CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria

Autor: Isabelle, Rousseau-Nepton, Glenville, Jones, Karlpiet, Schlingmann, Martin, Kaufmann, Caroline S, Zuijdwijk, Karine, Khatchadourian, Indra R, Gupta, Danièle, Pacaud, Maury N, Pinsk, Arati, Mokashi, Munier A, Nour, R Todd, Alexander, Celia J, Rodd

Publikováno v: Hormone research in paediatrics. 94(3-4)

Biallelic pathogenic variants in CYPA24A1 and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dee6a508897f30459628018c3215eac2
https://pubmed.ncbi.nlm.nih.gov/34320495

Contributors

Autor: Veda L. Ackerman, P. David Adelson, Rachel S. Agbeko, Melvin C. Almodovar, Estella M. Alonso, Raj K. Aneja, Derek C. Angus, Andrew C. Argent, Francois P. Aspesberro, Adnan M. Bakar, Barbara Bambach, Lee M. Bass, Hülya Bayir, Pierre Beaulieu, Michael J. Bell, M.A. Bender, Jeffrey C. Benson, Wade W. Benton, Robert A. Berg, Darryl H. Berkowitz, Omar J. Bhutta, Katherine C. Biagas, Julie Blatt, Douglas L. Blowey, Jeffrey L. Blumer, John S Bradley, Barbara W. Brandom, Linda Brodsky, Thomas V. Brogan, Adam W. Brothers, Timothy E. Bunchman, Randall S. Burd, Jeffrey Burns, Sean P. Bush, Louis L. Bystrak, Angela J.P. Campbell, Christopher R. Cannavino, Joseph A. Carcillo, Hector Carrillo-Lopez, Antonio Cassara, Michael G. Caty, John R. Charpie, Adrian Chavez, John C. Christenson, Jonna D. Clark, Robert S.B. Clark, Katherine C. Clement, Jacqueline J. Coalson, Craig M. Coopersmith, Christopher P. Coppola, Seth J. Corey, Peter N. Cox, James J. Cummings, Martha A.Q. Curley, Marek Czosnyka, Christopher A. D’Angelis, Mary K. Dahmer, Heidi J. Dalton, Peter J. Davis, M. Theresa de la Morena, Cláudio Flauzino de Oliveira, Sonny Dhanani, Emily L. Dobyns, Elizabeth J. Donner, Lesley Doughty, Didier Dreyfuss, Christine Duncan, Philippe Durand, Susan Duthie, Howard Eigen, Waleed M. Maamoun El-Dawy, Steven Elliott, Helen M. Emery, Mauricio A. Escobar, Jacqueline M. Evans, Kate Felmet, Jeffrey R. Fineman, Ericka L. Fink, Richard T. Fiser, Frank A. Fish, James E. Fletcher, Michael J. Forbes, Amber E. Fort, Norman Fost, Joel E. Frader, Deborah E. Franzon, F. Jay Fricker, Stuart Friess, Bradley P. Fuhrman, Xiomara Garcia-Casal, France Gauvin, J. William Gaynor, Eli Gilad, James C. Gilbert, Nicole S. Glaser, Stuart L. Goldstein, Denise M. Goodman, Ana Lía Graciano, Björn Gunnarsson, Cecil D. Hahn, Mark Hall, Melinda Fiedor Hamilton, Yong Y. Han, Cherissa Hanson, Cary O. Harding, Mary E. Hartman, Jan A. Hazelzet, Christopher M.B. Heard, Ann Marie Heine, Lynn J. Hernan, Jeremy S. Hertzig, Mark J. Heulitt, Julien I.E. Hoffman, James C. Huhta, Rebecca Ichord, Andrew Inglis, Gretchen A. Linggi Irby, Brian Jacobs, David Jardine, Alberto Jarillo-Quijada, Etienne Javouey, Christa C. Jefferis Kirk, James A. Johns, Prashant Joshi, Richard J. Kagan, Prince J. Kannankeril, Robert