Associated Papers
MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes.
Llorente-González C et al.
Cellular and Molecular Life Sciences : Cmls, 2026
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Molecular Control of Non-Muscle Myosin II-A Aggregation and Intracellular Dynamics by motor- or tail-specific MYH9 Mutations.
Llorente-González C et al.
Biorxiv : the Preprint Server for Biology, 2025
Heterozygous MYH9 Mutations in 2 Children With Cochlear Nerve Canal Stenosis.
Liang W et al.
Ear, Nose, & Throat Journal, 2025
Non-Muscle Myosin II A: Friend or Foe in Cancer?
Feroz W et al.
International Journal of Molecular Sciences, 2024
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
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Frohne A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2024
A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss.
Pan C et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2022
Motor proteins at the mitochondria-cytoskeleton interface.
Kruppa AJ et al.
Journal of Cell Science, 2021
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
Myosins and Hearing.
Friedman TB et al.
Advances in Experimental Medicine and Biology, 2020
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.
Fernandez-Prado R et al.
Clinical Kidney Journal, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI et al.
Cold Spring Harbor Molecular Case Studies, 2018
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
Mutations in the SH1 helix alter the thermal properties of myosin II.
Shibata K et al.
Biophysics and Physicobiology, 2017
Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.
Wasano K et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2016
The Increasing Importance of Gene-Based Analyses.
Cirulli ET
Plos Genetics, 2016
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
Verver E et al.
Clinical Genetics, 2015
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A case of cochlear implantation in a patient with Epstein syndrome.
Nabekura T et al.
Auris, Nasus, Larynx, 2015
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.
Dantas VG et al.
Genetics and Molecular Biology, 2014
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
Cochlear implantation is safe and effective in patients with MYH9-related disease.
Pecci A et al.
Orphanet Journal of Rare Diseases, 2014
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
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012
Myosin light-chain kinase is necessary for membrane homeostasis in cochlear inner hair cells.
Zhu GJ et al.
Plos One, 2012
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL et al.
British Journal of Haematology, 2011
Advances in the understanding of MYH9 disorders.
Kunishima S et al.
Current Opinion in Hematology, 2010
In vitro expression and characterization of MYH9 mutant alleles linked to hereditary hearing loss.
Wei CC et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2010
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
Kunishima S et al.
Genetic Testing and Molecular Biomarkers, 2009
CKD in MYH9-related disorders.
Singh N et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2009
MYH9-related platelet disorders.
Althaus K et al.
Seminars in Thrombosis and Hemostasis, 2009
MYH9-siRNA and MYH9 mutant alleles: expression in cultured cell lines and their effects upon cell structure and function.
Li Y et al.
Cell Motility and the Cytoskeleton, 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
Mutation in the SH1 helix reduces the activation energy of the ATP-induced conformational transition of myosin.
Iwai S et al.
Biochemical and Biophysical Research Communications, 2007
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.
Kunishima S et al.
European Journal of Haematology, 2007
Generation and characterization of mice with Myh9 deficiency.
Mhatre AN et al.
Neuromolecular Medicine, 2007
Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly.
Otsubo K et al.
Pediatric Blood & Cancer, 2006
A point mutation in the SH1 helix alters elasticity and thermal stability of myosin II.
Iwai S et al.
The Journal of Biological Chemistry, 2006