Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.E1945*
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MYH9

NM_002473.6:p.E1945*

Associated Papers

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Goto S et al.

Genes, 2026

myh9b is a critical non-muscle myosin II encoding gene that interacts with myh9a and myh10 during zebrafish development in both compensatory and redundant pathways.

Rolfs LA et al.

G3 (bethesda, Md.), 2025

MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.

Shen K et al.

Research and Practice in Thrombosis and Haemostasis, 2024

39309229 (PubMed )
Supplement: mmc3.xlsx › HGMD

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.

Asensio-Juárez G et al.

Cells, 2020

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

Yang EJ et al.

Journal of Pediatric Hematology/oncology, 2020

MYH9-related disorders display heterogeneous kidney involvement and outcome.

Tabibzadeh N et al.

Clinical Kidney Journal, 2019

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Pecci A et al.

Gene, 2018

MYH9 gene mutations associated with bleeding.

Savoia A et al.

Platelets, 2017

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A et al.

Human Mutation, 2014

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Sun XH et al.

Acta Haematologica, 2013

[Clinical features and gene analyses of six patients with MYH9-related disease].

Sun XH et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Pecci A et al.

Plos One, 2012

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Savoia A et al.

Thrombosis and Haemostasis, 2010

MYH9-related platelet disorders.

Althaus K et al.

Seminars in Thrombosis and Hemostasis, 2009

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A et al.

Human Mutation, 2008

Description of a novel mutation leading to MYH9-related disease.

Burt RA et al.

Thrombosis Research, 2008

Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).

Selleng K et al.

European Journal of Haematology, 2007

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Pecci A et al.

Human Molecular Genetics, 2005

Altered cytoskeleton organization in platelets from patients with MYH9-related disease.

Canobbio I et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Seri M et al.

Medicine, 2003

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ et al.

Ear and Hearing, 0

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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."