3 documents found, page 1 of 1
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, CT; Conceição, IC; Oliveira, B; Coelho, J; Sousa, I; Sequeira, AF; Almeida, J; Café, C; Duque, F; Mouga, S; Roberts, W; Gao, K; Lowe, JKBACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. ...
Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese pat...
Rosa, A; Fonseca, BV; Krug, T; Manso, H; Gouveia, L; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RM; Pinto, AN; Taipa, RBACKGROUND: 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 ...
Kalirin: a novel genetic risk factor for ischemic stroke
Krug, T; Manso, H; Gouveia, L; Sobral, J; Xavier, JM; Albergaria, I; Gaspar, G; Correia, M; Viana-Baptista, M; Simões, RN; Pinto, AN; Taipa, RCerebrovascular 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...