K. Kanter, Oliver Karam, Kevin R. Kasten, Michael Kelly, Paritosh C. Khanna, Patrick M. Kochanek, Keith C. Kocis, Samuel A. Kocoshis, Ildiko H. Koves, Thomas J. Kulik, Vasanth H. Kumar, Jacques Lacroix, Satyan Lakshminrusimha, Joanne M. Langley, Peter C. Laussen, Daniel L. Levin, Mithya Lewis-Newby, Mary W. Lieh-Lai, Daphne Lindsey, Catherine Litalien, Robert E. Lynch, Amy T. Makley, James P. Marcin, Mary Michele Mariscalco, Barry Markovitz, Lynn D. Martin, Norma J. Maxvold, Paula M. Mazur, Jennifer A. McArthur, Jerry McLaughlin, Gwenn E. McLaughlin, Karen McNiece Redwine, Nilesh M. Mehta, Renuka Mehta, Ann J. Melvin, Sharad Menon, Ayesa N. Mian, Kelly Michelson, Kelly A. Michienzi, Patricia A. Moloney-Harmon, Paul Monagle, Michele M. Moss, Steven S. Mou, Jared T. Muenzer, Vinay Nadkarni, Thomas A. Nakagawa, Navyn Naran, Trung Nguyen, Carol E. Nicholson, Katie R. Nielsen, Tracie Northway, Victoria F. Norwood, Daniel A. Notterman, Jeffrey E. Nowak, Peter Oishi, Richard A. Orr, Yves Ouellette, Daiva Parakininkas, Margaret M. Parker, Tony Pearson-Shaver, J. Julio Pérez Fontán, Mark Peters, Catherine Pihoker, Maury N. Pinsk, Murray M. Pollack, Steven Pon, Michael Quasney, Surender Rajasekaran, Sally E. Rampersad, Suchitra Ranjit, Erin P. Reade, James J. Reese Jr., Monica Relvas, Kenneth E. Remy, Jean-Damien Ricard, Tom B. Rice, Debra Ann Ridling, Joan S. Roberts, Ashley S. Ross, Kimberly R. Roth, Alexandre T. Rotta, Mark E. Rowin, John Roy, Christopher M. Rubino, Randall A. Ruppel, Cynda H. Rushton, Rita M. Ryan, Rosanne Salonia, Joshua Salvin, Ronald C. Sanders Jr., Ajit A. Sarnaik, Ashok P. Sarnaik, Georges Saumon, Robert Sawin, Matthew C. Scanlon, Kenneth A. Schenkman, Stephen M. Schexnayder, Charles L. Schleien, George J. Schwartz, Steven M. Schwartz, Frank Shann, Dennis W.W. Shaw, Sam D. Shemie, Mish Shoykhet, V. Ben Sivarajan, Peter W. Skippen, Anthony D. Slonim, Laurie Smith, Lincoln S. Smith, Stephen W. Standage, Joel B. Steinberg, David M. Steinhorn, Sasko D. Stojanovski, Elizabeth A. Storm, Michael H. Stroud, Marc G. Sturgill, Robert M. Sutton, Jordan M. Symons, Muayyad Tailounie, Julie-An Talano, Robert Tamburro Jr., Robert C. Tasker, Ann E. Thompson, Ann H. Tilton, Alan Tinmouth, Joseph D. Tobias, Nicole H. Tobin, I. David Todres, Marisa Tucci, Kalia P. Ulate, Kevin M. Valentine, David J. Vaughan, Shekhar T. Venkataraman, Mihaela Visoiu, Amélie von Saint André–von Arnim, Mark S. Wainwright, Martin K. Wakeham, R. Scott Watson, Ashley N. Webb, Carl Weigle, Maria B. Weimer, David L. Wessel, Randall C. Wetzel, Hector R. Wong, Ellen G. Wood, Alan D. Woolf, James J. Woytash, Ofer Yanay, Arno Zaritsky, Danielle M. Zerr, Jerry J. Zimmerman

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d0db8a0ab4de5667da156ae05d6c292f
https://doi.org/10.1016/b978-0-323-07307-3.10126-0

