Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 1999

Basson C T, Huang T, Lin R C, Bachinsky D R, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita S F, Kamisago M, Morton C C, Pierpont M E, Müller C W, Seidman J G, Seidman C E

Abstract excerpt

To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied the clinical features of Holt-Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles caused substantial abnormalities both in limb and heart. In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Limb Deformities, Congenital

Share to Sequence Analysis, DNA

Share to Syndrome

Share to T-Box Domain Proteins

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 10077612
DOI: 10.1073/pnas.96.6.2919
PMCID: PMC15870

Genes

TBX5

Provenance

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.PMID 10077612Read ↗

Current advances in Holt-Oram syndrome.Semantic proximity Read ↗

TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.Semantic proximity Read ↗

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.Semantic proximity Read ↗

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.Semantic proximity Read ↗

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.Semantic proximity Read ↗

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.Semantic proximity Read ↗

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.Semantic proximity Read ↗

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.Semantic proximity Read ↗

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.Semantic proximity Read ↗

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Semantic proximity Read ↗

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.Semantic proximity Read ↗

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.