Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C., 08.07.2022
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. Am J Hum Genet. 2022 Aug 4;109(8):1458-1471. doi: 10.1016/j.ajhg.2022.06.007. Epub 2022 Jul 8. PMID: 35809576; PMCID: PMC9388793.
Publication: https://doi.org/10.1016/j.ajhg.2022.06.007
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The publication Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure by Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. 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 recurrently mutated genes associated with spermatogenic failure
Exome: Exome Sequencing
Species
| Species |
|---|
| Human |
Conditions
| Human phenotype ontology | Participants | Comment |
|---|---|---|
| HP:0011961: Non-obstructive azoospermia | Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. | |
| HP:0030974: Cryptozoospermia | A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. |
Tissue Types
| BRENDA tissue ontology | Maturity | Description | Species | Replicates |
|---|---|---|---|---|
| BTO_0001363: testis | adult | A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity. | Human | 2354 |