Contributors

Autor: Cataldo Abaterusso, Stéphane P. Ahern, Maria Cristina Aisa, Robert C. Albright, Vicente Alfaro, Ali Al-Khafaji, Jean-Christophe Allo, Richard Amerling, Alessandro Amore, Robert J. Anderson, Michele Andreucci, Vittorio E. Andreucci, Emilios Andrikos, Vicente Arroyo, John M. Arthur, Stephen R. Ash, Emilio Assanelli, Filippo Aucella, Sean M. Bagshaw, Olga Balafa, André Luís Balbi, Ian Baldwin, Marco Ballestri, Joanne M. Bargman, Gina-Marie Barletta, Jeffrey F. Barletta, Libero Barozzi, Rashad S. Barsoum, Monica Beaulieu, Donna Beer-Stolz, Rinaldo Bellomo, Jose Bernardo, Michele Bertolotto, John T. Bestoso, Gerard A. Betro, Mallar Bhattacharya, Geoffrey R. Bihl, Stijn I. Blot, Willem Boer, Mirian A. Boim, Monica Bonello, Joseph V. Bonventre, A.D. Booth, Edmund Bourke, George Braitberg, Diego Brancaccio, Alessandra Brendolan, Brigida Brezzi, James C. Brodie, Patrick D. Brophy, Ryan Brown, Richard Bucala, Jonathan Buckmaster, Milos N. Budisavljevic, Timothy E. Bunchman, Emmanuel A. Burdmann, Benedetta Bussolati, Matthew A. Butkus, Daniela Buzzelli, Paolo Calzavacca, Giovanni Camussi, Bernard Canaud, Noël J.M. Cano, Vincenzo Cantaluppi, Giovambattista Capasso, Gianni Cappelli, Eleonora Carlesso, Francesco G. Casino, Leticia Castillo, Roberta Cerutti, Lakhmir S. Chawla, Chang Yin Chionh, Alexander Chiu, May T. Chow, Kirpal S. Chugh, Bruno Cianciaruso, Mauro Cignarelli, Yann-Erick Claessens, John A. Clark, William R. Clark, David J. Cohen, Scott D. Cohen, Peter Constable, Rosanna Coppo, Howard E. Corey, Mario Cozzolino, Maureen Craig, Carl H. Cramer, Mark Crandall, Paolo Cravedi, Carlo Crepaldi, R. John Crew, Donald F. Cronin, Dinna N. Cruz, Antonio Dal Canton, Maurizio Dan, Angela D'Angelo, Andrew Davenport, Andrew R. Davies, James W. Dear, Andrea De Gasperi, Roberto Dell'Aquila, Giorgio Della Rocca, Dorella Del Prete, Russell L. Delude, Thomas Depner, Lorenzo E. Derchi, Prasad Devarajan, Jan J. De Waele, Jean-François Dhainaut, José A. Diaz-Buxo, Lucia Di Micco, José Carolina Divino-Filho, Sarah Doernberg, Gordon S. Doig, David J. Dries, Francesco Maria Drudi, Wilfred Druml, Graeme Duke, Andrew Durward, Moritoki Egi, Ciro Esposito, Pieter Evenepoel, Teresa Faga, Sheung Tat Fan, Donald A. Feinfeld, Eric Féraille, Javier Fernández, Simon Finfer, Mitchell P. Fink, Kevin W. Finkel, Michael F. Flessner, Marco Formica, Lui G. Forni, James D. Fortenberry, Craig French, Roberto Fumagalli, Mario Furlanut, Micheline Djouguela Fute, Daniela Ponce Gabriel, Andrea Galassi, Miriam Galbusera, Francesco Galli, Giovanni Galli, Maurizio Gallieni, Giampiero Gallo, Giovanni Gambaro, Hilary S. Gammill, Ezio Nicola Gangemi, Dayong Gao, Susan Garwood, Francesco Garzotto, Antonietta M. Gatti, Luciano Gattinoni, John P. Geibel, Stephen George, Loreto Gesualdo, R.T. Noel Gibney, Debbie