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

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2011

Pezzini Alessandro, Drera Bruno, Del Zotto Elisabetta, Ritelli Marco, Carletti Monica, Tomelleri Gianpaolo, Bovi Paolo, Giossi Alessia, Volonghi Irene, Costa Paolo, Magoni Mauro, Padovani Alessandro, Barlati Sergio, Colombi Marina

Abstract excerpt

Mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been associated with hereditary connective tissue disorders with widespread vascular involvement, including arterial dissection. To determine whether mutations in these genes cause spontaneous cervical artery dissection (sCAD), all coding exons of TGFBR1 and TGFBR2 were sequenced in 56 consecutive...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Aneurysm, Thoracic
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Mutation

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type I

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Source

Identifiers

PMID: 21270064
DOI: 10.1136/jnnp.2010.231902

Genes

TGFBR2
TGFBR1

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

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.PMID 21270064Read ↗

A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.Semantic proximity Read ↗

Spontaneous arterial dissection: phenotype and molecular pathogenesis.Semantic proximity Read ↗

Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.Semantic proximity Read ↗

Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.Semantic proximity Read ↗

Rare genetic variants in patients with cervical artery dissectionSemantic proximity Read ↗

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Semantic proximity Read ↗

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulationSemantic proximity Read ↗

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.Semantic proximity Read ↗

The genetics of spontaneous coronary artery dissection: a scoping review.Semantic proximity Read ↗

Heritable connective tissue disorders in cervical artery dissections: a prospective study.Semantic proximity Read ↗

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.Semantic proximity Read ↗

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.Semantic proximity Read ↗

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