Veronica Astro
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
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
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
Ilario De Toma
Sequentia Biotech SL, Barcelona, Spain
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Hams Saeed Alzahrani
Hams Saeed Alzahrani
Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Jumana Alama
Jumana Alama
Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
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Amal Kokandi
Amal Kokandi
Department of Dermatology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Taha Abo-Almagd Abdel-Meguid Hamoda
Taha Abo-Almagd Abdel-Meguid Hamoda
Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Majed Felemban
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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Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Antonio Adamo
Antonio Adamo
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
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North American (ENA) KS- and high-grade SCA patient-derived induced pluripotent stem cells (iPSCs) ( 10 , 11 , 12 , 13 , 14 , 15 ). Here, we present the first iPSC-based disease-modeling study performed on KS patients from Saudi Arabia. Saudi Arabia
Helene Bandsholm Leere Tallaksen
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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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
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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Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
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Jesper Just
Jesper Just
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
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Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
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Mette Hansen Viuff
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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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
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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Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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Anne Skakkebæk
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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Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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discuss the use of human-induced pluripotent stem cells (hiPSCs) isolated from SCAs and animal models as possible methods to gain further insight into the genomics of SCAs. Transcriptomics at single-cell resolution and spatial transcriptomics Single-cell
Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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B) to predict in whom microTESE will be helpful for either predicting who might have the possibility of sperm extraction or the presence of spermatogonial stem cells (SSCs). The closest to that is that the FSH levels are higher in those whose
Hong Tang
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
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
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
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
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
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
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
Linxia Li
Departments of Gynaecology and Obstetrics Seventh People’s Hospital of Shanghai University of Traditional Chinese Medicine, Shanghai, China
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ubiquitination of TRAF3 ( 21 ). Laura Novellasdemunt et al. reported that NEDD4 and NEDD4L regulate Wnt signaling and intestinal stem cell priming by degrading the LGR5 receptor ( 33 ). In the current study, we found that GPX4 is the direct target of NEDD4L
Pamela Stratton
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
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
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
Martha M Sklavos
Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA
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Blanche P Alter
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
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
Ligia A Pinto
Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA
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. FA cohort DC/TBD cohort overall DC/TBD cohort mild DC/TBD cohort severe DBA cohort Number of patients 9 21 13 8 14 Hematopoietic stem cell transplantation 6 6 3 3 1 Before AMH blood draw 5 0 0
Giuseppe Grande
Giuseppe Grande
Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy
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Andrea Graziani
Andrea Graziani
Department of Medicine, University of Padova, Padova, Italy
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Antonella Di Mambro
Antonella Di Mambro
Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy
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Riccardo Selice
Riccardo Selice
Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy
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Alberto Ferlin
Alberto Ferlin
Unit of Andrology and Reproductive Medicine, University Hospital of Padova, Padova, Italy
Department of Medicine, University of Padova, Padova, Italy
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Department of Medicine, University of Padova, Padova, Italy
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a role in stimulating bone resorption ( 72 , 73 , 74 , 75 ), by binding to its receptor FSHR on osteoclasts. Furthermore, FSH may negatively regulate osteoblast differentiation from mesenchymal stem cells ( 76 ). FSH plasma concentrations are
Claus H Gravholt
Claus H Gravholt
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
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Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
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Alberto Ferlin
Alberto Ferlin
Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Padova, Italy
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Joerg Gromoll
Joerg Gromoll
Centre of Reproductive Medicine and Andrology, Münster, Germany
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Anders Juul
Anders Juul
Department of Growth and Reproduction Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark
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Armin Raznahan
Armin Raznahan
Section on Developmental Neurogenomics, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA
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Sophie van Rijn
Sophie van Rijn
Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Anne Skakkebæk
Anne Skakkebæk
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
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Nicole Tartaglia
Nicole Tartaglia
Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Hanna Swaab
Hanna Swaab
Clinical Neurodevelopmental Sciences, Leiden University, Leiden, The Netherlands and TRIXY Center of Expertise, Leiden University Treatment and Expertise Centre (LUBEC), Leiden, The Netherlands
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multiple tissues, induced pluripotent stem cells (iPSC) and comparative studies from individuals with several syndromes ( 14 ). The emerging picture also shows that more studies will be needed to add a temporal dimension, i.e. understanding how genomics
Shanlee M Davis
Shanlee M Davis
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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Rhianna Urban
Rhianna Urban
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
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Angelo D’Alessandro
Angelo D’Alessandro
Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Julie A Reisz
Julie A Reisz
Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Christine L Chan
Christine L Chan
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Megan Kelsey
Megan Kelsey
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
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Susan Howell
Susan Howell
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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Nicole Tartaglia
Nicole Tartaglia
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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Philip Zeitler
Philip Zeitler
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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eXtraOrdinarY Kids Clinic, Children's Hospital Colorado, Aurora, Colorado, USA
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Peter Baker II
Peter Baker II
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA
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.1007/978-1-4939-9236-2_2 ) 16 Dong S Wang Q Kao YR Diaz A Tasset I Kaushik S Thiruthuvanathan V Zintiridou A Nieves E Dzieciatkowska M , Chaperone-mediated autophagy sustains haematopoietic stem-cell function . Nature 2021 591 117 – 123 . ( https
Małgorzata Więcek
Małgorzata Więcek
Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland
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Jakub Gawlik
Jakub Gawlik
Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland
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Zuzanna Nowak
Zuzanna Nowak
Student Scientific Society at the Department of Pathophysiology, Jagiellonian University Medical College, Krakow, Poland
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Aneta Gawlik
Aneta Gawlik
Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland
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chromosomes, and depending on the level of mosaicism (the proportion of affected cells to healthy ones), it can vary in severity ( 2 ). Short stature and primary ovarian failure (OF) are the hallmarks of TS, while it can also manifest with cardiac and renal
Ewa Stogowska
Ewa Stogowska
Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland
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Karol Adam Kamiński
Karol Adam Kamiński
Department of Population Medicine and Civilization Diseases Prevention, Medical University of Bialystok, Bialystok, Poland
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Bartosz Ziółko
Bartosz Ziółko
Techmo, Kraków, Poland
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Irina Kowalska
Irina Kowalska
Department of Internal Medicine and Metabolic Diseases, Medical University of Bialystok, Bialystok, Poland
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cycle abnormalities but also as voice changes, for instance, hoarseness ( 19 ). The possible mechanism of observed vocal symptoms might stem from vocal fold oedema due to the accumulation of mucopolysaccharides in lamina propria, cricothyroid muscle
