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

A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.

Human molecular genetics - 26 Jun 2026

Xu Zhenhan, Lu Na, Guo Jintao, Lv Linyan, Hu Yun, Sun Guihua, Chen Haicheng, Xu Linan, Zeng Haitao, Liu Guihua

Abstract excerpt

Numerous actin-related proteins (ARPs) deficiencies have been confirmed to cause sperm acrosomal structural abnormalities, representing significant genetic factors in male infertility. We identified a patient with a missense mutation in ACTRT3, who presented with teratozoospermia and experienced embryonic developmental arrest following intracytoplasmic sperm injection (ICSI). Further analysis revealed...

Read the complete abstract on PubMed

Topics

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

Share to Fertilization
Share to Infertility, Male

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

Share to Mice, Knockout

Share to Mice, Transgenic

Share to Mutation, Missense

Share to Pregnancy

Share to Sperm Injections, Intracytoplasmic

Share to Spermatozoa

Source

Identifiers

PMID: 42391565
DOI: 10.1093/hmg/ddag057

Genes

ACTRT3
PLCZ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 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

A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.PMID 42391565Read ↗

Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in humanSemantic proximity Read ↗

Disruption in ACTL7A causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrestSemantic proximity Read ↗

Novel bi-allelic variants in ACTL7A are associated with male infertility and total fertilization failureSemantic proximity Read ↗

Characterization and therapy of fertilization failure in murine and human models with HNRNPR mutations.Semantic proximity Read ↗

Loss of perinuclear theca ACTRT1 causes acrosome detachment and severe male subfertility in miceSemantic proximity Read ↗

Loss of Profilin3 Impairs Spermiogenesis by Affecting Acrosome Biogenesis, Autophagy, Manchette Development and Mitochondrial OrganizationSemantic proximity Read ↗

Pathogenic variant in ACTL7A causes severe teratozoospermia characterized by bubble-shaped acrosomes and male infertilitySemantic proximity Read ↗

Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertilitySemantic proximity Read ↗

Actin-related protein ACTL7B ablation leads to OAT with multiple morphological abnormalities of the flagellum and male infertility in miceSemantic proximity Read ↗

Actl7a deficiency in mice leads to male infertility and fertilization failureSemantic proximity Read ↗

SPERM FACTORS AND EGG ACTIVATION: The phenotype of PLCZ1-deficient mice.Semantic proximity Read ↗

Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.Semantic proximity Read ↗

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