Search results

Publication date Communities Collections Article title Author(s) Journal/Conference
11 Mar 2020 BMRC Institute of Molecular and Cell Biology Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly Shan Zhang, Boris Reljić, Chao Liang, Baptiste Kerouanton, Joel Celio Francisco, Jih Hou Peh, Camille Mary, Narendra Suhas Jagannathan, Volodimir Olexiouk, Claire Tang, Gio Fidelito, Srikanth Nama, Ruey-Kuang Cheng, Caroline Lei Wee, Loo Chien Wang, Paula Duek Roggli, Prabha Sampath, Lydie Lane, Enrico Petretto, Radoslaw M. Sobota, Suresh Jesuthasan, Lisa Tucker-Kellogg, Bruno Reversade, Gerben Menschaert, Lei Sun, David A. Stroud, Lena Ho Nature Communications
30 Jan 2020 BMRC Institute of Molecular and Cell Biology Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Bruno Reversade, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls Nature Communications
4 Sep 2019 BMRC Institute of Molecular and Cell Biology Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis Scott B. Drutman, Filomeen Haerynck, Franklin L. Zhong, David Hum, Nicholas J. Hernandez, Serkan Belkaya, Franck Rapaport, Sarah Jill de Jong, David Creytens, Simon J. Tavernier, Katrien Bonte, Sofie De Schepper, Jutte van der Werff ten Bosch, Lazaro Lorenzo-Diaz, Andy Wullaert, Xavier Bossuyt, Gérard Orth, Vincent R. Bonagura, Vivien Béziat, Laurent Abel, Emmanuelle Jouanguy, Bruno Reversade, Jean-Laurent Casanova Proceedings of the National Academy of Sciences of the United States of America
9 Aug 2019 BMRC Institute of Molecular and Cell Biology Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2 Ruizhu Zenga, Harwin Sidika, Kim S. Robinson, Franklin L. Zhong, Bruno Reversade, Mahmoud A. Pouladi Stem Cell Research
8 Jul 2019 BMRC Institute of Molecular and Cell Biology Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features Amin Ziaei, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Christof Haffner, Bruno Reversade, Vahid Shaygannejad, Mahmoud A. Pouladi Neurology Genetics
30 Jan 2019 BMRC Institute of Molecular and Cell Biology SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D. Gurzau, Agnieszka Nowak, Christopher T. Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binetruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaelle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M. Murphy, Jérôme Déjardin, Marnie E. Blewitt, Bruno Reversade, Jérôme D. Robin, Frédérique Magdinier Nucleic Acids Research
5 Dec 2018 BMRC Institute of Molecular and Cell Biology Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding Franklin L. Zhong, Kim Robinson, Daniel Eng Thiam Teo, Kiat-Yi Tan, Chrissie Lim, Cassandra R. Harapas, Chien-Hsiung Yu, William H. Xie, Radoslaw M. Sobota, Veonice Bijin Au, Richard Hopkins, Andrea D'Osualdo, John C. Reed, John E. Connolly, Seth L. Masters, Bruno Reversade Journal of Biological Chemistry
26 Nov 2018 BMRC Institute of Molecular and Cell Biology Structural basis of RIP2 activation and signaling Qin Gong, Ziqi Long, Franklin L. Zhong, Daniel Eng Thiam Teo, Yibo Jin, Zhan Yin, Zhao Zhi Boo, Yaming Zhang, Jiawen Zhang, Renliang Yang, Shashi Bhushan, Bruno Reversade, Zongli Li, Bin Wu Nature Communications
24 Jul 2018 BMRC Institute of Molecular and Cell Biology Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake BMC Medical Genetics
1 Jun 2018 BMRC Institute of Molecular and Cell Biology FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function Alexandra D. Gurzau, Kelan Chen, Shifeng Xue, Weiwen Dai, Isabelle S. Lucet, Thanh Thao Nguyen Ly, Bruno Reversade, Marnie E. Blewitt, James M. Murphy Journal of Biological Chemistry