3 documents found, page 1 of 1
The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axi...
Pimenta, Isabel; Mateus, Hugo; Rodrigues Manica, Santiago; Pinheiro-Torres, Rita; Neto, Agna; Domingues, Lúcia; Crespo, Carolina; Sardoo, AtlasFunding Information: This study was supported by the funding through project MyoSpA, from iNOVA4 health. PM was supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). Publisher Copyright: © Copyright © 2021 Pimenta, Mateus, Rodrigues-Manica, Pinheiro-Torres, Neto, Domingues, Lage Crespo, Sardoo, Machado, Branco, Silva and Pimen...
Thyroid cancer: The quest for genetic susceptibility involving dna repair genes
Santos, LS; Gomes, BC; Bastos, HN; Gil, OM; Azevedo, AP; Ferreira, TC; Limbert, E; Silva, SN; Rueff, JThe incidence of thyroid cancer (TC), particularly well-differentiated forms (DTC), has been rising and remains the highest among endocrine malignancies. Although ionizing radiation (IR) is well established on DTC aetiology, other environmental and genetic factors may also be involved. DNA repair single nucleotide polymorphisms (SNPs) could be among the former, helping in explaining the high incidence. To furth...
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan Afr...
Caroça, C; de Matos, TM; Ribeiro, D; Lourenço, V; Martins, T; Campelo, P; Fialho, G; Silva, SN; Paço, J; Caria, HelenaHearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of ...