Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia
Miao An, Yidong Liu, Ming Zhang, Kai Hu, Yan Jin, Shiran Xu, Hongxiang Wang & Mujun Lu, 16.03.2021
AN, Miao, et al. Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia. Journal of Assisted Reproduction and Genetics, 2021, S. 1-9.
Publication: https://doi.org/10.1007/s10815-021-02154-9
Disclaimer
The publication Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia by Miao An, Yidong Liu, Ming Zhang, Kai Hu, Yan Jin, Shiran Xu, Hongxiang Wang & Mujun Lu 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: Gene variants & Clinical characteristics
Genome: Targeted Genotyping
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0011961: Non-obstructive azoospermia |
668 |
Selection of monogenic genes for targeted NGS panels, supported by mouse modeling and clinical cases, used to screen 668 Chinese patients. |
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0001363: testis |
|
Micro-TESE outcomes for six patients with pathogenic mutations were performed |
Human |
|
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000216: Sertoli cell |
|
Eight of the patients had been examined for testicular histopathology: 5 patients showed partial or complete maturation arrest (MA); Patient A3600 and A2664 had Sertoli cell only (SCO) phenotype |
Human |
|
|
Data set 2: Deleterious function of NR5A1 mutations
Proteome: Functional Study
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0011961: Non-obstructive azoospermia |
6 |
Micro-TESE outcomes for six patients with pathogenic mutations were followed up. Functional assays were performed for two NR5A1 variants identified: p.I224V and p.R281C. |
Tissue Types
| BRENDA tissue ontology |
Maturity |
Description |
Species |
Replicates |
| BTO_0001363: testis |
|
Functional assays were performed for two NR5A1 variants identified: p.I224V and p.R281C |
Human |
|
