ArticleProceedings of the National Academy of Sciences of the United States of America2020
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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37citing papers in PubMed
3.3field-weighted citation impact, top 7% of its field
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Who cites it
37 citing papers in PubMed, 85 citations in OpenAlex.
- Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.BMC medical genomics · 2026Article
- Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis.Scientific reports · 2026Article
- Building a human pluripotent stem cell-based gonadal niche: improving in vitro systems with in vivo insights.Human reproduction update · 2025Review
- Imagining and Preventing the Future Existence of Bodies with Variations in Sex Characteristics.Archives of sexual behavior · 2025Article
- Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.Annals of pediatric endocrinology & metabolism · 2025Article
- Case Report: a novel variant inFrontiers in nephrology · 2025Article
- Clinical Characterization of a National Cohort of Patients With GermlineKidney international reports · 2024Article
- Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.Biology of sex differences · 2024Article
- Evidence for NR2F2/COUP-TFII involvement in human testis development.Scientific reports · 2024Article
- Analysis of sex-biased gene expression in a Eurasian admixed population.Briefings in bioinformatics · 2024Article
- Two redundant transcription factor binding sites in a single enhancer are essential for mammalian sex determination.Nucleic acids research · 2024Article
- [A case of 46,XX testicular disorders of sex development due to an apparent synonymous variant in theProblemy endokrinologii · 2024Article
- Testicular differentiation in 46,XX DSD: an overview of genetic causes.Frontiers in endocrinology · 2024Review
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.Frontiers in endocrinology · 2024Review
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2023Article
- Non-Apoptotic Programmed Cell Death in Thyroid Diseases.Pharmaceuticals (Basel, Switzerland) · 2022Review
- MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.Journal of clinical medicine · 2022Article
- Early Gonadal Development and Sex Determination in Mammal.International journal of molecular sciences · 2022Review
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Authors and funding
33 authors at 13 institutions in 9 countries.
Caroline EozenouHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France.
Nitzan GonenLaboratory of Stem Cell Biology and Developmental Genetics, The Francis Crick Institute, NW1 1AT London, United Kingdom.
Maria Sol TouzonEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.ORCID 0000-0003-0207-9552
Anne JorgensenDepartment of Growth and Reproduction, Copenhagen University Hospital (Rigshospitalet), 2100 Copenhagen, Denmark.
Svetlana A YatsenkoDepartment of Obstetrics, Gynecology & Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213.
Leila FuseeHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France.
Alaa K KamelDivision of Human Genetics and Genome Research, National Research Centre, Dokki, Cairo, 12622, Egypt.
Balazs GellenDepartment of Paediatrics, University of Szeged, 6725 Szeged, Hungary.ORCID 0000-0003-2237-3812
Gabriela GuercioEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.
Priti SinghDepartment of Biomedical Sciences, Cornell University, Ithaca, NY 14853.
Selma WitchelDepartment of Pediatrics, University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA 15213.
Andrea J BermanDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15213.
Rana MainpalDepartment of Obstetrics, Gynecology & Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213.ORCID 0000-0003-2458-7259
Mehdi TotonchiDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture and Research, 8158968433 Tehran, Iran.ORCID 0000-0002-7285-3155
Anahita Mohseni MeybodiDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture and Research, 8158968433 Tehran, Iran.
Masomeh AskariDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Academic Center for Education, Culture and Research, 8158968433 Tehran, Iran.
Tiphanie Merel-ChaliHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France.
Joelle Bignon-TopalovicHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France.
Roberta MigaleLaboratory of Stem Cell Biology and Developmental Genetics, The Francis Crick Institute, NW1 1AT London, United Kingdom.ORCID 0000-0001-8424-1060
Mariana CostanzoEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.
Roxana MarinoEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.ORCID 0000-0003-4737-3042
Pablo RamirezEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.
Natalia Perez GarridoEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.ORCID 0000-0002-6020-2056
Esperanza BerenszteinEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.ORCID 0000-0002-1997-6180
Mona K MekkawyDivision of Human Genetics and Genome Research, National Research Centre, Dokki, Cairo, 12622, Egypt.
John C SchimentiDepartment of Biomedical Sciences, Cornell University, Ithaca, NY 14853.ORCID 0000-0002-7294-1876
Rita Bertalan1st Department of Pediatrics, Semmelweis University, 1083 Budapest, Hungary.
Inas MazenDivision of Human Genetics and Genome Research, National Research Centre, Dokki, Cairo, 12622, Egypt.
Ken McElreaveyHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France.
Alicia BelgoroskyEndocrinology Department, Research Unit Garrahan Consejo Nacional de Investigaciones Cientificas y Tecnologicas, Hospital de Pediatría Garrahan, Ciudad Autonoma de Buenos Aires 1245, Argentina.
Robin Lovell-BadgeLaboratory of Stem Cell Biology and Developmental Genetics, The Francis Crick Institute, NW1 1AT London, United Kingdom.ORCID 0000-0001-9364-4179
Aleksandar RajkovicDepartment of Pathology, Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, CA 94158.
Anu BashambooHuman Developmental Genetics Unit, Institut Pasteur, 75724 Paris, France; anu.bashamboo@pasteur.fr.
Garrahan Hospital · ARInstitut Pasteur · FRNational Research Centre · EGRoyan Institute · IRUniversity of Pittsburgh · USCornell University · USThe Francis Crick Institute · GBBar-Ilan University · ILChildren's Hospital of Pittsburgh · USCopenhagen University Hospital · DKSemmelweis University · HUUniversity of California, San Francisco · USUniversity of Szeged · HU
Funding
Genomic Basis of Premature Ovarian InsufficiencyR01HD070647 · NICHD · MAGEE-WOMEN'S RES INST AND FOUNDATION · PI RAJKOVIC, ALEKSANDAR · 2012 to 2016
$2.6MMechanisms of mRNA regulation by La-related protein 1R01GM116889 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BERMAN, ANDREA J. · 2016 to 2021
$1.6MGenomic integrity of the X chromosome & Ovary-Specific Autosomal Genes R21HD074278 · NICHD · MAGEE-WOMEN'S RES INST AND FOUNDATION · PI RAJKOVIC, ALEKSANDAR · 2014 to 2015
$441kCancer Research UK FC001107Medical Research Council FC001107Medical Research Council U117512772NICHD NIH HHS R01 HD070647NICHD NIH HHS R21 HD074278NIGMS NIH HHS R01 GM116889Wellcome TrustWellcome Trust FC001107
Abstract
Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining gene
Indexed as
46, XX Testicular Disorders of Sex DevelopmentAnimalsbeta CateninChild, PreschoolFemaleHumansInfantMaleMiceOvaryTestisWT1 ProteinsZinc Fingersbeta CateninWT1 protein, humanWT1 protein, mouseWT1 Proteins46,XX TDSD/OTDSDorganogenesissex determinationWT1β-CATENIN
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