Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Autor: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Publikováno v: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We

Externí odkaz: https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

Contributors

Autor: Lloyd Paul Aiello, Kyriaki S. Alatzoglou, Erik K. Alexander, Carolyn A. Allan, Bruno Allolio, Nobuyuki Amino, Bradley D. Anawalt, Peter Angelos, Valerie A. Arboleda, Richard J. Auchus, Lloyd Axelrod, Rebecca S. Bahn, H.W. Gordon Baker, MD, PhD, FRACP, Shlomi Barak, Randall B. Barnes, Andreas Barthel, Murat Bastepe, Emma K. Beardsley, Paolo Beck-Peccoz, Graeme I. Bell, Wenya Linda Bi, John P. Bilezikian, Manfred Blum, Steen J. Bonnema, Stefan R. Bornstein, Roger Bouillon, Andrew J.M. Boulton, Glenn D. Braunstein, F. Richard Bringhurst, Frank J. Broekmans, Marcello D. Bronstein, Edward M. Brown, Wendy A. Brown, Serdar E. Bulun, Henry B. Burch, Henry G. Burger, Richard O. Burney, Morton G. Burt, Enrico Cagliero, Glenda G. Callender, Maria Luiza Avancini Caramori, Robert M. Carey, Tobias Carling, Francesco Cavagnini, Jerry D. Cavallerano, Etienne Challet, Shu Jin Chan, R. Jeffrey Chang, Roland D. Chapurlat, V. Krishna Chatterjee, Francesco Chiofalo, Luca Chiovato, Kyung J. Cho, Emily Christison-Lagay, Daniel Christophe, George P. Chrousos, John A. Cidlowski, David R. Clemmons, Robert V. Considine, Marco Conti, Georges Copinschi, Kyle D. Copps, Michael A. Cowley, Leona Cuttler, Mehul T. Dattani, Stephen N. Davis, Mario De Felice, Leslie J. De Groot, David M. de Kretser, Ralph A. DeFronzo, Ahmed J. Delli, Marie B. Demay, Michael C. Dennedy, Roberto Di Lauro, Rosemary Dineen, Su Ann Ding, Sean F. Dinneen, Daniel J. Drucker, Jacques E. Dumont, Kathleen M. Dungan, Ian F. Dunn, Michael J. Econs, David A. Ehrmann, Graeme Eisenhofer, Berrin Ergun-Longmire, Erica A. Eugster, Sadaf I. Farooqi, Martin Fassnacht, Bart C.J.M. Fauser, Gianfranco Fenzi, Ele Ferrannini, David M. Findlay, Courtney Anne Finlayson, Delbert A. Fisher, Isaac R. Francis, Mason W. Freeman, Lawrence A. Frohman, Mark Frydenberg, Peter J. Fuller, Jason L. Gaglia, Gianluigi Galizia, Thomas J. Gardella, Katharine C. Garvey, Harry K. Genant, Michael S. German, Evelien F. Gevers, Francesca Pecori Giraldi, Linda C. Giudice, Andrea Giustina, Anna Glasier, Francis H. Glorieux, Allison B. Goldfine, Louis J. Gooren, David F. Gordon, Karen A. Gregerson, Raymon H. Grogan, Milton D. Gross, Ashley B. Grossman, Matthias Gruber, Valeria C. Guimarães, Mark Gurnell, Nadine G. Haddad, Daniel J. Haisenleder, David J. Handelsman, John B. Hanks, Mark J. Hannon, Erika Harno, Matthias Hebrok, Mark P. Hedger, Laszlo Hegedüs, Jerrold J. Heindel, Arturo Hernandez, Maria K. Herndon, Ken K.Y. Ho, Nelson D. Horseman, Ieuan A. Hughes, Christopher J. Hupfeld, Hero K. Hussain, Valeria Iodice, Benjamin C. James, J. Larry Jameson, Glenville Jones, Nathalie Josso, Harald Jüppner, Agata Juszczak, Jeffrey Kalish, Edwin L. Kaplan, Niki Karavitaki, Monika Karczewska-Kupczewska, Ahmed