Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.

Journal of medical genetics - 1 Oct 2021

Yao Chencheng, Yang Chao, Zhao Liangyu, Li Peng, Tian Ruhui, Chen Huixing, Guo Ying, Huang Yuhua, Zhi Erlei, Zhai Jing, Sun Hongfang, Zhang Jianxiong, Hong Yan, Zhang Li, Ji Zhiyong, Zhang Feng, Zhou Zhi, Li Zheng

Abstract excerpt

BACKGROUND: The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS: Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Azoospermia
Share to Cell Cycle Checkpoints

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Banding

Share to Exome Sequencing

Share to Immunohistochemistry

Share to Loss of Function Mutation

Share to Meiosis

Share to Testis

Source

Open in PubMed Open full text

Identifiers

PMID: 32900840
DOI: 10.1136/jmedgenet-2020-107042
PMCID: PMC8479749

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.PMID 32900840Read ↗

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermiaSemantic proximity Read ↗

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.Semantic proximity Read ↗

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermiaSemantic proximity Read ↗

Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencingSemantic proximity Read ↗

Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomesSemantic proximity Read ↗

Diverse Monogenic Subforms of Human Spermatogenic FailureSemantic proximity Read ↗

Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.Semantic proximity Read ↗

Diverse monogenic subforms of human spermatogenic failureSemantic proximity Read ↗

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectivesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.