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Metabolic syndrome: from the genetics to the pathophysiology
(Springer, 2011-04)
The metabolic syndrome (MS) constitutes a combination of underlying risk factors for an adverse outcome, cardiovascular disease. Thus, the clinical behavior of the MS can be regarded as a whole. Nevertheless, from a ...
Common functional polymorphisms in SLC6A4 and COMT genes are associated with circadian phenotypes in a South American sample
(2014-01)
The molecular study of circadian rhythms in humans could be an excellent approach to understand the relation between genes and behavior. It is possible that variations in genes involved in neurotransmission and/or synaptic ...
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia
(John Wiley & SonsHoboken, 2013-08)
Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia ...
Participação do gene Alc11a1 na infecção por Paracoccidioides brasiliensis em linhagens de camundongos selecionados segundo a alta ou baixa reatividade inflamatória aguda
(Universidade Estadual Paulista (Unesp), 2007-05-18)
Camundongos selecionados para a máxima (AIRmax) ou mínima (AIRmin) reação inflamatória aguda apresentam desvio de freqüência do gene Slc11a1. Este gene está envolvido no transporte de íons divalentes no compartimento ...
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior
(2019)
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk ...