Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

Background 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,

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Veröffentlicht in:	Andrology (Oxford) 2021-07, Vol.9 (4), p.1151-1165
Hauptverfasser:	Cerván‐Martín, Miriam, Bossini‐Castillo, Lara, Rivera‐Egea, Rocío, Garrido, Nicolás, Luján, Saturnino, Romeu, Gema, Santos‐Ribeiro, Samuel, Castilla, José A., Gonzalvo, María del Carmen, Clavero, Ana, Vicente, Francisco Javier, Guzmán‐Jiménez, Andrea, Burgos, Miguel, Barrionuevo, Francisco Javier, Jiménez, Rafael, Sánchez‐Curbelo, Josvany, López‐Rodrigo, Olga, Peraza, María Fernanda, Pereira‐Caetano, Iris, Marques, Patrícia Isabel, Carvalho, Filipa, Barros, Alberto, Bassas, Lluís, Seixas, Susana, Gonçalves, João, Larriba, Sara, Lopes, Alexandra Manuel, Carmona, Francisco David, Palomino‐Morales, Rogelio Jesús, Pacheco, Alberto, González, Cristina, Gómez, Susana, Amorós, David, Aguilar, Jesus, Quintana, Fernando, Calhaz‐Jorge, Carlos, Aguiar, Ana, Nunes, Joaquim, Sousa, Sandra, Pinto, Maria Graça, Correia, Sónia
Format:	Artikel
Sprache:	eng
Schlagworte:	Gene expression genetic association study Genetic Predisposition to Disease Genome-Wide Association Study Humans impaired spermatogenesis Infertility, Male - genetics LIM Domain Proteins - genetics Male male infertility Microfilament Proteins - genetics Myotonin-Protein Kinase - genetics non‐obstructive azoospermia Peroxins - genetics Polymorphism, Single Nucleotide - genetics Portugal Receptors, Cytoplasmic and Nuclear - genetics Semen Analysis severe oligospermia Spain
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Beschreibung
Zusammenfassung:	Background 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,
ISSN:	2047-2919 2047-2927
DOI:	10.1111/andr.13009