Discover Community Create You

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

Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans

28 Jun 2023

Abstract excerpt

Azoospermia is a significant cause of male infertility, with non-obstructive azoospermia (NOA) being the most severe type of spermatogenic failure. NOA is mostly caused by congenital factors, but our understanding of its genetic causes is very limited. Here, we identified a frameshift variant (c.201_202insAC, p.Tyr68Thrfs∗17) and two nonsense variants (c.1897C>T, p.Gln633∗; c.2005C>T, p.Gln669∗) in KCTD19...

Read the complete abstract on PubMed

Topics

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

Share to Renal and related cancers
Share to Reproductive Biology and Fertility
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37485353
DOI: 10.1016/j.isci.2023.107193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humansPMID 37485353Read ↗

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-obstructive Azoospermia in HumansSemantic proximity Read ↗

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans.Semantic proximity Read ↗

Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermiaSemantic proximity Read ↗

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.Semantic proximity Read ↗

<i>Tex11</i> Mutant Mouse Models of Human AzoospermiaSemantic proximity Read ↗

KCTD19 and its associated protein ZFP541 are independently essential for meiosis in male mice.Semantic proximity Read ↗

Bi-allelic variants in <i>TBC1D8</i> result in non-obstructive azoospermia in both humans and miceSemantic proximity Read ↗

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humansSemantic proximity Read ↗

TENT5D disruption causes oligoasthenoteratozoospermia and male infertility.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in TEX14 Causes Human Non-Obstructive Azoospermia by Disrupting the Assembly of Intercellular Bridges.Semantic proximity Read ↗

Induced pluripotent stem cell line from a mouse model of human azoospermia with a frameshift mutation Tex11_1260Ins(TT).Semantic proximity Read ↗

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.Semantic proximity Read ↗

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