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

DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis

3 Mar 2023

Abstract excerpt

CONTEXT: A genetic etiology accounts for the majority of unexplained primary ovarian insufficiency (POI). OBJECTIVE: We hypothesized a genetic cause of POI for a sister pair with primary amenorrhea. DESIGN: The study was an observational study. Subjects were recruited at an academic institution. SUBJECTS: Subjects were sisters with primary amenorrhea caused by POI and their parents. Additional subjects included...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Reproductive Biology and Fertility
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36869713
DOI: 10.1210/clinem/dgad126

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in OogenesisPMID 36869713Read ↗

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.Semantic proximity Read ↗

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

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

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.Semantic proximity Read ↗

Causal and Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian InsufficiencySemantic proximity Read ↗

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.Semantic proximity Read ↗

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of DiseaseSemantic proximity Read ↗

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian InsufficiencySemantic proximity Read ↗

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

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

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.Semantic proximity Read ↗

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain MutationSemantic proximity Read ↗

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