect the ability of the vnd/NK-2 homeoprotein to regulate gene expression: transgenic alterations and tertiary structure NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.Cardiac chamber formation: development, genes, and evolution.Enhanced desumoylation in murine hearts by overexpressed SENP2 leads to congenital heart defects and cardiac dysfunction.An Orthologous Epigenetic Gene Expression Signature Derived from Differentiating Embryonic Stem Cells Identifies Regulators of Cardiogenesis NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein Irx3 is required for postnatal maturation of the mouse ventricular conduction system Evolutionary conservation of Nkx2.5 autoregulation in the second heart field.Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.Variant NKX3.1 and Serum IGF-1: Investigation of Interaction in Prostate Cancer.Stem cell models of cardiac development and disease.Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.Jarid2 is among a set of genes differentially regulated by Nkx2.5 during outflow tract morphogenesis.Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene.A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation.GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect.Biochemical Analyses of Csx/Nkx2.5 Mutants and Their Structure–Function Relationship.Genetic abnormalities in FOXP1 are associated with congenital heart defects.The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis.Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

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P2860

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

http://www.wikidata.org/entity/Q24629583

description

2000 nî lūn-bûn

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2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2000 թվականի հուլիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Loss of function and inhibitor ...... with congenital heart disease

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Journal of Clinical Investigation

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Loss of function and inhibitor ...... with congenital heart disease

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P2093

B Lee

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C E Seidman

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D W Benson

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H Kasahara

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J G Seidman

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J J Schott

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P2860

Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

Congenital heart disease caused by mutations in the transcription factor NKX2-5

The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors.

Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx

Interactions of the vnd/NK-2 homeodomain with DNA by nuclear magnetic resonance spectroscopy: basis of binding specificity

Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand

The gene tinman is required for specification of the heart and visceral muscles in Drosophila

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency

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2

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314312

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