4 documents found, page 1 of 1
TTC7B emerges as a novel risk factor for ischemic stroke through the convergenc...
Krug, T.; Gabriel, J.P.; Taipa, R.; Fonseca, B.V.; Domingues-Montanari, S.; Fernandez-Cadenas, I.; Manso, H.; Gouveia, L.O.; Sobral, J.; Albergaria, I.We hereby propose a novel approach to the identification of ischemic stroke (IS) susceptibility genes that involves converging data from several unbiased genetic and genomic tools. We tested the association between IS and genes differentially expressed between cases and controls, then determined which data mapped to previously reported linkage peaks and were nominally associated with stroke in published genome-...
Kalirin: a novel genetic risk factor for ischemic stroke
Krug, T.; Manso, H.; Gouveia, L.; Sobral, J.; Xavier, J.M.; Albergaria, I.; Gaspar, G.; Correia, M.; Viana-Baptista, M.; Simões, R.M.; Pinto, A.N.Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
De uma Convulsão com Rabdomiólise ao Diagnóstico Familiar de Doença de McArdle
Sousa, S.; Gabriel, J.P.; Pereira, L.; Lopes, A.; Quaresma, M.; Rocha, H.; Chorão, R.RESUMO As miopatias metabólicas são doenças provocadas por defeitos na utilização das reservas energéticas dos tecidos musculares. Apresentam-se por intolerância ao exercício, com fadiga ou mialgias e, por vezes, com mioglobinúria. A Doença de McArdle (doença de armazenamento do glicogénio tipo V) é uma doença deste grupo, com um modo de transmissão autossómico recessivo, causada por mutações no gene PYGM, loca...
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese pat...
Rosa, A.; Fonseca, B.V.; Krug, T.; Manso, H.; Gouveia, L.; Albergaria, I.; Gaspar, G.; Correia, M.; Viana-Baptista, M.; Simões, R.M.; Pinto, A.N.The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the c...