Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis. So far, only a few validated disease-associated genes have been reported. To address this gap, we performed whol...

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Detalhes bibliográficos
Autor principal: Wyrwoll, Margot J. (author)
Outros Autores: Temel, Şehime G. (author), Nagirnaja, Liina (author), Oud, Manon S. (author), Lopes, Alexandra M. (author), van der Heijden, Godfried W. (author), Heald, James S. (author), Rotte, Nadja (author), Wistuba, Joachim (author), Wöste, Marius (author), Ledig, Susanne (author), Krenz, Henrike (author), Smits, Roos M. (author), Carvalho, Filipa (author), Gonçalves, João (author), Fietz, Daniela (author), Türkgenç, Burcu (author), Ergören, Mahmut C. (author), Çetinkaya, Murat (author), Başar, Murad (author), Kahraman, Semra (author), McEleny, Kevin (author), Xavier, Miguel J. (author), Turner, Helen (author), Pilatz, Adrian (author), Röpke, Albrecht (author), Dugas, Martin (author), Kliesch, Sabine (author), Neuhaus, Nina (author), Aston, Kenneth I. (author), Conrad, Donald F. (author), Veltman, Joris A. (author), Friedrich, Corinna (author), Tüttelmann, Frank (author)
Formato: article
Idioma:eng
Publicado em: 2021
Assuntos:
Azoospermia
Cell Cycle Checkpoints
MaleI Infertility
Non-obstructive azoospermia (NOA)
Phenotype
Spermatogenesis
Spermatozoa
M1AP
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/7354
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7354

Texto Completo

http://hdl.handle.net/10400.18/7354

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