5 documents found, page 1 of 1
Effect and in silico characterization of genetic variants associated with sever...
Cerván‐Martín, Miriam; Bossini‐Castillo, Lara; Rivera‐Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos‐Ribeiro, SamuelBackground: Severe spermatogenic failure (SpF) represents the most extreme manifestation of male infertility, as it decreases drastically the semen quality leading to either severe oligospermia (SO, <5 million spermatozoa/mL semen) or non-obstructive azoospermia (NOA, complete lack of spermatozoa in the ejaculate without obstructive causes). Objectives: The main objective of the present study is to analyze in t...
Comparative analysis of the bronchoalveolar microbiome in Portuguese patients w...
Seixas, Susana; Kolbe, Allison R.; Gomes, Sílvia; Sucena, Maria; Sousa, Catarina; Vaz Rodrigues, Luís; Teixeira, Gilberto; Pinto, PaulaThe 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...
Profiling of lung microbiota discloses differences in adenocarcinoma and squamo...
Gomes, Sílvia; Cavadas, Bruno; Ferreira, Joana Catarina; Marques, Patrícia Isabel; Monteiro, Catarina; Sucena, Maria; Sousa, CatarinaThe 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...
Sequence variation at KLK and WFDC clusters and its association to semen hyperv...
Marques, Patrícia Isabel; Fonseca, Filipa; Carvalho, Ana Sofia; Puente, Diana A.; Damião, Isabel; Almeida, Vasco; Barros, Nuno; Barros, AlbertoSTUDY QUESTION: Are kallikreins (KLKs), the whey-acidic-protein four-disulfide core domain (WFDCs) and their neighbors, semenogelins (SEMGs), known to play a role in the cascade of semen coagulation and liquefaction, associated with male infertility? SUMMARY ANSWER: Several KLK and SEMG variants are overrepresented among hyperviscosity, asthenozoospermia and oligozoospermia, supporting an effect of abnormal sem...
SERPINA2 is a novel gene with a divergent function from SERPINA1
Marques, Patrícia Isabel; Ferreira, Zélia; Martins, Manuella; Figueiredo, Joana; Silva, Diana Isabel; Castro, Patrícia; Morales-Hojas, RamiroSerine protease inhibitors (SERPINs) are a superfamily of highly conserved proteins that play a key role in controlling the activity of proteases in diverse biological processes. The SERPIN cluster located at the 14q32.1 region includes the gene coding for SERPINA1, and a highly homologous sequence, SERPINA2, which was originally thought to be a pseudogene. We have previously shown that SERPINA2 is expressed in...