Mouse models of MYH 9-related disease : mutations in nonmuscle myosin IIA

1National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD; 2Department of Medicine, Duke University Medical Center, Durham, NC; 3Office of Research Services, Division of Veterinary Resources, 4National Eye Institute, and 5National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD; 6Medical Service, Durham Veterans Affairs Medical Center, Durham, NC; and 7National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD

[1]  A. Savoia,et al.  Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias , 2011, British journal of haematology.

[2]  A. Difeo,et al.  The first report of homozygous May–Hegglin anomaly E1841K mutation , 2011, European journal of haematology.

[3]  L. Holzman,et al.  Podocyte-Specific Deletion of Myh9 Encoding Nonmuscle Myosin Heavy Chain 2A Predisposes Mice to Glomerulopathy , 2011, Molecular and Cellular Biology.

[4]  M. Son,et al.  Membrane-type MMPs are indispensable for placental labyrinth formation and development. , 2010, Blood.

[5]  J. Hartwig,et al.  Cytoskeletal mechanics of proplatelet maturation and platelet release , 2010, The Journal of cell biology.

[6]  Jichun Chen,et al.  Hematopoiesis in 3 dimensions: human and murine bone marrow architecture visualized by confocal microscopy. , 2010, Blood.

[7]  H. Saito,et al.  Advances in the understanding of MYH9 disorders , 2010, Current opinion in hematology.

[8]  M. Piel,et al.  Confinement-Optimized 3-Dimensional T cell Amoeboid Motility is Modulated via Myosin IIA-Regulated Adhesions , 2010, Nature Immunology.

[9]  J. Kopp.  Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism? , 2010, Kidney international.

[10]  H. Kanegane,et al.  Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. , 2010, Kidney international.

[11]  Joseph E Italiano,et al.  PLATELET FORMATION , 2010 .

[12]  Miguel Vicente-Manzanares,et al.  Non-muscle myosin II takes centre stage in cell adhesion and migration , 2009, Nature Reviews Molecular Cell Biology.

[13]  M. Freund,et al.  Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. , 2009, Blood.

[14]  H. Schnaper,et al.  Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy. , 2009, Archives of pathology & laboratory medicine.

[15]  R. Adelstein,et al.  Nonmuscle myosin II moves in new directions , 2008, Journal of Cell Science.

[16]  R. Tiedt,et al.  Megakaryocyte-restricted MYH9 inactivation dramatically affects hemostasis while preserving platelet aggregation and secretion. , 2007, Blood.

[17]  Joseph E Italiano,et al.  Dynamic Visualization of Thrombopoiesis Within Bone Marrow , 2007, Science.

[18]  D. Ingber,et al.  The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. , 2007, Blood.

[19]  R. Adelstein,et al.  Loss of cell adhesion causes hydrocephalus in nonmuscle myosin II-B-ablated and mutated mice. , 2007, Molecular biology of the cell.

[20]  W. Vainchenker,et al.  Proplatelet formation is regulated by the Rho/ROCK pathway. , 2005, Blood.

[21]  J. Rogers,et al.  A genome-wide, end-sequenced 129Sv BAC library resource for targeting vector construction. , 2005, Genomics.

[22]  Josef D. Franke,et al.  Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. , 2005, Blood.

[23]  T. Naoe,et al.  Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice. , 2004, Biochemical and biophysical research communications.

[24]  Kenneth M. Yamada,et al.  Defects in Cell Adhesion and the Visceral Endoderm following Ablation of Nonmuscle Myosin Heavy Chain II-A in Mice* , 2004, Journal of Biological Chemistry.

[25]  Li-jun Ma,et al.  Model of robust induction of glomerulosclerosis in mice: importance of genetic background. , 2003, Kidney international.

[26]  R. Ravazzolo,et al.  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 , 2003, Medicine.

[27]  L. Holzman,et al.  Podocyte‐specific expression of cre recombinase in transgenic mice , 2003, Genesis.

[28]  J. Sellers,et al.  Mutations in Human Nonmuscle Myosin IIA Found in Patients with May-Hegglin Anomaly and Fechtner Syndrome Result in Impaired Enzymatic Function* , 2002, The Journal of Biological Chemistry.

[29]  P. Noris,et al.  Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9‐related disorders , 2002, British journal of haematology.

[30]  J. White,et al.  Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. , 2001, American journal of human genetics.

[31]  U Magrini,et al.  Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. , 2000, Nature genetics.

[32]  T. Ortel,et al.  Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly , 2000, Nature Genetics.

[33]  J. Hartwig,et al.  Blood Platelets Are Assembled Principally at the Ends of Proplatelet Processes Produced by Differentiated Megakaryocytes , 1999, The Journal of cell biology.

[34]  M. Elzinga,et al.  Studies on the distribution of cellular myosin with antibodies to isoform‐specific synthetic peptides , 1991, FEBS letters.

[35]  T. Pollard,et al.  Human platelet myosin. II. In vitro assembly and structure of myosin filaments , 1975, The Journal of cell biology.