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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 ...
Prevalence of the E321G MYH1 variant in Brazilian Quarter Horses
(2021-01-01)
Background: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the ...
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 ...
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, ...
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 ...
Rol de la cadena pesada de la miosina no muscular IIA en la infección viral
(Universidad ORT Uruguay, 2023)
El siguiente trabajo final de carrera se desarrolló en el Laboratorio de Interacciones Virus-Célula del Institut Pasteur de Montevideo, bajo la tutoría de un profesional del área. El objetivo general fue analizar el rol ...