Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Nature Genetics

• Publication date

  2000-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/79069PMID 10973260
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

  2000cited by this paper
• Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

  2000cited by this paper
• Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13

  2000cited by this paper
• Genetic causes of hearing loss.

  2000cited by this paper
• Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity.

  1999cited by this paper
• The DNA sequence of human chromosome 22

  1999cited by this paper
• Mapping of a gene for May-Hegglin anomaly to chromosome 22q

  1999cited by this paper
• Assembly of thick filaments and myofibrils occurs in the absence of the myosin head

  1999cited by this paper
• Myosins and deafness

  1999cited by this paper
• Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

  1998cited by this paper
• Cytoplasmic dynamics of myosin IIA and IIB: spatial 'sorting' of isoforms in locomoting cells.

  1998cited by this paper
• Genetic causes of hearing loss.

  1998cited by this paper
• Conditional loss-of-myosin-II-function mutants reveal a position in the tail that is critical for filament nucleation.

  1998cited by this paper
• Xenopus nonmuscle myosin heavy chain isoforms have different subcellular localizations and enzymatic activities [published erratum appears in J Cell Biol 1997 Jul 14;138(1):215]

  1996cited by this paper
• Differential localization of cytoplasmic myosin II isoforms A and B in avian interphase and dividing embryonic and immortalized cardiomyocytes and other cell types in vitro.

  1995cited by this paper
• Differential localization of myosin-II isozymes in human cultured cells and blood cells.

  1994cited by this paper
• Role of the COOH-terminal nonhelical tailpiece in the assembly of a vertebrate nonmuscle myosin rod

  1992cited by this paper
• A simple method for DNA purification from peripheral blood.

  1988cited by this paper
• Disruption of the Dictyostelium myosin heavy chain gene by homologous recombination.

  1987cited by this paper
• Antisense RNA inactivation of myosin heavy chain gene expression in Dictyostelium discoideum.

  1987cited by this paper
• Evidence for Glycoprotein Abnormality in Platelets from Patients with May-Hegglin Anomaly

  1985cited by this paper
• Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle

  1982cited by this paper
• Platelet membrane studies in the May-Hegglin anomaly.

  1981cited by this paper
• Platelet function, ultrastructure, and survival in the May-Hegglin anomaly.

  1980cited by this paper
• May‐Hegglin Anomaly: A Defect in Megakaryocyte Fragmentation?

  1974cited by this paper
• The May-Hegglin anomaly: platelet function, ultrastructure and chromosome studies.

  1968cited by this paper
• [Not Available].

  1945cited by this paper

• Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.

  2026cites this paper
• The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

  2026cites this paper
• MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes

  2026cites this paper
• First Report of MYH9 E1841K Variant in an Indian Family: A Case of Familial Macrothrombocytopenia and Review of Literature

  2025cites this paper
• Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).

  2025cites this paper
• Molecular Control of Non-Muscle Myosin II-A Aggregation and Intracellular Dynamics by motor- or tail-specific MYH9 Mutations

  2025cites this paper
• Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease

  2025cites this paper
• APOL1-mediated kidney disease: a narrative review of the lessons learnt from the past 15 years

  2025cites this paper
• Mapping the IMiD‐dependent cereblon interactome using BioID‐proximity labelling

  2024cites this paper
• Contractility defects hinder glycoprotein VI-mediated platelet activation and affect platelet functions beyond clot contraction

  2024cites this paper
• Diagnostic delay of MYH9‐related disorder in Japan

  2024cites this paper
• A Case of Myosin Heavy Chain 9-Related Disorder Following Splenectomy Due to Misdiagnosis of Idiopathic Thrombocytopenic Purpura

  2024cites this paper
• 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

  2024cites this paper
• Non-Muscle Myosin II A: Friend or Foe in Cancer?

