scholarly journals MYH9 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Myh9 Gene

scholarly journals MYH9 gene polymorphisms may be associated with cerebrovascular blood flow in patients with type 2 diabetes

2015 ◽  
Vol 14 (1) ◽  
pp. 1008-1016 ◽  
Author(s):  
C. Ling ◽  
C.Y. Cai ◽  
B.C. Chang ◽  
W.T. Shi ◽  
F.J. Wei ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Blood Flow ◽  
Gene Polymorphisms ◽  
Myh9 Gene

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

Cells ◽  
2020 ◽  
Vol 9 (6) ◽  
pp. 1458 ◽  
Author(s):  
Gloria Asensio-Juárez ◽  
Clara Llorente-González ◽  
Miguel Vicente-Manzanares
Keyword(s):  
Molecular Mechanisms ◽  
Clinical Presentation ◽  
Molecular Motor ◽  
Myosin Ii ◽  
Residual Activity ◽  
Cellular Level ◽  
Actin Binding ◽  
Compensatory Mechanisms ◽  
Myh9 Gene ◽  
Muscle Myosin

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, maintenance of cell shape and signal transduction. Several types of mutations in the MYH9 gene cause an array of autosomal dominant disorders, globally known as MYH9-related diseases (MYH9-RD). These include May-Hegglin anomaly (MHA), Epstein syndrome (EPS), Fechtner syndrome (FTS) and Sebastian platelet syndrome (SPS). Although caused by different MYH9 mutations, all patients present macrothrombocytopenia, but may later display other pathologies, including loss of hearing, renal failure and presenile cataracts. The correlation between the molecular and cellular effects of the different mutations and clinical presentation are beginning to be established. In this review, we correlate the defects that MYH9 mutations cause at a molecular and cellular level (for example, deficient filament formation, altered ATPase activity or actin-binding) with the clinical presentation of the syndromes in human patients. We address why these syndromes are tissue restricted, and the existence of possible compensatory mechanisms, including residual activity of mutant NMII-A and/or the formation of heteropolymers or co-polymers with other NMII isoforms.

Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene

2009 ◽  
Vol 52 (4) ◽  
pp. 191-194 ◽  
Author(s):  
Daniela De Rocco ◽  
Nuria Pujol-Moix ◽  
Alessandro Pecci ◽  
Flavio Faletra ◽  
Valeria Bozzi ◽  
...  
Keyword(s):  
Hot Spot ◽  
Crossing Over ◽  
Unequal Crossing Over ◽  
Related Disease ◽  
Myh9 Gene

A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations

2016 ◽  
Vol 95 (5) ◽  
pp. 831-833 ◽  
Author(s):  
Setsuri Yokoi ◽  
Shinji Kunishima ◽  
Yoshiyuki Takahashi ◽  
Masashi Morishita ◽  
Seiji Kojima
Keyword(s):  
Myh9 Gene

scholarly journals Double nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease

2004 ◽  
Vol 19 (1) ◽  
pp. 249-251 ◽  
Author(s):  
M. Capria ◽  
M. Andreucci ◽  
L. Fuiano ◽  
D. Mancuso ◽  
P. Cianfrone ◽  
...  
Keyword(s):  
Renal Disease ◽  
Young Patient ◽  
End Stage Renal Disease ◽  
Myh9 Gene ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Joanna Pazik ◽  
Monika Oldak ◽  
Dominika Oziębło ◽  
Dominika Dęborska Materkowska ◽  
Anna Sadowska ◽  
...  
Keyword(s):  
Myosin Heavy Chain ◽  
Heavy Chain ◽  
Gene Polymorphisms ◽  
Kidney Allograft ◽  
Allograft Dysfunction ◽  
Myh9 Gene ◽  
Muscle Myosin

Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May–Hegglin, Sebastian, Fechtner and Epstein syndromes)

2011 ◽  
Vol 32 (4) ◽  
pp. 474-477 ◽  
Author(s):  
Girolami Antonio ◽  
Vettore Silvia ◽  
Bonamigo Emanuela ◽  
Fabris Fabrizio
Keyword(s):  
Myh9 Gene
Sign in / Sign up

Export Citation Format

Share Document