Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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.
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
13 authors.
Polina N TsabaiDepartment of Clinical Genetics, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997. polinatsabai@gmail.com.ORCID http://orcid.org/0000-0001-5110-0827
Nadezhda S PavlovaDepartment of Clinical Genetics, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0001-5619-2695
Taras V ShatylkoDepartment of Andrology and Urology, National Medica Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-3902-9236
Zaira Kh KumykovaDepartment of Pediatric and Adolescent Gynecology, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0001-7511-1432
Olga K StupkoLaboratory of Molecular Genetic Methods, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.
Taisya O KochetkovaLaboratory of Molecular Genetic Methods, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0003-0215-3636
Nataliia N LobanovaDepartment of Artificial Reproductive Technologies, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-0818-4073
Andrey Yu GoltsovLaboratory of Molecular Genetic Methods, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-4004-4214
Olga O LeukhinaLaboratory of Preimplantation Genetic Testing and Genetic Diagnostics, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0003-3852-0039
Jekaterina ShubinaLaboratory of Genomic Data Analysis, Institute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0003-4383-7428
Safar I GamidovDepartment of Andrology and Urology, National Medica Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-9128-2714
Elena V UvarovaDepartment of Pediatric and Adolescent Gynecology, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-3105-5640
Dmitry Yu TrofimovInstitute of Reproductive Genetics, National Medical Research Center for Obstetrics, Gynecology and Perinatology Named After Academician V.I. Kulakov, Ministry of Health of Russia, 4 Acad. Oparin St., Moscow, Russian Federation, 117997.ORCID http://orcid.org/0000-0002-1569-8486
Funding
Ministry of Health of the Russian Federation state assignment # 224013000745-6.
6 · The paper itself
Abstract
purposePremature ovarian insufficiency (POI) and non-obstructive azoospermia (NOA) are the most severe forms of infertility. Pathogenic variants in a number of genes cause both disorders in siblings. One of them is STAG3, which encodes a meiosis-specific subunit of a cohesin complex. Here, we searched for genetic cause of oligoasthenoteratozoospermia (OAT) and POI within one family.
methodsThe proband was a 16-year-old girl with secondary amenorrhea. She was diagnosed with hypergonadotropic hypogonadism and streak ovaries. She had normal karyotype 46,XX and no premutation in FMR1 gene. Her 28-year-old brother was diagnosed with severe oligoasthenoteratozoospermia (OAT) syndrome. The aneuploidy rate in his sperm was assessed by FISH assay and appeared to be extremely high with only 5% of morphologically normal spermatozoa being haploid. He had normal karyotype 46,XY and no AZF microdeletions.
resultsWhole exome sequencing identified two likely pathogenic heterozygous truncating variants in STAG3 gene, prevously described p.Arg926Ter and novel p.Glu1184Ter. Sanger sequencing showed that both the patient and her brother were compound heterozygotes.
conclusionIn this study, we suggest the association of the identified variants in STAG3 gene with OAT syndrome and POI and describe the third familial case of STAG3-related infertility.
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.
Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate. · full record | OpenQuestion