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Page 1
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A, Ma X, Savoia A, Adelstein RS. Pecci A, et al. Gene. 2018 Jul 20;664:152-167. doi: 10.1016/j.gene.2018.04.048. Epub 2018 Apr 19. Gene. 2018. PMID: 29679756 Free PMC article. Review.
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with other proteins. Variants of MYH9 cause an autosomal-dominant disorder, termed MYH9-related disease, and may be invo …
Non-muscle myosin IIA functions are regulated by phosphorylation of its 20 kDa light chain, of the heavy chain, and by interactions with oth …
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. NGS approaches have identified novel com …
Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, compleme …
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R. Furlano M, et al. Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):133-140. doi: 10.1016/j.nefro.2018.08.008. Epub 2018 Nov 22. Nefrologia (Engl Ed). 2019. PMID: 30471777 Free article. Review. English, Spanish.
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. ...The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal fail …
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. ...The …
MYH9-related platelet disorders.
Althaus K, Greinacher A. Althaus K, et al. Semin Thromb Hemost. 2009 Mar;35(2):189-203. doi: 10.1055/s-0029-1220327. Epub 2009 Apr 30. Semin Thromb Hemost. 2009. PMID: 19408192 Review.
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. ...This review provides a short history of MYH9-related disorders, summarizes the clinical and laboratory characteristics, describe …
Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. ...This revi …
CKD in MYH9-related disorders.
Singh N, Nainani N, Arora P, Venuto RC. Singh N, et al. Am J Kidney Dis. 2009 Oct;54(4):732-40. doi: 10.1053/j.ajkd.2009.06.023. Epub 2009 Sep 2. Am J Kidney Dis. 2009. PMID: 19726116 Review.
MYH9-related disorders are rare causes of chronic kidney disease (CKD) presenting as chronic glomerulonephritis and derive from mutations of the MYH9 gene, which encodes for the nonmuscle myosin heavy chain IIA. ...The purpose of this review is to focu …
MYH9-related disorders are rare causes of chronic kidney disease (CKD) presenting as chronic glomerulonephritis and der …
Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.
Bastida JM, Gonzalez-Porras JR, Rivera J, Lozano ML. Bastida JM, et al. Int J Mol Sci. 2021 Apr 21;22(9):4330. doi: 10.3390/ijms22094330. Int J Mol Sci. 2021. PMID: 33919295 Free PMC article. Review.
In the last decade, improvements in genetic testing have revolutionized the molecular diagnosis of inherited thrombocytopenias (ITs), increasing the spectrum of knowledge of these rare, complex and heterogeneous disorders. In contrast, the therapeutic management of ITs has …
In the last decade, improvements in genetic testing have revolutionized the molecular diagnosis of inherited thrombocytopenias (ITs), increa …
Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.
Asensio-Juárez G, Llorente-González C, Vicente-Manzanares M. Asensio-Juárez G, et al. Cells. 2020 Jun 12;9(6):1458. doi: 10.3390/cells9061458. Cells. 2020. PMID: 32545517 Free PMC article. Review.
The MYH9 gene encodes the heavy chain (MHCII) of non-muscle myosin II A (NMII-A). This is an actin-binding molecular motor essential for development that participates in many crucial cellular processes such as adhesion, cell migration, cytokinesis and polarization, mainten …
The MYH9 gene encodes the heavy chain (MHCII) of non-muscle myosin II A (NMII-A). This is an actin-binding molecular motor essential …
[Renal diseases related to MYH9 disorders].
Galeano D, Zanoli L, L'Imperio V, Fatuzzo P, Granata A. Galeano D, et al. G Ital Nefrol. 2017 Apr;34(2):40-57. G Ital Nefrol. 2017. PMID: 28682562 Review. Italian.
Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. ...In this r …
Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dom …
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA. Hussein BA, et al. Blood Coagul Fibrinolysis. 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. Blood Coagul Fibrinolysis. 2013. PMID: 23811802 Review.
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. ...
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets …
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.
Eichel Y, Tormos LM, Squires JE. Eichel Y, et al. Transfusion. 2016 Feb;56(2):349-53. doi: 10.1111/trf.13366. Epub 2015 Oct 7. Transfusion. 2016. PMID: 26446054 Review.
MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. ...Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in …
MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. ...Review of records revea …
22 results