Genomes and Genes
Experts and Doctors on myosin heavy chains in Italy
Topic: myosin heavy chains
- Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, et al. New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscul Disord. 2012;22:640-7 pubmed publisher..Our study significantly broadens the clinical and pathological spectrum of Laing distal myopathy. We suggest that MYH7 screening should be considered in undiagnosed late-onset distal myopathy or cytoplasmic body myopathy patients. ..
- Danieli Betto D, Esposito A, Germinario E, Sandonà D, Martinello T, Jakubiec Puka A, et al. Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles. Am J Physiol Regul Integr Comp Physiol. 2005;289:R1328-37 pubmed..In conclusion, this study revealed profound distinctive biochemical and physiological modifications in fast- and slow-twitch muscles resulting from alpha-sarcoglycan deficiency. ..
- Maccatrozzo L, Patruno M, Toniolo L, Reggiani C, Mascarello F. Myosin heavy chain 2B isoform is expressed in specialized eye muscles but not in trunk and limb muscles of cattle. Eur J Histochem. 2004;48:357-66 pubmed..Interestingly, a cardiac isoform, MHC-a-cardiac was found to be expressed not only in extraocular muscles but also in masticatory muscles as masseter. ..
- Belloni E, Trubia M, Gasparini P, Micucci C, Tapinassi C, Confalonieri S, et al. 8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. Genes Chromosomes Cancer. 2005;42:320-5 pubmed..Thus, our data extend the involvement of FGFR1 in EMS and lend support to the concept that there is a precise correlation between genotype and phenotype in this disease. ..
- Noris P, Pecci A, Di Bari F, Di Stazio M, Di Pumpo M, Ceresa I, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica. 2004;89:1219-25 pubmed..By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia. ..
- Laragione T, Bonetto V, Casoni F, Massignan T, Bianchi G, Gianazza E, et al. Redox regulation of surface protein thiols: identification of integrin alpha-4 as a molecular target by using redox proteomics. Proc Natl Acad Sci U S A. 2003;100:14737-41 pubmed
- Ghiggeri G, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis. 2003;41:95-104 pubmed..Although it recently was shown that FTNS derives from mutation of MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA), its pathophysiological characteristics remain unknown...
- Di Pumpo M, Noris P, Pecci A, Savoia A, Seri M, Ceresa I, et al. Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica. 2002;87:943-7 pubmed..This defect could contribute to the bleeding tendency of these patients. The identification of a GPIb/IX/V defect in MHA-SBS platelets raises the question of the differential diagnosis from heterozygous Bernard-Soulier syndrome. ..
- Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri G, et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol. 2002;117:164-7 pubmed..Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders. ..
- Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, et al. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001;69:635-40 pubmed
- Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet. 2005;14:3169-78 pubmed..The finding that the same mutations act through different mechanisms in different cells is surprising and requires further investigation. ..
- Marini M, Bruschi M, Pecci A, Romagnoli R, Musante L, Candiano G, et al. Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease. Int J Mol Med. 2006;17:729-36 pubmed
- Pegoraro E, Gavassini B, Borsato C, Melacini P, Vianello A, Stramare R, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007;17:321-9 pubmed..In conclusion, phenotypic and histopathological variability may underlie MYH7 gene mutation and the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations. ..
- Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, 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. Medicine (Baltimore). 2003;82:203-15 pubmed..For this new nosologic entity, we propose the term "MHY9-related disease," which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects. ..
- Galluzzo P, Rastelli C, Bulzomi P, Acconcia F, Pallottini V, Marino M. 17beta-Estradiol regulates the first steps of skeletal muscle cell differentiation via ER-alpha-mediated signals. Am J Physiol Cell Physiol. 2009;297:C1249-62 pubmed publisher..All together, these data indicate that E(2) should be included in the list of skeletal muscle trophic factors. ..
- Roncarati R, Latronico M, Musumeci B, Aurino S, Torella A, Bang M, et al. Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. J Cell Physiol. 2011;226:2894-900 pubmed publisher..This finding, coupled to the clinical diversity of our cohort, emphasizes the complexity of HCM and the need for more inclusive investigative approaches in order to fully understand the pathogenesis of this disease...
- Pierno S, Desaphy J, Liantonio A, De Bellis M, Bianco G, De Luca A, et al. Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse. Brain. 2002;125:1510-21 pubmed..Pharmacological modulation of ClC-1 channels may help to prevent disuse-induced muscle impairment...