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

Novel LHX8 variants associated with distinctive oocyte morphological abnormalities and maturation arrest in primary infertility.

Journal of ovarian research - 21 Jan 2026

Sako Yusuke, Inagaki Hidehito, Yanagihara Akira, Kinoshita Koichi, Nakayama Kaname, Mio Yasuyuki, Yumoto Keitaro, Hirata Rei, Habara Toshihiro, Nishizawa Haruki, Kurahashi Hiroki

Abstract excerpt

BACKGROUND: LHX8 gene encodes a germ cell specific transcription factor that is required for oocyte development. We evaluated two unrelated women with primary infertility who showed reproducible oocyte abnormalities across in vitro fertilization cycles, and we performed genomic and functional assays to clarify the role of LHX8. RESULTS: Whole exome sequencing identified heterozygous loss-of-function variants in...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infertility, Female

Share to LIM-Homeodomain Proteins

Share to Oocytes

Share to Pedigree

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 41566502
DOI: 10.1186/s13048-026-01978-2
PMCID: PMC12911217

Genes

LHX8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel LHX8 variants associated with distinctive oocyte morphological abnormalities and maturation arrest in primary infertility.PMID 41566502Read ↗

Novel LHX8 variants associated with distinctive oocyte morphological abnormalities and maturation arrest in primary infertilitySemantic proximity Read ↗

Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility.Semantic proximity Read ↗

Novel PATL2 variants cause female infertility with oocyte maturation defect.Semantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Novel NUP210L Variants Cause Fertilization Failure and Male Infertility in Humans.Semantic proximity Read ↗

Genetic landscape of human oocyte/embryo defectsSemantic proximity Read ↗

Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation ArrestSemantic proximity Read ↗

Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.Semantic proximity Read ↗

Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.Semantic proximity Read ↗

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated miceSemantic proximity Read ↗

Strategies to Identify Genetic Variants Causing Infertility.Semantic proximity Read ↗

Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserveSemantic proximity Read ↗

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