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

POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities.

Gene - 30 Jul 2024

Ding Yuxi, Chen Shuya, Jin Jing, Sun Yujun, Chu Chunfang, Kee Kehkooi, Xin Mingwei, Li Lin

Abstract excerpt

Various genetic variants have been found to be associated with the clinical onset of premature ovarian insufficiency (POI). However, when measured in vitro, the functional influence of the variants can be difficult to determine. By whole-exome sequencing (WES) of 93 patients with sporadic POI, we found a missense variant c.623G > A;p.R208H in the EIF4ENIF1 gene. In silico prediction of the variant using different...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Exome Sequencing
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Mutation, Missense

Share to Nucleocytoplasmic Transport Proteins

Share to Primary Ovarian Insufficiency

Share to Protein Biosynthesis

Source

Identifiers

PMID: 38604507
DOI: 10.1016/j.gene.2024.148456

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities.PMID 38604507Read ↗

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing.Semantic proximity Read ↗

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.Semantic proximity Read ↗

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early interventionSemantic proximity Read ↗

Landscape of pathogenic mutations in premature ovarian insufficiency.Semantic proximity Read ↗

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.Semantic proximity Read ↗

Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian InsufficiencySemantic proximity Read ↗

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiencySemantic proximity Read ↗

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.Semantic proximity Read ↗

Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes.Semantic proximity Read ↗

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.Semantic proximity Read ↗

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.Semantic proximity Read ↗

Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance.Semantic proximity Read ↗

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