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

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

European journal of human genetics : EJHG - 1 May 2013

Harakalova Magdalena, van der Smagt Jasper, de Kovel Carolien G F, Van't Slot Ruben, Poot Martin, Nijman Isaac J, Medic Jelena, Joziasse Irene, Deckers Jaap, Roos-Hesselink Jolien W, Wessels Marja W, Baars Hubert F, Weiss Marjan M, Pals Gerard, Golmard Lisa, Jeunemaitre Xavier, Lindhout Dick, Cuppen Edwin, Baas Annette F

Abstract excerpt

Thoracic aortic aneurysms and dissections (TAAD) is a serious condition with high morbidity and mortality. It is estimated that 20% of non-syndromic TAAD cases are inherited in an autosomal-dominant pattern with variable expression and reduced penetrance. Mutations in myosin heavy chain 11 (MYH11...

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 Chromosome Segregation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ductus Arteriosus, Patent

Share to Genetic Testing

Share to Mutation, Missense

Share to Myosin Heavy Chains

Share to Netherlands

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 22968129
DOI: 10.1038/ejhg.2012.206
PMCID: PMC3641382

Genes

MYH11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22968129-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.PMID 22968129Read ↗

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.Semantic proximity Read ↗

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.Semantic proximity Read ↗

A deleterious MYH11 mutation causing familial thoracic aortic dissectionSemantic proximity Read ↗

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.Semantic proximity Read ↗

Mapping of Familial Thoracic Aortic Aneurysm/Dissection With Patent Ductus Arteriosus to 16p12.2–p13.13Semantic proximity Read ↗

Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.Semantic proximity Read ↗

Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct.Semantic proximity Read ↗

A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigreesSemantic proximity Read ↗

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissectionsSemantic proximity Read ↗

Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families.Semantic proximity Read ↗

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