  2024cites this paper
• Platelet formation and activation are influenced by neuronal guidance proteins

  2023cites this paper
• Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders

  2023cites this paper
• MYH9-related diseases in the differential diagnosis of chronic immune thrombocytopenic purpura

  2023cites this paper
• Kif26b contributes to the progression of interstitial fibrosis via migration and myofibroblast differentiation in renal fibroblast

  2022cites this paper
• The surgical management of a patient with chronic renal failure and macrothrombocytopenia related to the MYH9 gene mutation: A case report.

  2022cites this paper
• Smooth Muscle Myosin 2 Filaments Dynamically Assemble and Stabilize During Induced Contractility

  2022cites this paper
• Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells

  2021cites this paper
• Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice

  2021cites this paper
• Motor proteins at the mitochondria–cytoskeleton interface

  2021cites this paper
• Advances in understanding the pathogenesis of hereditary macrothrombocytopenia

  2021cites this paper
• Pathogenic Aspects of Inherited Platelet Disorders.

  2021cites this paper
• Thrombopoietin receptor agonists for the treatment of inherited thrombocytopenia

  2020cites this paper
• Non-Muscle Myosin 2A (NM2A): Structure, Regulation and Function

  2020cites this paper
• Renal transplantation in a patient with MHY9-related disease; a case report

  2020cites this paper
• ADPr-actin trimer is a short-F-actin oligomer that binds selectively to F-actin binding proteins

  2020cites this paper
• Thrombocytopenia and thrombocytosis

  2020cites this paper
• Myosins and Disease.

  2020cites this paper
• Cellular defects resulting from disease-related myosin II mutations in Drosophila

  2019cites this paper
• MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy

  2019cites this paper
• Applications of Molecular Testing to Differential Diagnosis

  2019cites this paper
• Evolution and Functional Differentiation of the Diaphragm Muscle of Mammals.

  2019cites this paper
• MYH9‐related disease mutations cause abnormal red blood cell morphology through increased myosin‐actin binding at the membrane

  2019cites this paper
• Megakaryocyte Development and Platelet Formation

  2019cites this paper
• Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

  2018cites this paper
• A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia

  2018cites this paper
• Investigating the mechanism of bone marrow failure observed in patients with acute myeloid leukaemia

  2018cites this paper
• Myosin IIa is critical for cAMP-mediated endothelial secretion of von Willebrand factor.

  2018cites this paper
• Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)

  2018cites this paper
• Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia

  2018cites this paper
• MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

  2018cites this paper
• Platelets and Hemostasis

  2018cites this paper
• MYH9 E1841K Mutation Augments Proteinuria and Podocyte Injury and Migration.

  2017cites this paper
• Mechanotransduction in blood cells

  2017cites this paper
• Title : Myosin IIa is critical for cAMP-mediated endothelial secretion of von Willebrand factor Running title : Myosin IIa regulates endothelial VWF secretion

  2017cites this paper
• Non-muscle myosin II deletion in the developing kidney causes ureter-bladder misconnection and apical extrusion of the nephric duct lineage epithelia.

  2017cites this paper
• Non-Neoplastic Morphologic Abnormalities of White Blood Cells and Macrophages

  2017cites this paper
• Non-muscle myosin II motor proteins in human health and diseases

  2017cites this paper
• Genome Analysis and Human Health

  2017cites this paper
• Mutation in the tail region of MYH9 inhibits disassembly of nonmuscle myosin IIA

  2017cites this paper
• Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias

  2017cites this paper
• Thrombocytopenia: A Defect in Actin Dynamics?

  2017cites this paper
• Mutations in the SH1 helix alter the thermal properties of myosin II

  2017cites this paper
• CONSTITUTIVE DIAPH 1 ACTIVATION : DEAFNESS , AUTOSOMAL DOMINANT 1

  2017cites this paper
• Functional validation of tensin2 SH2-PTB domain by CRISPR/Cas9-mediated genome editing

  2016cites this paper
• Preoperative use of platelets in a 6‐year‐old with acute appendicitis and a myosin heavy chain 9–related disorder: a case report and review of literature

  2016cites this paper
• Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

  2016cites this paper
• The actinin family of actin crosslinking proteins: natural functions and potential applications in synthetic biology

  2016cites this paper
• Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

  2016cites this paper
• Human Induced Pluripotent Stem Cell-Derived Podocytes Mature into Vascularized Glomeruli upon Experimental Transplantation.

