Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease
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Abnormal conduction and morphology in the atrioventricular node of mice with atrioventricular canal targeted deletion of Alk3/Bmpr1a receptorHop functions downstream of Nkx2.1 and GATA6 to mediate HDAC-dependent negative regulation of pulmonary gene expressionGenetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.Molecular genetics of congenital atrial septal defectsInsights into the genetic structure of congenital heart disease from human and murine studies on monogenic disordersNKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: results of a retrospective 4-year ultrasonic diagnosis studyDifferentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression.Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.Stem cell models of cardiac development and disease.Pathogenic mechanisms of congenital heart disease.Transcription factor pathways and congenital heart disease.Complex Ebstein's malformation: defining preoperative cardiac anatomy and function.Pendrin is a novel in vivo downstream target gene of the TTF-1/Nkx-2.1 homeodomain transcription factor in differentiated thyroid cells.Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.Nkx2-5 Regulates Tdgf1 (Cripto) Early During Cardiac Development.Single nucleotide editing without DNA cleavage using CRISPR/Cas9-deaminase in the sea urchin embryo.nkx genes establish SHF cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression.NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.Novel NKX2-5 mutations in patients with familial atrial septal defects.Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 geneA novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
P2860
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P2860
Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Novel point mutation in the ca ...... with congenital heart disease
@ast
Novel point mutation in the ca ...... with congenital heart disease
@en
Novel point mutation in the ca ...... with congenital heart disease
@nl
type
label
Novel point mutation in the ca ...... with congenital heart disease
@ast
Novel point mutation in the ca ...... with congenital heart disease
@en
Novel point mutation in the ca ...... with congenital heart disease
@nl
prefLabel
Novel point mutation in the ca ...... with congenital heart disease
@ast
Novel point mutation in the ca ...... with congenital heart disease
@en
Novel point mutation in the ca ...... with congenital heart disease
@nl
P2093
P356
P1433
P1476
Novel point mutation in the ca ...... with congenital heart disease
@en
P2093
Hiroyuki Takano
Jun-ichi Inoue
Ryozo Nagai
Shuzo Matsuo
Tetsuya Sumiyoshi
Toru Hosoda
Toshinori Utsunomiya
Tsuyoshi Ito
Yuichi Ikeda
Yukio Hiroi
P356
10.1253/CIRCJ.66.561
P407
P50
P577
2002-06-01T00:00:00Z