Melas
Mostrando 13-24 de 39 artigos, teses e dissertações.
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13. Estudo associativo entre polimorfismos nos genes ND2 e ND3 que codificam para subunidades da NADH desidrogenase em DNA mitocondrial de pacientes esquizofrênicos
A esquizofrenia é uma doença neuropsiquiátrica que afeta cerca de 1% da população mundial e que, devido aos seus diversos sintomas, acarreta um enorme custo social direto (hospitalizações, atendimentos, medicações) e indireto (improdutividade, repercussões familiares). Os estudos de genética populacional indicam que a esquizofrenia tenha um compon
Publicado em: 2007
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14. Um estudo clínico, bioquímico, histoquímico e genético-molecular de pacientes com doenças do DNA mitocondrial
Introdução: As doenças mitocondriais apresentam características heterogêneas devido à própria natureza e função da mitocôndria, que possui o seu próprio DNA (mtDNA). A disfunção mitocondrial pode afetar um único órgão ou ser uma doença multissistêmica, de manifestação na infância ou na vida adulta, podendo ter um padrão de herança mate
Publicado em: 2007
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15. Avaliação sistematica dos aspectos clinicos e geneticos de pacientes com epilepsias mioclonicas progressivas
Progressive Mioclonic Epilepsies (PME) are arare heterogeneous group of genetically determined disorders characterized by epilepsy, mioclonic jerks and progressive neuroIogicaI decline including dementia and ataxia. There are five main disorders which can cause PME: Unverricht-Lundborg disease (ULD) and Lafora disease (LD), ceroides neuronal lipofuscinoses (
Publicado em: 2003
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16. Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae) from a False Killer Whale, Pseudorca crassidens (Cetacea: Delphinidae), Stranded on the Coast of Uruguay
Stenurus globicephalae Baylis et Daubney, 1925 (Nematoda: Pseudaliidae) was found in the cranial air sinuses of a false killer whale, Pseudorca crassidens (Owen), stranded on the coast of Uruguay in 1999. Although this species has been reported once in P. crassidens from the North Atlantic, this is the first record for South America. A total of 920 specimens
Memórias do Instituto Oswaldo Cruz. Publicado em: 2002-03
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17. Caracterização das principais mutações de ponto do DNA mitocondrial em um grupo de pacientes com doenças neurodegenerativas
Mitochondrial disease are genetic and clinic heterogeneous entities that are variable in age of onset, clinical severity and evolution. They are classified in abnormalities of nuclear DNA or mitochondrial DNA (mtDNA). Point mutations are found in mitochondrial genomes and most frequent phenotypes are MELAS (mitochondrial encephalomyopathy, lactic acidosis, a
Publicado em: 2002
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18. Composição floristica e estrutura fitossociologica da vegetação de cerrado e de transição entre cerrado e mata ciliar da estação experimental de Itirapina (SP)
Procedeu-se o levantamento florístico de uma área de cerrado que apresentou também uma transição de cerrado para mata ciliar, situada na Estação Experimental de Itirapina (SP), cujas coordenadas geográficas são 22°15 S e 47°49"W. 0 clima e do tipo mesotérmico de inverno seco, denominado Cwa, segundo a classificação de Koeppen e apresenta uma de
Publicado em: 1988
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19. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a mitochondrial disorder associated with heteroplasmic point mutations in the mitochondrial tRNA(Leu)(UUR) gene. While previous studies have shown that the MELAS mutation at nt-3243 results in impairments in mitochondrial protein synthesis and respiratory chain funct
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20. Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study
It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A→G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lacti
The American Society of Human Genetics.
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21. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.
The pathogenetic mechanism of the mitochondrial tRNA(LeuUUR) gene mutation responsible for the MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome was investigated in transformants obtained by transfer of mitochondria from three genetically unrelated MELAS patients into human mitochondrial DNA (mtDNA)-less (rho
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22. Codon-specific translational defect caused by a wobble modification deficiency in mutant tRNA from a human mitochondrial disease
Point mutations in the mitochondrial (mt) tRNALeu(UUR) gene are responsible for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a subgroup of mitochondrial encephalomyopathic diseases. We previously showed that mt tRNALeu(UUR) with an A3243G or T3271C mutation derived from patients with MELAS are deficient in a norm
National Academy of Sciences.
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23. Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis
The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase ch
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24. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.
The segregation of mutant and wild-type mtDNA was investigated in transformants constructed by transferring human mitochondria from individuals belonging to four pedigrees with the MELAS encephalomyopathy-associated mtDNA mutation (MELAS is mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) into human mtDNA-less (rho 0) cells.