Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Autor: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

Publikováno v: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Autor: Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, Ehl, Stephan

Publikováno v: In The Journal of Allergy and Clinical Immunology November 2021 148(5):1332-1341

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Autor: del Rocío Pérez Baca, María, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, Maria, Carels, Marieke, Demaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

Publikováno v: medRxiv

Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in ZFHX3 as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::8bb61b29310c290fafc27c52161a7c8c
https://europepmc.org/articles/PMC10246128/

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