10 documents found, page 1 of 1
Contribution of TEX15 genetic variants to the risk of developing severe non-obs...
Guzmán-Jiménez, Andrea; González-Muñoz, Sara; Cerván-Martín, Miriam; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Santos-Ribeiro, SamuelBackground: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition...
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Se...
Cerván-Martín, Miriam; Bossini-Castillo, Lara; Guzmán-Jimenez, Andrea; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, GemaWe aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs228783...
Common genetic variation in KATNAL1 non-coding regions is involved in the susce...
Cerván‐Martín, Miriam; Bossini‐Castillo, Lara; Guzmán‐Jiménez, Andrea; Rivera‐Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; Romeu, GemaBackground: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single nucleotide polymorphisms in the development of male infertility as a consequence of seve...
Immune and spermatogenesis-related loci are involved in the development of extr...
Cerván-Martín, Miriam; Tüttelmann, Frank; Lopes, Alexandra M.; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Lujan, SaturninoWe 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...
Common genetic variation in KATNAL1 non‐coding regions is involved in the susce...
Cerván‐Martín, Miriam; Bossini‐Castillo, Lara; Guzmán‐Jiménez, Andrea; Rivera‐Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; Romeu, GemaBackground: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of seve...
Association Between Preexisting Versus Newly Identified Atrial Fibrillation and...
Bikdeli, Behnood; Jiménez, David; del Toro, Jorge; Piazza, Gregory; Rivas, Agustina; Fernández‐Reyes, José Luis; Sampériz, Ángel; Otero, RemediosBackground Atrial fibrillation (AF) may exist before or occur early in the course of pulmonary embolism (PE). We determined the PE outcomes based on the presence and timing of AF. Methods and Results Using the data from a multicenter PE registry, we identified 3 groups: (1) those with preexisting AF, (2) patients with new AF within 2 days from acute PE (incident AF), and (3) patients without AF. We assessed the...
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...
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment
Cerván-Martín, Miriam; Suazo-Sánchez, M. Irene; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, SamuelObjective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls fr...
Evaluation of Male Fertility-Associated Loci in a European Population of Patien...
Cerván-Martín, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, SamuelInfertility 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...
Ansiedad competitiva y clima motivacional en jóvenes futbolistas de competición...
Garcia-Mas, Alexandre; Palou, Pere; Smith, R. E.; Ponseti, Xavier; Almeida, Henrique Garcia Lopes de; Lameiras, João; Jiménez, Rafael; Leiva, AliciaThis study analysed the relationships between competitive anxiety (both cognitive and somatic) and perceived motivational climate (ego and mastery) in 54 young competitive soccer players (mean age: 9.45 years), related to their four coaches’ perceptions of the soccer players’ skills and performance. We administered the Spanish versions of the SAS-2 (Sport Anxiety Scale-2, Smith, Smoll, Cumming and Grossbard, 20...