Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
Margot J. Wyrwoll, Sxehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. van der Heijden, James S. Heald, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, Joao Goncalves, Daniela Fietz, Burcu Turkgenc¸ Mahmut C. Ergoren, Murat Cetinkaya, Murad Basar, Semra Kahraman, Kevin McEleny, Miguel J. Xavier, Helen Turner, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, GEMINI Consortium, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann, 06.08.2020
WYRWOLL, Margot J., et al. Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility. The American Journal of Human Genetics, 2020, 107. Jg., Nr. 2, S. 342-351.
Publication: https://doi.org/10.1016/j.ajhg.2020.06.010
Repository: </br>PMID: 32673564</br>Link to preprint: <a href=https://doi.org/10.1101/803346>https://doi.org/10.1101/803346</a>
Disclaimer
The publication Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility by Margot J. Wyrwoll, Sxehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. van der Heijden, James S. Heald, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, Joao Goncalves, Daniela Fietz, Burcu Turkgenc¸ Mahmut C. Ergoren, Murat Cetinkaya, Murad Basar, Semra Kahraman, Kevin McEleny, Miguel J. Xavier, Helen Turner, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, GEMINI Consortium, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information,
conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1: Variants in M1AP
Exome: Whole Exome Sequencing
Conditions
Human phenotype ontology |
Participants |
Comment |
HP:0011961: Non-obstructive azoospermia |
11 |
3 from Germany, 1 from Croatia, 1 from Poland, 2 from Portugal, 1 from The Netherlands, 1 from The United Kingdom, 1 from Turkey, 1 from China (Tu et al., 2020) |
Data set 2: Testis RNA analysis
Transcriptome: Other
Conditions
Human phenotype ontology |
Participants |
Comment |
HP:0011961: Non-obstructive azoospermia |
1 |
c.676dup |
HP:control |
1 |
WT |
Tissue Types
BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
BTO_0001363: testis |
Adult |
|
Human |
2 |
Data set 3: Functional analysis
Proteome: Other
Cell Types
Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
|
|
Human cell line |
Human |
|
|