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

Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness.

Circulation. Cardiovascular genetics - 1 Oct 2014

Shameer Khader, Klee Eric W, Dalenberg Angela K, Kullo Iftikhar J

Abstract excerpt

BACKGROUND: Massively parallel, high-throughput sequencing technology is helping to generate new insights into the genetic basis of human diseases. We used whole exome sequencing to identify the mutation underlying a syndrome affecting 2 siblings with aortic hypoplasia, calcific atherosclerosis, systolic hypertension, and premature cataract. METHODS AND RESULTS: Exonic regions were captured and sequenced using a...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Diseases
Share to Atherosclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATPases Associated with Diverse Cellular Activities

Share to Cataract

Share to Chromatin

Share to DNA Helicases

Share to Vascular Stiffness

Source

Identifiers

PMID: 25122053
DOI: 10.1161/CIRCGENETICS.113.000233

Genes

INO80

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

Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness.PMID 25122053Read ↗

Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsia.Semantic proximity Read ↗

A mutation in the <i>LMOD1</i> actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissectionsSemantic proximity Read ↗

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset ComplicationsSemantic proximity Read ↗

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.Semantic proximity Read ↗

Linking single nucleotide polymorphisms to signaling blueprints in abdominal aortic aneurysms.Semantic proximity Read ↗

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencingSemantic proximity Read ↗

Linking single nucleotide polymorphisms to metabolic risk and matrix remodeling in abdominal aortic aneurysmsSemantic proximity Read ↗

Somatic mutations in both blood cells and vascular endothelium from patients with severe coronary artery diseasesSemantic proximity Read ↗

Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseasesSemantic proximity Read ↗

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.Semantic proximity Read ↗

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Semantic proximity Read ↗

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.Semantic proximity Read ↗

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