Evidence map›Paper›PMID 35624308›Full record

ArticleCell death and differentiation2022

A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions.

Monica M Franca, Yazmine B Condezo, Maëva Elzaiat, Natalia Felipe-Medina, Fernando Sánchez-Sáez, Sergio Muñoz, Raquel Sainz-Urruela, M Rosario Martín-Hervás, Rodrigo García-Valiente, Manuel A Sánchez-Martín and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in Cell death and differentiation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Generation of Meiotic Mouse Models Using CRISPR/Cas9 Technology.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 6 institutions in 4 countries.

Monica M Franca *Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42 and SELA, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brasil.
Yazmine B Condezo *Molecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.ORCID 0000-0003-0774-3627
Maëva Elzaiat *Université Paris Cité, CNRS, Institut Jacques Monod, F-75013, Paris, France.
Natalia Felipe-MedinaMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.
Fernando Sánchez-SáezMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.ORCID 0000-0002-3720-5355
Sergio MuñozDNA Replication Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, E-28029, Madrid, Spain.
Raquel Sainz-UrruelaMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.ORCID 0000-0001-6969-2939
M Rosario Martín-HervásMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.
Rodrigo García-ValienteMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.
Manuel A Sánchez-MartínDepartamento de Medicina, Universidad de Salamanca, Salamanca, Spain.ORCID 0000-0001-8370-1336
Aurora AstudilloBiobanco del principado de Asturias, 33011, Oviedo, Spain.
Juan MendezDNA Replication Group, Molecular Oncology Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, E-28029, Madrid, Spain.ORCID 0000-0002-3235-2559
Elena LlanoMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain.
Reiner A VeitiaUniversité Paris Cité, CNRS, Institut Jacques Monod, F-75013, Paris, France. reiner.veitia@ijm.fr.ORCID 0000-0002-4100-2681
Berenice B MendoncaUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42 and SELA, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brasil. beremen@usp.br.ORCID 0000-0003-1762-1084
Alberto M PendásMolecular Mechanisms Program, Centro de Investigación del Cáncer and Instituto de Biología Molecular y Celular del Cáncer (CSIC-Universidad de Salamanca), Salamanca, Spain. amp@usal.es.ORCID 0000-0001-9264-3721
Universidad de Salamanca · ESCentre National de la Recherche Scientifique · FRSpanish National Cancer Research Centre · ESGobierno del Principado de Asturias · ESHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRUniversity of Chicago · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ovarian insufficiency (POI) causes female infertility by abolishing normal ovarian function. Although its genetic etiology has been extensively investigated, most POI cases remain unexplained. Using whole-exome sequencing, we identified a homozygous variant in RAD51B -(c.92delT) in two sisters with POI. In vitro studies revealed that this variant leads to translation reinitiation at methionine 64. Here, we show that this is a pathogenic hypomorphic variant in a mouse model. Rad51b

Indexed as

DNA-Binding ProteinsPrimary Ovarian InsufficiencyAnimalsChromosome AberrationsDNA RepairFemaleFibroblastsHumansMeiosisMiceDNA-Binding ProteinsRAD51B protein, mouse

Identifiers

PMID35624308
PMCPMC9751091
OpenAlexW4281990104

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.