Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.K1256del1
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MYH11

NM_002474.3:p.K1256del1

Associated Papers

Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.

Ogasawara N et al.

Internal Medicine (tokyo, Japan), 2026

Loss of Myh11 K1256 Dysregulates the Extracellular Matrix and Focal Adhesion by Inhibiting Zyxin-Activated Transcription.

Tomida S et al.

International Journal of Molecular Sciences, 2025

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

Zhou Z et al.

Plos Genetics, 2025

The Complicated Genetics behind Uncomplicated Type B Aortic Dissection.

Auton E et al.

Annals of Vascular Surgery, 2025

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Wei X et al.

Bmc Medical Genomics, 2024

38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › MYH11_hg19

Multi-Omics of Familial Thoracic Aortic Aneurysm and Dissection: Calcium Transport Impairment Predisposes Aortas to Dissection.

Tomida S et al.

International Journal of Molecular Sciences, 2023

Thoracic aneurysm and dissection gene variants increase the risk of aortic-related adverse events in early-onset isolated Stanford type B aortic dissection after endovascular aortic repair.

Li S et al.

Journal of Thoracic Disease, 2023

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Yagyu T et al.

Journal of the American Heart Association, 2023

37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf

An Myh11 single lysine deletion causes aortic dissection by reducing aortic structural integrity and contractility.

Negishi K et al.

Scientific Reports, 2022

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.

Gilbert MA et al.

Human Mutation, 2020

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Gago-Díaz M et al.

International Journal of Legal Medicine, 2017

A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees.

Imai Y et al.

International Journal of Cardiology, 2015

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Proost D et al.

Human Mutation, 2015

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Wooderchak-Donahue W et al.

American Journal of Medical Genetics. Part A, 2015

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."