S. Gipson, Ilya G. Glezerman, Griet Glorieux, Stuart L. Goldstein, Thomas A. Golper, Manjula Gowrishankar, Fabio Grandi, Cesare Gregoretti, Brian W. Grinnell, A.B. Johan Groeneveld, Steven J. Gruber, Gualtiero Guadagni, Kyle J. Gunnerson, Akanksha Gupta, Victor Gura, Isabella Guzzo, Richard Hackbarth, Mitchell L. Halperin, Nikolas Harbord, Jean-Philippe Haymann, Alan C. Heffner, Anthony J. Hennessy, Samuel N. Heyman, Graham L. Hill, Philip J. Hilton, Jonathan Himmelfarb, Hiroyuki Hirasawa, Nicholas A. Hoenich, Stephen R. Holdsworth, Anthony Holley, Patrick M. Honoré, Eric A.J. Hoste, Andrew A. House, David T. Huang, Zhongping Huang, Rolf D. Hubmayr, Alun D. Hughes, H. David Humes, T. Alp Ikizler, Barbara Imberti, Todd S. Ing, Bertrand L. Jaber, Gérard Janvier, Arundhathi Jeyabalan, Vivekanand Jha, Olivier Joannes-Boyau, Michael Joannidis, Daryl A. Jones, Achim Jörres, Kamel S. Kamel, Ryan C. Kamp, Neeta Kannan, Lewis J. Kaplan, Özgür Karacan, Vijay Karajala-Subramanyam, Gur P. Kaushal, John A. Kellum, Markus J. Kemper, Asjad Khan, Ramesh Khanna, Vijay Kher, Paul L. Kimmel, Detlef Kindgen-Milles, A. Richard Kitching, Carl M. Kjellstrand, Orly F. Kohn, Laura A. Kooienga, Jeroen P. Kooman, Peter Kotanko, Raymond T. Krediet, A.A. Kroon, Dingwei Kuang, Martin K. Kuhlmann, Jan Willem Kuiper, Man-Fai Lam, Olga Lamacchia, Norbert Lameire, Christoph Langenberg, Gianfranco Lauri, Martine Leblanc, Ingrid Ledebo, Paolo Lentini, Edward F. Leonard, Jeffrey J. Letteri, Karel M. Leunissen, Xavier M. Leverve, Adeera Levin, John K. Leypoldt, Orfeas Liangos, Elisa Licari, Wilfred Lieberthal, Peter K. Linden, Jeffrey Lipman, Kathleen D. Liu, Shiguang Liu, Sergio Livigni, Wai-Kei Lo, Manuela Lugano, Sing-Leung Lui, Antonio Lupo, Valerie A. Luyckx, William L. Macias, Nicholas Madden, François Madore, Daniel S. Majors, Elena Mancini, Filippo Mangione, Sunil Mankad, Pier Paolo Manzini, Martino Marangella, Giancarlo Marenzi, Filippo Mariano, Paul E. Marik, John J. Marini, François Marquis, John C. Marshall, Mark R. Marshall, Roy Mathew, Kenichi Matsuda, Michael A. Matthay, Norma J. Maxvold, Clive N. May, Jerry McCauley, Maureen McCunn, Joseph McKenna, Ravindra L. Mehta, Caterina Mele, Aicha Merouani, Laurent Mesnard, Piergiorgio Messa, Philipp G.H. Metnitz, Madhukar Misra, Steffen R. Mitzner, Barry A. Mizock, Babak Mokhlesi, Bruce A. Molitoris, Andrea Morelli, Thomas John Morgan, Marina Morigi, Peter Mount, Roberto Pozzi Mucelli, Bruce A. Mueller, Patrick Murray, Raghavan Murugan, Masataka Nakamura, Federico Nalesso, Carla M. Nester, Allen Nissenson, Karl Nolph, Catalina Ocampo, Shigeto Oda, Mark D. Okusa, Steven M. Opal, Helen Opdam, Hartmut Osswald, Heleen M. Oudemans–van Straaten, Massimo A. Padalino, Matthew L. Paden, Emil P. Paganini, Paul M. Palevsky, Mani John Panat, Francesco