PMC Links for OMIM (Select 613437) - PMC

Select item 70423711.

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Marcin Łyszkiewicz, Natalia Ziętara, Laura Frey, Ulrich Pannicke, Marcel Stern, Yanshan Liu, Yanxin Fan, Jacek Puchałka, Sebastian Hollizeck, Ido Somekh, Meino Rohlfs, Tuğba Yilmaz, Ekrem Ünal, Musa Karakukcu, Türkan Patiroğlu, Christina Kellerer, Ebru Karasu, Karl-Walter Sykora, Atar Lev, Amos Simon, Raz Somech, Joachim Roesler, Manfred Hoenig, Oliver T. Keppler, Klaus Schwarz, Christoph Klein

Nat Commun. 2020; 11: 1031. Published online 2020 Feb 25. doi: 10.1038/s41467-020-14809-9

Correction in:: Nat Commun. 2020; 11: 1963.

PMCID:: PMC7042371

Abstract Article PDF–3.8M

Select item 67018382.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in humans

Enrica Calzoni, Craig D. Platt, Sevgi Keles, Hye Sun Kuehn, Sarah Beaussant-Cohen, Yu Zhang, Julia Pazmandi, Gaetana Lanzi, Francesca Pala, Azzeddine Tahiat, Hasibe Artac, Raul Jimenez Heredia, Jasmin Dmytrus, Ismail Reisli, Vedat Uygun, Dilara Uygun, Aysen Bingol, Erdem Basaran, Kamel Djenouhat, Nafissa Benhalla, Chafa Bendahmane, Melike Emiroglu, Tom Kirchhausen, Mithun Pasham, Jennifer Jones, Jacqueline G. Wallace, Lixin Zheng, Bertrand Boisson, Fulvio Porta, Sergio D. Rosenzweig, Helen Su, Silvia Giliani, Michael Lenardo, Raif S. Geha, Kaan Boztug, Janet Chou, Luigi D. Notarangelo

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: J Allergy Clin Immunol. 2019 Jun; 143(6): 2317–2321.e12. Published online 2019 Feb 26. doi: 10.1016/j.jaci.2019.02.014

PMCID:: PMC6701838

Abstract Article PDF–294K

Select item 28834403.

FCHo Proteins are Nucleators of Clathrin-Mediated Endocytosis

William Mike Henne, Emmanuel Boucrot, Michael Meinecke, Emma Evergren, Yvonne Vallis, Rohit Mittal, Harvey T. McMahon

Science. Author manuscript; available in PMC 2010 Dec 7.

Published in final edited form as: Science. 2010 Jun 4; 328(5983): 1281–1284. Published online 2010 May 6. doi: 10.1126/science.1188462

PMCID:: PMC2883440

Abstract Article PDF–1.7M

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