Novel CYCLIN‐O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

Authors: Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker‐Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade

Source: Respirology Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)

Subject Terms: bronchiectasis, CCNO, mucociliary disorder, primary ciliary dyskinesia, RGMC, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: https://doaj.org/toc/2051-3380

Access URL: https://doaj.org/article/156c0d8095544474aa09de75d71a11d6

Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus

Authors: Tram Anh Nguyen, Jia Wei Joel Heng, Yan Ting Ng, Rui Sun, Shira Fisher, Gokce Oguz, Pornchai Kaewsapsak, Shifeng Xue, Bruno Reversade, Adaikalavan Ramasamy, Eli Eisenberg, Meng How Tan

Source: BMC Biology, Vol 21, Iss 1, Pp 1-25 (2023)

Subject Terms: RNA editing, ADAR, Xenopus, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/abccd887de8d46a085dc1ca76e7b252c

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease

Authors: Andres Tapia del Fierro, Bianca den Hamer, Natalia Benetti, Natasha Jansz, Kelan Chen, Tamara Beck, Hannah Vanyai, Alexandra D. Gurzau, Lucia Daxinger, Shifeng Xue, Thanh Thao Nguyen Ly, Iromi Wanigasuriya, Megan Iminitoff, Kelsey Breslin, Harald Oey, Yvonne D. Krom, Dinja van der Hoorn, Linde F. Bouwman, Timothy M. Johanson, Matthew E. Ritchie, Quentin A. Gouil, Bruno Reversade, Fabrice Prin, Timothy Mohun, Silvère M. van der Maarel, Edwina McGlinn, James M. Murphy, Andrew Keniry, Jessica C. de Greef, Marnie E. Blewitt

Source: Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4b268abe87144921872eecf80d018c13

P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation

Authors: Youjin Oh, Grace Yoon, Michael Maier, Bruno Reversade, Jessie Cameron, Susan Blaser, Cynthia Hawkins

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101168- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003145; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/0c3457b103b34492827f462dbb0b1338

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis

Authors: Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard, Bruno Reversade

Source: EMBO Molecular Medicine, Vol 15, Iss 5, Pp 1-15 (2023)

Subject Terms: ASK1, ERK, RAF1, RASopathy, Xenopus, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/12fc7fb5e634482b982be6cd3b0c8a2c

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing

Authors: Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade

Source: EMBO Molecular Medicine, Vol 15, Iss 2, Pp 1-19 (2023)

Subject Terms: non‐coding variant, Osteogenesis Imperfecta, RNA‐seq, SI‐NET‐seq, TAPT1, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/921d307af59a483894117f4547a0983f

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Authors: Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

Source: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/35883c108c1d4e72ba468a3fd1444767

The Opto-inflammasome in zebrafish as a tool to study cell and tissue responses to speck formation and cell death

Authors: Eva Hasel de Carvalho, Shivani S Dharmadhikari, Kateryna Shkarina, Jingwei Rachel Xiong, Bruno Reversade, Petr Broz, Maria Leptin

Source: eLife, Vol 12 (2023)

Subject Terms: 0ptogenetics, zebrafish, epithelial cells, inflammasome, cell death, ASC speck, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/86373; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/5a6d7fc847d3413f978e958162dcd43c

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

Authors: Shifeng Xue, Thanh Thao Nguyen Ly, Raunak S. Vijayakar, Jingyi Chen, Joel Ng, Ajay S. Mathuru, Frederique Magdinier, Bruno Reversade

Source: Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4b6dee71e17346d4bd2f45a200af55bd

Identical twins carry a persistent epigenetic signature of early genome programming

