Evidence map›Paper›PMID 41373726›Full record

ArticleInternational journal of molecular sciences2025

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.

Dmytro Sirokha, Alexey Rayevsky, Vitalii Kalynovskyi, Mykola Khalangot, Oksana Samson, Olexandra Gorodna, Krystyna Kwiatkowska, Chloe Mayere, Zaneta Lemanska, Amanda Kunik and 3 more

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In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

13 authors.

Dmytro SirokhaDepartment of Molecular Genetics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, 03143 Kyiv, Ukraine.ORCID 0000-0002-3855-9120
Alexey RayevskyDepartment of Molecular Genetics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, 03143 Kyiv, Ukraine.ORCID 0000-0002-7596-6294
Vitalii KalynovskyiEducational and Scientific Centre "Institute of Biology and Medicine", Taras Shevchenko National University of Kyiv, 03022 Kyiv, Ukraine.ORCID 0000-0001-6283-3567
Mykola KhalangotEndocrine Department, Shupyk National Healthcare University of Ukraine, 04112 Kyiv, Ukraine.ORCID 0000-0002-4632-5447
Oksana SamsonEndocrine Department, Shupyk National Healthcare University of Ukraine, 04112 Kyiv, Ukraine.ORCID 0000-0001-8449-4279
Olexandra GorodnaDepartment of Molecular Genetics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, 03143 Kyiv, Ukraine.ORCID 0000-0003-4956-8804
Krystyna KwiatkowskaInstitute of Human Genetics, Polish Academy of Sciences, 61-479 Poznan, Poland.ORCID 0000-0002-1782-4749
Chloe MayereDepartment of Genetic Medicine and Development, Faculty of Medicine, University of Geneva Medical School, 1206 Geneva, Switzerland.ORCID 0000-0002-9254-4886
Zaneta LemanskaInstitute of Human Genetics, Polish Academy of Sciences, 61-479 Poznan, Poland.ORCID 0000-0002-1733-0589
Amanda KunikInstitute of Human Genetics, Polish Academy of Sciences, 61-479 Poznan, Poland.ORCID 0009-0008-6708-6482
Serge NefDepartment of Genetic Medicine and Development, Faculty of Medicine, University of Geneva Medical School, 1206 Geneva, Switzerland.ORCID 0000-0001-5462-0676
Kamila Kusz-ZamelczykInstitute of Human Genetics, Polish Academy of Sciences, 61-479 Poznan, Poland.ORCID 0000-0002-6567-1193
Ludmila LivshitsDepartment of Molecular Genetics, Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, 03143 Kyiv, Ukraine.ORCID 0000-0001-5444-3964

Funding

National Academy of Sciences of Ukraine 0121U110054Simons Foundation 1290589Swiss National Science Foundation SCOPES IZ73Z0_152347/1
6 · The paper itself

Abstract

46,XY gonadal dysgenesis, characterised by absent or defective testicular development in individuals with a 46,XY karyotype, results from disruptions in the genetic programme governing testis determination and differentiation during embryogenesis. While monogenic causes explain approximately 50% of cases, emerging evidence suggests an oligogenic basis in some patients. However, many cases remain without a definitive molecular diagnosis. In this study, we investigated a patient with 46,XY gonadal dysgenesis to explore the underlying genetic aetiology. Whole-exome sequencing in the patient did not reveal any pathogenic variants in genes previously associated with this condition. Instead, it detected rare variants in

Indexed as

Cell Cycle ProteinsGonadal Dysgenesis, 46,XYIntracellular Signaling Peptides and ProteinsNerve Tissue ProteinsExome SequencingFemaleHumansMaleSertoli CellsTestisCDK5RAP2 protein, humanCell Cycle ProteinsIntracellular Signaling Peptides and ProteinsNerve Tissue Proteins46,XY gonadal dysgenesisCDK5RAP2oligogenic inheritanceSTARD9

Identifiers

PMID41373726
PMCPMC12692329

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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.