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Article

A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

PloS one - 1 Jan 2011

Zhao Feng, Bosserhoff Anja-Katrin, Buettner Reinhard, Moser Markus

Abstract excerpt

BACKGROUND: Patent ductus arteriosus (PDA) is one of the most common forms of congenital heart disease. Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. Animal research data are needed to understand the mechanisms. The aim of our study was to elucidate the pathogenesis of Char syndrome at the molecular level....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ductus Arteriosus, Patent

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Share to Heart Septal Defects, Atrial

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Source

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Identifiers

PMID: 21829553
DOI: 10.1371/journal.pone.0022908
PMCID: PMC3146506

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

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A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.PMID 21829553Read ↗

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.Semantic proximity Read ↗

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.Semantic proximity Read ↗

Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.Semantic proximity Read ↗

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.Semantic proximity Read ↗

Insights into the pathogenesis and genetic background of patency of the ductus arteriosus.Semantic proximity Read ↗

Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.Semantic proximity Read ↗

TFAP2B mutation and dental anomalies.Semantic proximity Read ↗

Transcriptional regulation during development of the ductus arteriosus.Semantic proximity Read ↗

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.Semantic proximity Read ↗

Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme.Semantic proximity Read ↗

Transcription factor AP-2beta in development, differentiation and tumorigenesis.Semantic proximity Read ↗

Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control.Semantic proximity Read ↗

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