Conference
Presentation1_A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.PPTX
| العنوان: | Presentation1_A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.PPTX |
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| المؤلفون: | Xuefeng Xie, Mazhar Khan, Muhammad Zubair, Abbas Khan, Ranjha Khan, Jianteng Zhou, Yuanwei Zhang, Muzafar Said, Sher Ali Khan, Qamar Zaman, Ghulam Murtaza, Muzamil Ahmad Khan, Wei Liu, Xiaoning Hou, Huan Zhang, Bo Xu, Xiaohua Jiang, Shun Bai, Qinghua Shi |
| سنة النشر: | 2022 |
| المجموعة: | Frontiers: Figshare |
| مصطلحات موضوعية: | Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, DND1, male infertility, NOA, gene mutation, homozygous missense mutation |
| الوصف: | Non-obstructive azoospermia (NOA) is a severe factor of male infertility; it affects approximately 1% of the global male population and accounts for 40% of male infertility cases. However, the majority of NOA cases remain idiopathic. This is the first study using whole-exome sequencing (WES) to identify a novel missense mutation in the DND1 gene (c.212A>C, p. E71A) from a Pakistani family, that includes three males with NOA. This mutation is predicted to cause DND1 protein misfolding and weaken the DND1 interaction with NANOS2, a significant regulator in primordial germ cell development. Our study identified a DND1 pathogenic mutation in NOA patients and highlighted its critical role in male fertility in humans. |
| نوع الوثيقة: | conference object |
| اللغة: | unknown |
| Relation: | https://figshare.com/articles/presentation/Presentation1_A_homozygous_missense_variant_in_DND1_causes_non-obstructive_azoospermia_in_humans_PPTX/21249777 |
| DOI: | 10.3389/fgene.2022.1017302.s001 |
| الاتاحة: | https://doi.org/10.3389/fgene.2022.1017302.s001 https://figshare.com/articles/presentation/Presentation1_A_homozygous_missense_variant_in_DND1_causes_non-obstructive_azoospermia_in_humans_PPTX/21249777 |
| Rights: | CC BY 4.0 |
| رقم الانضمام: | edsbas.CF684C63 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fgene.2022.1017302.s001 |
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