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Registros recuperados: 6
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A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia BJMBR
Fanganiello,R.D.; Kimonis,V.E.; Côrte,C.C.; Nitrini,R.; Passos-Bueno,M.R..
Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Frontotemporal dementia; VCP gene mutations; Myopathy; Paget disease of bone.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400016
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Atividade sérica das enzimas AST, CK e GGT em cavalos Crioulos. Repositório Alice
FRANCISCATO, C.; LOPES, S.T. dos A.; VEIGA, A.P.M.; MARTINS, D.B.; EMANUELLI, M.P.; OLIVEIRA, L.S.S..
O objetivo deste trabalho foi verificar a influência da idade, sexo, manejo e estado gestacional sobre a atividade sérica das enzimas: aspartato aminotransferase (AST), creatina quinase (CK) e gama-glutamiltransferase (GGT) em cavalos da raça Crioula. Foram utilizados 142 eqüinos, divididos em seis grupos: potros até um ano de idade; cavalos adultos em regime de atividade livre; cavalos adultos em treinamento; machos adultos; fêmeas não gestantes; fêmeas gestantes. O valor da CK foi mais elevado em animais adultos do que em potros, o mesmo tendo ocorrido em animais em atividade livre, comparados a animais em treinamento. Fêmeas não gestantes apresentaram valores das enzimas CK e GGT maiores que os machos; o valor da CK em fêmeas gestantes foi mais elevado...
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Bioquímica sérica; Enzimas musculares; Doenças hepáticas; Miopatia; Serum biochemistry; Muscular enzyme; Hepatic disease; Myopathy.
Ano: 2006 URL: http://www.alice.cnptia.embrapa.br/handle/doc/122458
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Desmin: molecular interactions and putative functions of the muscle intermediate filament protein BJMBR
Costa,M.L.; Escaleira,R.; Cataldo,A.; Oliveira,F.; Mermelstein,C.S..
Desmin is the intermediate filament (IF) protein occurring exclusively in muscle and endothelial cells. There are other IF proteins in muscle such as nestin, peripherin, and vimentin, besides the ubiquitous lamins, but they are not unique to muscle. Desmin was purified in 1977, the desmin gene was characterized in 1989, and knock-out animals were generated in 1996. Several isoforms have been described. Desmin IFs are present throughout smooth, cardiac and skeletal muscle cells, but can be more concentrated in some particular structures, such as dense bodies, around the nuclei, around the Z-line or in costameres. Desmin is up-regulated in muscle-derived cellular adaptations, including conductive fibers in the heart, electric organs, some myopathies, and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Desmin; Intermediate filaments; Muscle; Myogenesis; Myopathy.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001200007
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Muscular microRNA expressions in healthy and myopathic horses suffering from polysaccharide storage myopathy or recurrent exertional rhabdomyolysis Inra
Barrey, E.; Bonnamy, B; Barrey, E.J.; Mata, X.; Chaffaux, S.; Guérin, G..
Reasons for performing study: MicroRNAs (miRNA) are small endogenous noncoding interfering RNA molecules (18–25 nucleotides) regarded as major regulators in eukaryotic gene expression. They play a role in developmental timing, cellular differentiation, signalling and apoptosis pathways. Because of the central function of miRNAs in the proliferation and differentiation of the myoblasts demonstrated in mouse and man, it is assumed that they could be present in equine muscles and their expression profile may be related to the muscle status.Objective: To identify miRNA candidates in the muscles of control and affected horses suffering from polysaccharide storage myopathy (PSSM) and recurrent exertional rhabdomyolysis (RER).Methods: Muscle biopsies were...
Tipo: Journal Article Palavras-chave: Horse; Transcriptomic; MiRNA profile; Myopathy; RER; PSSM.
Ano: 2010 URL: http://www.prodinra.inra.fr/prodinra/pinra/doc.xsp?id=PROD2010aa2098f0&uri=/notices/prodinra1/2011/02/
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Practical Assessment of Spaghetti Breast in Diverse Genetic Strain Broilers Reared under Different Environments Rev. Bras. Ciênc. Avic.
Montagna,FS; Garcia,G; Nääs,IA; Lima,NDS; Caldara,FR.
ABSTRACT Brazilian processing plants have identified the so-calledspaghetti breast myopathy characterized by muscular dystrophy of unknown etiology. This study aimed at estimating the incidence of spaghetti breast myopathyin broilers from three commercial genetic strains (Ross, Cobb, Hubbard) reared in two different housing systems (DH, Dark house, and TS, Tunnel system), presenting different controlled ventilation systems and light availability. Breast meat samples (n=5,580) were collected and macroscopically evaluated for spaghetti breast myopathy according to a 0-2 scale, as 0 = normal, 1 = intermediate or moderate, and 2 = severe. A higher number of broilers reared in DH presented normal breasts and moderate myopathy relative to TS-reared birds. Ross...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Muscle structure; Pectoralis major; Rearing environment; Genetic strain; Myopathy.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2019000200316
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Whole transcriptome analysis of pectoralis major muscle reveals differences in calcium signaling pathway between white striping affected and unaffected broilers. Repositório Alice
MARCHESI, J. A. P.; IBELLI, A. M. G.; CANTAO, M. E.; ZANELLA, R.; SETTLES, M. L.; PEIXOTO, J. de O.; COUTINHO, L. L.; LEDUR, M. C..
2015
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: RNA Seq; Muscle disorder; Myopathy; Differentially expressed genes; Gallus gallus.
Ano: 2015 URL: http://www.alice.cnptia.embrapa.br/handle/doc/1033769
Registros recuperados: 6
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