Paolini, Dipen Parikh, Nicolò Patroniti, Pietro Pavlica, Didier Payen de La Garanderie, Federico Pea, Zhiyong Peng, Mark A. Perazella, Angelo F. Perego, Estela Regina Pereira, Evans R. Fernández Pérez, Norberto Perico, Nicoletta Pertica, Giovanni Pertosa, Licia Peruzzi, Dimitris Petras, Phuong-Chi Pham, Phuong-Thu Pham, Richard K.S. Phoon, Stefano Picca, Pasquale Piccinni, Maury N. Pinsk, Michael R. Pinsky, Marta Piroddi, Isabelle Plamondon, Lindsay D. Plank, Frans B. Plötz, Lusine Poghosyan, Natalia Polanco, Patricio M. Polanco, Hans Dietrich Polaschegg, Rafael Ponikvar, Silvia Porecca, Didier Portilla, T. Brian Powell, Raymond Quigley, Hamid Rabb, Maximilian Ragaller, Teresa Rampino, Reena Ranpuria, Anjay Rastogi, Ranistha Ratanarat, Naem Raza, Michael C. Reade, John H. Reeves, Karl Reiter, Giuseppe Remuzzi, Zaccaria Ricci, Sven-Erik Ricksten, Christophe Ridel, Kinan Rifai, Troels Ring, Julie Riopel, Eduardo Rocha, Eric Roessler, Roberto Rona, Claudio Ronco, Eric Rondeau, Seymour Rosen, Christian Rosenberger, Shane Rowan, Thomas Roy, Georges Saab, Tomohito Sadahiro, Carla Sala, Chiara Sala, Alan D. Salama, Adrian Salmon, Gabriela Salvatori, Ramin Sam, Ruben M. Sandoval, Antonio Santoro, Takao Saotome, Penny L. Sappington, J. Vidya Sarma, Judy Savige, Francesco Paolo Schena, Eva Schepers, Miet Schetz, Gregory A. Schmidt, Nestor Schor, Nicola Schusterschitz, Giuseppe Segoloni, Nirva Shah, Shamik H. Shah, Sudhir V. Shah, Asif A. Sharfuddin, Andrew Shaw, Hidetoshi Shiga, Hisataka Shoji, Ashutosh Shukla, Fiona Simpson, Kai Singbartl, Mervyn Singer, Kim Solez, Kevin M. Sowinski, Mark Stafford-Smith, Jan Stange, Luca Stefanelli, Deborah M. Stein, Maurizio Stella, Giovanni Stellin, David A. Story, Sanjay Subramanian, Kristina Swärd, Jordan M. Symons, Kian Bun Tai, James Tattersall, Luisa Tedeschi, Isaac Teitelbaum, Vicente P. Castro Teixeira, Ciro Tetta, Charuhas V. Thakar, Hermann Theilen, Karl W. Thomas, Ashita Tolwani, Francesco Trepiccione, Giorgio Triolo, Jennifer L.Y. Tsang, Emre Tutal, Shigehiko Uchino, Mark Unruh, G. Matthew Vail, Massimo Valentino, Volker Vallon, Wim Van Biesen, Frank M. van der Sande, Dominique M. Vandijck, Raymond Vanholder, Sanju A. Varghese, Ramesh Venkataraman, Bala Venkatesh, Anton Verbine, Jean-Louis Vincent, Christophe Vinsonneau, Ravindran Visvanathan, Alexandra Voinescu, Scott Walters, Li Wan, Peter A. Ward, Richard A. Ward, Stephen Warrillow, Steve Webb, Kenneth Scott Whitlow, Anders Wieslander, Alan H. Wilkinson, Keith Wille, James Frank Winchester, Christine Wu, James Yassin, Jane Y. Yeun, Terence Pok-Siu Yip, Alex W. Yu, Miriam Zacchia, Najam Zaida, Nereo Zamperetti, Michael Zappitelli, Alexander Zarbock

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc75bb6caeabde833b6e808fd4a1de14
https://doi.org/10.1016/b978-1-4160-4252-5.50001-0