  2016cites this paper
• Expansion and concatenation of nonmuscle myosin IIA filaments drive cellular contractile system formation during interphase and mitosis

  2016cites this paper
• Studies on interfaces between primary and secondary hemostasis

  2016cites this paper
• Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia.

  2015cites this paper
• A case of MYH9 disorders caused by a novel mutation (p.K74E)

  2015cites this paper
• Roll, adhere, spread and contract: structural mechanics of platelet function.

  2015cites this paper
• Metachronous classical Hodgkin's lymphoma and ALK-positive anaplastic large cell lymphoma.

  2015influential citation
• R705H mutation of MYH9 is associated with MYH9‐related disease and not only with non‐syndromic deafness DFNA17

  2015influential citation
• Exploring the regulation of megakaryocytic differentiation and platelet production by mechanical forces and cell-derived microparticles

  2015cites this paper
• Misdiagnosed MYH9 related inherited macrothrombocytopenia with an inadvertent splenectomy.

  2015cites this paper
• Nonmuscle Myosin II Regulates the Morphogenesis of Metanephric Mesenchyme-Derived Immature Nephrons.

  2015cites this paper
• Cochlear implantation is safe and effective in patients with MYH9-related disease

  2014cites this paper
• MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

  2014cites this paper
• Membrane forces and key protein determinants of hematopoietic cell function: Lamins and myosin-II in hematopoiesis and CD47 in immunotherapy of cancer

  2014cites this paper
• Life without double-headed non-muscle myosin II motor proteins

  2014cites this paper
• MYH9-Related Disease: Description of a Large Chinese Pedigree and a Survey of Reported Mutations

  2014cites this paper
• The Endocytic Receptor Megalin and its Associated Proteins in Proximal Tubule Epithelial Cells

  2014cites this paper
• Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea.

  2014cites this paper
• Establishment of Mouse Model of MYH9 Disorders: Heterozygous R702C Mutation Provokes Macrothrombocytopenia with Leukocyte Inclusion Bodies, Renal Glomerulosclerosis and Hearing Disability

  2013cites this paper
• A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

  2013influential citation
• megakaryocytes Platelet formation is the consequence of caspase activation within

  2013cites this paper
• MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

  2013cites this paper
• The incredible journey: From megakaryocyte development to platelet formation

  2013cites this paper
• The abnormal proplatelet formation in MYH9‐related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition

  2013cites this paper
• A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice

  2013cites this paper
• Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders

  2013cites this paper
• Loss of the F-BAR protein CIP4 reduces platelet production by impairing membrane-cytoskeleton remodeling.

  2013cites this paper
• The Platelet Cytoskeleton

  2013cites this paper
• Mechanobiology of bone marrow stem cells: from myosin-II forces to compliance of matrix and nucleus in cell forms and fates.

  2013cites this paper
• Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions.

  2013cites this paper
• Identifying and Phenotyping an ENU Derived Mouse Model of MYH9 Related Disease

  2012cites this paper
• [MYH9 syndrome and auto-immune haemolytic anaemia: an unrelated association?].

  2012cites this paper
• Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

  2012cites this paper
• Genetic testing in renal disease

  2012cites this paper
• Clinical, Pathological, and Genetic Analysis of Ten Patients with MYH9-Related Disease

  2012cites this paper
• Report of a Young Girl With MYH9 Mutation and Review of the Literature

  2012cites this paper
• Mutational analysis of APOL1 in patients with Fechtner and Epstein syndromes: no evidence of a digenic etiology in MYH9-related disorders with renal disease

  2012cites this paper
• A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly

  2012cites this paper