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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. 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: Identification of Novel NOA genes

Exome: Whole Exome Sequencing

Species

Species
Human

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

Species

Species
Human

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