[PDF] Top 20 Mitochondrial Energy-Deficient Endophenotype in Autism
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Mitochondrial Energy-Deficient Endophenotype in Autism
... with autism and mitochondrial dysfunction: Chromosomal rearrangements have proven to be critical landmarks in the development of our understanding of genetic ...recognized in a rare subset of ... See full document
10
Deficient induction response in a Xenopus nucleocytoplasmic hybrid.
... result in developmental arrest of hybrid and nucleocytoplasmic hybrid (cybrid) ...problems in embryonic genome activation (EGA) and/or nucleo-mitochondrial ...stage. In spite of this arrest, ... See full document
14
Metformin reduces hepatic expression of SIRT3, the mitochondrial deacetylase controlling energy metabolism.
... elevated in cells treated with glucagon and cAMP ...1d). In the next phase, we performed an in vivo ...necessary in rodents to reach plasma concentrations similar to those found in ... See full document
10
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.
... present in peripheral tissues as well as in brains of autistic patients ...and mitochondrial disorder (MD) ...defects in genes encoding the mitochondrial oxidative phos- phorylation ... See full document
24
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
... of Energy Metabolism (CIDEM) Lab, Cleveland ...determination in homogenates or muscle mitochondria were isolated from fresh muscle biopsy specimens with aliquots frozen for subsequent determination of ETC ... See full document
6
The biopsychosocial processes in autism spectrum disorder
... that, in individuals with autism, processing the stimulus of sight of a face occurs so that attention is paid to details, consistent with the pro- cessing of non-facial stimuli, such as objects - elements ... See full document
7
CoDAS vol.26 número3
... as autism, Rett syndrome (RS), Asperger syndrome (AS), pervasive developmental disorders not otherwise speciied (PDD-NOS), apraxia, mental retarda- tion (MR), and other syndromes ...approached in this study ... See full document
5
Rev. Bras. Psiquiatr. vol.28 número2
... disorder in an indivi- dual, that the effects of each single factor may be small but small effects may accumulate, and that once the combined effects of the factors pass some critical value the disorder may become ... See full document
2
Altered hematopoiesis in mice lacking DNA polymerase mu is due to inefficient double-strand break repair.
... repair in hematopoietic homeostasis has become increasingly clear in recent years ...alterations in specific hematopoietic ...deficiency in DNA repair enzymes allows mutations to accumulate ... See full document
15
Comparação dos instrumentos Childhood Autism Rating Scale e Autism Behavior Checklist na identificação e caracterização de indivíduos com distúrbios do espectro autístico.
... 5. Pereira AM, Wagner MB, Riesgo RS. Autismo infantil: Tradução e validação da CARS (Childhood Autism Rating Scale) para uso no Brasil [tese]. Porto Alegre: Universidade Federal do Rio Grande do Sul; 2007. 6. ... See full document
3
The functionality profile of children with Autistic Spectrum Disorders (ASD) in the Azores – communication, learning and autonomy
... stimulated in negotiation skills as a way of promoting responsibility and self-control (Silva, ...prognosis in the evolution of the functionality of children with neurodevelopmental disorders (Martins, ... See full document
8
SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.
... Labeling. Total RNA from each sample was used to prepare biotinylated target RNA using standard Affymetrix protocol (http://www.affymetrix.com/support/technical/manual/expression_ manual.affx) as previously described ... See full document
12
Intragenic initiation in SETD2 deficient cells
... RCC. In particular, mutations in the Von Hippel-Lindau (VHL) gene, chromosome 3p translo- cation and mutations in the succinate dehydrogenase B (SDHB) gene have been shown to play a role in ... See full document
92
Arq. NeuroPsiquiatr. vol.71 número11
... Childhood Autism Rating Scale (CARS) se comporta em relação à Autism Diagnostic Observation Schedule (ADOS) e ao diagnóstico clínico baseado nos critérios definidos pelo Manual Diagnóstico e estatístico dos ... See full document
6
Genes involved in the development of autism
... present in locus 15q21 and codes for a protein whose role is still not completely ...expressed in a subgroup of human neuronal and glial cells, being the first candidate gene for dyslexia and the second ... See full document
9
PRACTICAL ASPECTS OF FORMATION CORPORATE COMPETENCY MODEL
... of energy investments in the regions of the world, which allowed to carry out analysis of various types of energy production, focus on enerhozberezheni and renewable energy ...investing ... See full document
8
Mitochondrial DNA variants in obesity.
... Variation(s) in the exclusively maternally inherited mitochondrial DNA (mtDNA) might contribute to this parental ...association in a case-control (CC) sample of 1,158 extremely obese children and ... See full document
9
Suppression of Cpn10 increases mitochondrial fission and dysfunction in neuroblastoma cells.
... Altered mitochondrial dynamics are associated with mitochon- drial dysfunctions in neurodegenerative ...diseases. In this study, we showed that down-regulation of Cpn10 promotes mitochondrial ... See full document
7
Impaired bone formation in Pdia3 deficient mice.
... gotes were intercrossed to produce timed pregnancies. At 1 p.m., we checked the vaginal plug and considered it as E0.5. Embryos were isolated at different days of the pregnancy and stained with arcridine orange (Sigma, ... See full document
11
Arq. NeuroPsiquiatr. vol.67 número3A
... has been a signiicant increase in the proportion of XYY males detected prenatally, mostly as a fortuitous ind- ing. These patients are at considerably increased risk for delayed language and/or motor development, ... See full document
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