Khattab, David C. Klein, Ronald Klein, Gunnar Kleinau, Michaela Koontz, John J. Kopchick, Peter Kopp, Irina Kowalska, Stephen M. Krane, Knut Krohn, Henry M. Kronenberg, Elizabeth M. Lamos, Andrea Lania, Sue Lynn Lau, Edward R. Laws, John H. Lazarus, Diana L. Learoyd, Harold E. Lebovitz, Åke Lenmark, Edward O. List, Kate Loveland, David A. Low, Paolo E. Macchia, Noel K. Maclaren, Geraldo Madeiros-Neto, Carine Maenhaut, Christa Maes, Katharina M. Main, Carl D. Malchoff, Diana M. Malchoff, Rayaz A. Malik, Susan J. Mandel, Christos S. Mantzoros, Eleftheria Maratos-Flier, Michele Marino, John C. Marshall, T. John Martin, Thomas F.J. Martin, Christopher J. Mathias, Elizabeth A. McGee, Travis McKenzie, Robert I. McLachlan, Juris J. Meier, Shlomo Melmed, Boyd E. Metzger, Heino F.L. Meyer-Bahlburg, Robert P. Millar, Walter L. Miller, Madhusmita Misra, Mark E. Molitch, Molly B. Moravek, Damian G. Morris, Sapna Nagar, Jon Nakamoto, Maria I. New, Lynnette K. Nieman, John H. Nilson, Georgia Ntali, Moira O’Bryan, Stephen O’Rahilly, Kjell Öberg, Jerrold M. Olefsky, Matthew T. Olson, Karel Pacak, Furio Pacini, Shetal H. Padia, Ralf Paschke, Francisco J. Pasquel, Katherine Wesseling Perry, Luca Persani, Louis H. Philipson, Christian Pina, Frank B. Pomposelli, John T. Potts, Charmian A. Quigley, Marcus O. Quinkler, Christine Campion Quirk, Ewa Rajpert-De Meyts, Eric Ravussin, David W. Ray, Samuel Refetoff, Ravi Retnakaran, Rodolfo A. Rey, Christopher J. Rhodes, E. Chester Ridgway, Gail P. Risbridger, Robert A. Rizza, Bruce G. Robinson, Pierre P. Roger, Michael G. Rosenfeld, Robert L. Rosenfield, Peter Rossing, Robert T. Rubin, Ileana G.S. Rubio, Neil B. Ruderman, Jose Russo, Irma H. Russo, Isidro B. Salusky, Nanette Santoro, Kathleen M. Scully, Patrick M. Sexton, Gerald I. Shulman, Paolo S. Silva, Shonni J. Silverberg, Frederick R. Singer, Niels E. Skakkebaek, Malgorzata E. Skaznik-Wikiel, Dorota Skowronska-Krawczyk, Carolyn L. Smith, Philip W. Smith, Roger Smith, Steven R. Smith, Peter J. Snyder, Donald L. St. Germain, René St-Arnaud, Donald F. Steiner, Paul M. Stewart, Marek Strączkowski, Jerome F. Strauss, Dennis M. Styne, Karena L. Swan, Ronald S. Swerdloff, Lyndal J. Tacon, Javier A. Tello, Rajesh V. Thakker, Christopher J. Thompson, Henri J.L.M. Timmers, Jorma Toppari, Michael L. Traub, Michael A. Tsoukas, Robert Udelsman, Guillermo E. Umpierrez, Greet Van den Berghe, Gilbert Vassart, Ashley H. Vernon, Eric Vilain, Theo J. Visser, Paolo Vitti, Geoffrey A. Walford, Christina Wang, Anthony P. Weetman, Nancy L. Weigel, Gordon C. Weir, Roy E. Weiss, Anne White, Kenneth E. White, Morris F. White, Michael P. Whyte, Wilmar M. Wiersinga, Holger S. Willenberg, Joseph I. Wolfsdorf, Fredric E. Wondisford, Ka Kit Wong, John J. Wysolmerski, Mabel Yau, Morag J. Young, Lisa M. Younk, Run Yu, Tony Yuen, Martha A. Zeiger, Bernard Zinman, R. Thomas Zoeller

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::052e98fd342096e0bba7cb16e76034dd
https://doi.org/10.1016/b978-0-323-18907-1.01002-7