Authors: Jenny van Dongen, Scott D. Gordon, Allan F. McRae, Veronika V. Odintsova, Hamdi Mbarek, Charles E. Breeze, Karen Sugden, Sara Lundgren, Juan E. Castillo-Fernandez, Eilis Hannon, Terrie E. Moffitt, Fiona A. Hagenbeek, Catharina E. M. van Beijsterveldt, Jouke Jan Hottenga, Pei-Chien Tsai, BIOS Consortium, Genetics of DNA Methylation Consortium, Josine L. Min, Gibran Hemani, Erik A. Ehli, Franziska Paul, Claudio D. Stern, Bastiaan T. Heijmans, P. Eline Slagboom, Lucia Daxinger, Silvère M. van der Maarel, Eco J. C. de Geus, Gonneke Willemsen, Grant W. Montgomery, Bruno Reversade, Miina Ollikainen, Jaakko Kaprio, Tim D. Spector, Jordana T. Bell, Jonathan Mill, Avshalom Caspi, Nicholas G. Martin, Dorret I. Boomsma

Source: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/4deb6641205f44abb1762c5892e3dccd

Somatic genetic rescue of a germline ribosome assembly defect

Authors: Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

Source: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/a48dd70c00914ebb83beed70d65306d7

Structural basis for distinct inflammasome complex assembly by human NLRP1 and CARD8

Authors: Qin Gong, Kim Robinson, Chenrui Xu, Phuong Thao Huynh, Kelvin Han Chung Chong, Eddie Yong Jun Tan, Jiawen Zhang, Zhao Zhi Boo, Daniel Eng Thiam Teo, Kenneth Lay, Yaming Zhang, John Soon Yew Lim, Wah Ing Goh, Graham Wright, Franklin L. Zhong, Bruno Reversade, Bin Wu

Source: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/fb33e8feb690411b8e3bbd80f9119b57

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Authors: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Source: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d

C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the Skin

Authors: Teruki Dainichi, Yuri Nakano, Hiromi Doi, Satoshi Nakamizo, Saeko Nakajima, Reiko Matsumoto, Thomas Farkas, Pui Mun Wong, Vipin Narang, Ricardo Moreno Traspas, Eiryo Kawakami, Emma Guttman-Yassky, Oliver Dreesen, Thomas Litman, Bruno Reversade, Kenji Kabashima

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: EIME, keratinocyte, GPR15L, C10orf99, 2610528A11Rik, atopic dermatitis, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.825032/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/edd5f834c33541978485b78d10437417

Generation of three human induced pluripotent stem cell lines with IRX5 knockout and knockin genetic editions using CRISPR-Cas9 system

Authors: Robin Canac, Amandine Caillaud, Bastien Cimarosti, Aurore Girardeau, Hanan Hamamy, Bruno Reversade, Carine Bonnard, Zeina R. Al Sayed, Laurent David, Jeremie Poschmann, Patricia Lemarchand, Guillaume Lamirault, Nathalie Gaborit

Source: Stem Cell Research, Vol 58, Iss , Pp 102627- (2022)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506121004748; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/a5200d83fcab486da903e7e399073f5b

Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

Authors: 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

Source: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/0910631e426f49c8a20e80729e44b71d

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Authors: 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, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, 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, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

Source: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/669f0574667343e2aba272d086c020c6

A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

Authors: Geetika Sahni, Shu‐Yung Chang, Jeremy Choon Meng Teo, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh

Source: Advanced Science, Vol 8, Iss 13, Pp n/a-n/a (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/124cb9bd77d24377b9cd9c1a0ea5bb3c

R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors

Authors: Valerie PI Vidal, Fariba Jian-Motamedi, Samah Rekima, Elodie P Gregoire, Emmanuelle Szenker-Ravi, Marc Leushacke, Bruno Reversade, Marie-Christine Chaboissier, Andreas Schedl

Source: eLife, Vol 9 (2020)

Subject Terms: kidney development, wnt signaling, mesenchyme to epithelial transition, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/53895; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/f5c84534512c4f88a3f0580471dfb328

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

Authors: Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

Source: Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/8657ae5e714d4945aeb05193ccfe9904