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Immune and Spermatogenesis-Related Loci are Involved in the Development of Extr...
Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JAWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, name...
Known mutations at the cause of Alpha-1 antitrypsin deficiency an updated overv...
Seixas, S; Marques, PIAlpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend. However, this condition, which is characterized by reduced serum levels of alpha-1-anti- trypsin (AAT) and associated with increased risks of pulmonary emphysema and liver disease in both children and adults, remains frequently underdiagnosed. AATD clinical...
Comparative analysis of the bronchoalveolar microbiome in Portuguese patients w...
Seixas, S; Kolbe, AR; Gomes, S; Sucena, M; Sousa, C; Vaz Rodrigues, L; Teixeira, G; Pinto, P; Tavares de Abreu, T; Bárbara, C; Semedo, J; Mota, LThe lung is inhabited by a diverse microbiome that originates from the oropharynx by a mechanism of micro-aspiration. Its bacterial biomass is usually low; however, this condition shifts in lung cancer (LC), chronic obstructive pulmonary disease (COPD) and interstitial lung disease (ILD). These chronic lung disorders (CLD) may coexist in the same patient as comorbidities and share common risk factors, among whi...
Evaluation of male fertility-associated loci in a european population of patien...
Cerván-Martín, M; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Luján, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, AInfertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphi...
Profiling of lung microbiota discloses differences in adenocarcinoma and squamo...
Gomes, S; Cavadas, B; Ferreira, JC; Marques, PI; Monteiro, C; Sucena, M; Sousa, C; Rodrigues, LV; Teixeira, G; Pinto, P; Abreu, TT; Bárbara, CThe lung is a complex ecosystem of host cells and microbes often disrupted in pathological conditions. Although bacteria have been hypothesized as agents of carcinogenesis, little is known about microbiota profile of the most prevalent cancer subtypes: adenocarcinoma (ADC) and squamous cell carcinoma (SCC). To characterize lung cancer (LC) microbiota a first a screening was performed through a pooled sequencing...
Genes from the TAS1R and TAS2R families of taste receptors: Looking for signatu...
Valente, C; Alvarez, L; Marques, PI; Gusmão, L; Amorim, A; Seixas, S; Prata, MJTaste perception is crucial in monitoring food intake and, hence, is thought to play a significant role in human evolution. To gain insights into possible adaptive signatures in genes encoding bitter, sweet, and umami taste receptors, we surveyed the available sequence variation data from the 1000 Genomes Project Phase 3 for TAS1R (TAS1R1-3) and TAS2R (TAS2R16 and TAS2R38) families. Our study demonstrated that ...