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Article

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Human mutation - 1 Jul 2010

Choi Youngsok, Jeon Sanghyun, Choi Mikyung, Lee Min-ho, Park Miseon, Lee Dong Ryul, Jun Kyu-Yeon, Kwon Youngjoo, Lee Ok-Hee, Song Seung-Hun, Kim Ji-Young, Lee Kyung-Ah, Yoon Tae Ki, Rajkovic Aleksandar, Shim Sung Han

Abstract excerpt

In a previous study, we found SOHLH1 (spermatogenesis and oogenesis-specific basic helix-loop-helix 1) as the first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation. SOHLH1 therefore represents an excellent candidate gene for testicular failure such as nonobstructive azoospermia (NOA). We analyzed whether there were mutations in the SOHLH1 gene in 96 Korean...

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Source

Identifiers

PMID: 20506135
DOI: 10.1002/humu.21264

Genes

SOHLH1
KIT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in SOHLH1 gene associate with nonobstructive azoospermia.PMID 20506135Read ↗

The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.Semantic proximity Read ↗

Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.Semantic proximity Read ↗

The heterozygous mutation of c.346-1G>A in SOHLH1 gene is irrelevant to nonobstructive azoospermiaSemantic proximity Read ↗

Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing.Semantic proximity Read ↗

Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.Semantic proximity Read ↗

A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.Semantic proximity Read ↗

Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.Semantic proximity Read ↗

MBOAT1 homozygous missense variant causes nonobstructive azoospermia.Semantic proximity Read ↗

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.Semantic proximity Read ↗

Sohlh1 is essential for spermatogonial differentiationSemantic proximity Read ↗

Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast ChinaSemantic proximity Read ↗

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