Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

doi:10.1073/pnas.1318761111

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

Community

Back to search

Article

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Proceedings of the National Academy of Sciences of the United States of America - 27 May 2014

Kawasaki Kyoko, Freimuth Julia, Meyer Dominique S, Lee Marie M, Tochimoto-Okamoto Akiko, Benzinou Michael, Clermont Frederic F, Wu Gloria, Roy Ritu, Letteboer Tom G W, Ploos van Amstel Johannes Kristian, Giraud Sophie, Dupuis-Girod Sophie, Lesca Gaeten, Westermann Cornelius J J, Coffey Robert J, Akhurst Rosemary J

Abstract excerpt

Outcome of TGFβ1 signaling is context dependent and differs between individuals due to germ-line genetic variation. To explore innate genetic variants that determine differential outcome of reduced TGFβ1 signaling, we dissected the modifier locus Tgfbm3, on mouse chromosome 12. On a NIH/OlaHsd genetic background, the Tgfbm3b(C57) haplotype suppresses prenatal lethality of Tgfb1(-/-) embryos and enhances nuclear...

Read the complete abstract on PubMed

Topics

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

Share to ADAM Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ADAM17 Protein

Share to Blood Vessels

Share to Luciferases

Share to NIH 3T3 Cells

Share to Smad2 Protein

Share to Transforming Growth Factor beta

Share to Transforming Growth Factor beta1

Source

Open in PubMed Open full text

Identifiers

PMID: 24812125
DOI: 10.1073/pnas.1318761111
PMCID: PMC4040598

Genes

ADAM17
ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.PMID 24812125Read ↗

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1(-/-) mice.Semantic proximity Read ↗

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challengesSemantic proximity Read ↗

Loss of function variants in<i>ADAMTS6</i>: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)Semantic proximity Read ↗

Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice.Semantic proximity Read ↗

Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Genetic variants of ADAM17 are implicated in the pathological process of Kawasaki disease and secondary coronary artery lesions via the TGF-β/SMAD3 signaling pathway.Semantic proximity Read ↗

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicitySemantic proximity Read ↗

Endothelial deletion of ADAM17 in mice results in defective remodeling of the semilunar valves and cardiac dysfunction in adultsSemantic proximity Read ↗

The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.Semantic proximity Read ↗

Adam17 Deficiency Promotes Atherosclerosis by Enhanced TNFR2 Signaling in Mice.Semantic proximity Read ↗

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