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MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
(Elsevier Masson, 2013-01)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital ...
Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
(Schattauer Gmbh-verlag Medizin Naturwissenschaften, 2010-03)
MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. ...
MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
(Taylor & Francis, 2009-10)
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and ...
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
(Wiley-liss, Div John Wiley & Sons Inc, 2008-03)
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, ...
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease
(Taylor & Francis, 2006-12)
MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin ...
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family
(Sociedade Brasileira de Genética - SBGRibeirão Preto, 2014-11-14)
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray ...
Non-Muscle Myosin IIA (Myh9) is in the Nucleus of S-Phase Entering NT2-D1 Cells
(Lifescience Global, 2018-09)
Non-muscle myosin IIA is a cytoplasmic protein that works in concert with F-actin to produce cell movement. The heavy chain of this protein is codified by the MYH9 gene. The presence of motor proteins as myosin or mono and ...