Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
Csilla Krausz, PhD, Antoni Riera-Escamilla PhD, Daniel Moreno-Mendoza MD, Kaylee Holleman MSc, Francesca Cioppi MSc, Ferran Algaba MD, Marc Pybus PhD, Corinna Friedrich PhD, Margot J. Wyrwoll MD, Elena Casamonti PhD, Sara Pietroforte MSc, Liina Nagirnaja PhD, Alexandra M. Lopes PhD, Sabine Kliesch MD, Adrian Pilatz MD, Douglas T. Carrell PhD, Donald F. Conrad PhD, Elisabet Ars PhD, Eduard Ruiz-Castañé MD, Kenneth I. Aston PhD, Willy M. Baarends PhD & Frank Tüttelmann MD, 03.08.2020
KRAUSZ, Csilla, et al. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genetics in Medicine, 2020, 22. Jg., Nr. 12, S. 1956-1966.
Publication: https://doi.org/10.1038/s41436-020-0907-1
Disclaimer
The publication Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men by Csilla Krausz, PhD, Antoni Riera-Escamilla PhD, Daniel Moreno-Mendoza MD, Kaylee Holleman MSc, Francesca Cioppi MSc, Ferran Algaba MD, Marc Pybus PhD, Corinna Friedrich PhD, Margot J. Wyrwoll MD, Elena Casamonti PhD, Sara Pietroforte MSc, Liina Nagirnaja PhD, Alexandra M. Lopes PhD, Sabine Kliesch MD, Adrian Pilatz MD, Douglas T. Carrell PhD, Donald F. Conrad PhD, Elisabet Ars PhD, Eduard Ruiz-Castañé MD, Kenneth I. Aston PhD, Willy M. Baarends PhD & Frank Tüttelmann MD is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
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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: Identification of Novel NOA genes
Exome: Whole Exome Sequencing
Conditions
Human phenotype ontology |
Participants |
Comment |
HP:0011961: Non-obstructive azoospermia |
17 |
In our discovery cohort of TESE-negative MA patients, we identified a plausible genetic cause in (1) 4/5 patients with incomplete SGA, (2) 0/2 patients with incomplete SCA, and (3) all 10 patients with complete SCA. |
Data set 2: Genetic defects in complete SCA: TERB1, SHOC1, MSH4, RAD21L1, SYCE1, TEX11, MEIOB, MEI1, and STAG3
Other: Immunohistochemistry
Conditions
Human phenotype ontology |
Participants |
Comment |
HP:0031038: Spermatogenesis maturation arrest |
4 |
All investigated patients exhibit maturation arrest (MA); more precisely spermatocyte arrest (SCA) - Complete SCA sp- |
Tissue Types
BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
BTO_0001363: testis |
|
testis biopsy |
Human |
|