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Shiori Minabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Yahaba, Japan

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Kinuyo Iwata Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Youki Watanabe Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hirotaka Ishii Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan

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Hitoshi Ozawa Department of Anatomy and Neurobiology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
Faculty of Health Science, Bukkyo University, Kyoto, Japan

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KNDy gene expression in the mature female offspring The ARC KNDy gene expression was identified in the E2-primed OVX mature offspring ( Figs. 4A and B ). The total numbers of ARC Kiss1 -, Tac3 -, and Pdyn - expressing cells in the UN offspring

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Tristan Avril Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Quentin Hennocq Datascience platform, Imagine Institute, Université Paris Cité, Paris, France

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Anne-Sophie Lambert Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France

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Juliane Leger Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France

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Dominique Simon Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France

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Laetitia Martinerie Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France

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Claire Bouvattier Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France

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cells, and perhaps, by extension, for future fertility ( 3 , 4 , 5 , 6 ). Anti-Müllerian hormone (AMH) and Inhibin B are reliable biomarkers reflecting Sertoli cells function, while testosterone is an index of Leydig cell activation. Boys with CHH

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Christos Tsatsanis Department of Clinical Chemistry, School of Medicine, University of Crete, Heraklion, Crete, Greece
Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Institute of Molecular Biology and Biotechnology, FORTH, Heraklion, Greece

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Angel Elenkov Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Irene Leijonhufvud Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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Katerina Vaporidi Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden

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Åsa Tivesten Wallenberg Laboratory for Cardiovascular and Metabolic Research, Institute of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden

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Aleksander Giwercman Molecular Reproductive Research Group, Department of Translational Medicine, Lund University, Malmö, Sweden
Reproductive Medicine Centre, Skåne University Hospital Malmö, Malmö, Sweden

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immune responses and susceptibility to autoimmunity and inflammatory diseases. B-cell activating factor (BAFF) also known as tumor necrosis factor (TNF) ligand superfamily member 13B is a cytokine of the TNF family that is causally linked to the

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Hong Tang Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Xiaomei Jiang Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Yu Hua Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Heyue Li Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Chunlan Zhu Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Xiaobai Hao Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Minhui Yi Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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Linxia Li Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China

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was evaluated. To clarify its role, NEDD4L was overexpressed in KGN cells. qRT-PCR and western blotting were used to confirm the effectiveness of NEDD4L-OE ( Fig. 2A and B ). The CCK-8 assay and FDA staining were used to determine the cell viability

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Xiuhua Liao Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China

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Suqin Zhu Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Shumin Qiu Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Hua Cao Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Wenwen Jiang Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Huiling Xu Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Yan Sun Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China

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Beihong Zheng Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China
Fujian Maternal-Fetal Clinical Medicine Research Center, Fuzhou, China
Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China

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of our experiments. The cells or tissues to be analyzed were lysed using Lysis buffer (Beijing Biocytogen, P0013B) at 4°C for 30 min, and the total protein was obtained by sonication using an ultrasonic homogenizer. After measuring the protein

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Veronica Astro Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

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Elisabetta Fiacco Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

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Kelly Johanna Cardona-Londoño Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

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Ilario De Toma Sequentia Biotech SL, Barcelona, Spain

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Hams Saeed Alzahrani Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Jumana Alama Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia

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Amal Kokandi Department of Dermatology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Taha Abo-Almagd Abdel-Meguid Hamoda Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Majed Felemban Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia

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Antonio Adamo Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

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isolation from skin biopsies and somatic cell reprogramming Skin biopsies from five donors were cultured to establish fibroblast cell lines with 47,XXY and 46,XY karyotypes ( Table 1 , Fig. 1A ), as assessed by KaryoStat assay ( Fig. 1B and C ). The

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Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

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Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

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Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

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Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

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cell omics (A) or sectioned, stained, imaged and barcoded prior to sequencing for spatial RNA expression (B). If possible, clinical measurements should be obtained at the same time for the same individuals (C). Multi-omics and clinical measurements can

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Pamela Stratton Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

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Neelam Giri Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sonia Bhala Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Martha M Sklavos Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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Blanche P Alter Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Sharon A Savage Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

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Ligia A Pinto Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA

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inhibin B, but with high interpersonal variation: a cross-sectional study of the Sertoli cell hormones in 615 community-dwelling men . PLoS One 2013 8 e70967 . ( https://doi.org/10.1371/journal.pone.0070967 ) 22 van Brakel J de Muinck Keizer

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Yufen Zhao College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Erge Namei College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Bingxue Yang College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Xiangnan Bao Inner Mongolia Saikexing Institute of Breeding and Reproductive Biotechnology in Domestic Animal, Hohhot, PR China
National Center of Technology Innovation for Dairy Industry, Hohhot, PR China

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Wei Sun Inner Mongolia Saikexing Institute of Breeding and Reproductive Biotechnology in Domestic Animal, Hohhot, PR China

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Gerile Subudeng College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Guifang Cao College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Haijun Li College of Veterinary Medicine, Inner Mongolia Agricultural University, Hohhot, PR China
Key Laboratory of Animal Embryo and Development Engineering of Autonomous Region Universities, Inner Mongolia Agricultural University, Hohhot, PR China

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Gui Wang Animal Genetic Breeding and Reproduction Research Center, Hetao College, Bayannur, PR China

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Introduction Gap junctions, a type of cell membrane channel that exists in close contact sites between adjacent cells, allow the transfer and communication of ions and metabolites between cells, which is crucial for maintaining the normal

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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axis at level of ovary) Increased incidence of autoimmunity ↑LH, FSH to GnRH stimulation 47,XXY Tall stature (onset may be in mid-childhood) Mini-puberty-contradictory results Childhood-↑INH B; Accelerated germ cell loss at

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