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Loh, A.Y.T., Ho, C.M., Muthiah, S., Venkatesh, B., Zwolinski, S., Bray, A.P.J.J., Reversade, B., Rajan, N., Carney, T.J.
Published in British journal of dermatology (1951) (01.06.2021)
Published in British journal of dermatology (1951) (01.06.2021)
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Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S
Published in Bone (New York, N.Y.) (01.06.2010)
Published in Bone (New York, N.Y.) (01.06.2010)
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530P Biallelic missense variants in C2orf69 cause mitochondrial dysfunction associated with early-onset neurodegeneration and autoinflammation
Oh, R., Maier, M., Blaser, S., Cameron, J., Lafreniere, A., Hawkins, C., Reversade, B., Yoon, G.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Inhibiting chondroitin sulfate synthase 1 ameliorates hyperplastic arterial remodelling
Liao, D, Mizumoto, S, Chng, W S, Tanudin, I, Motakis, E, Tian, J, Gurung, R, Yamada, S, Ackers-Johnson, M, Richards, A M, Reversade, B, Foo, R S Y, Chan, M Y, Zhao, R R, Koh, C Y
Published in European heart journal (28.10.2024)
Published in European heart journal (28.10.2024)
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176 C10orf99/2610528A11Rik induces keratinocyte proinflammatory response and regulates lipid metabolism and barrier formation of the skin
Dainichi, T., Nakano, Y., Doi, H., Nakamizo, S., Nakajima, S., Farkas, T., Wong, P., Narang, V., Traspas, R. Moreno, Kawakami, E., Guttman-Yassky, E., Dreesen, O., Litman, T., Reversade, B., Kabashima, K.
Published in Journal of investigative dermatology (01.12.2022)
Published in Journal of investigative dermatology (01.12.2022)
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424 C10orf99 governs keratinocyte inflammatory response and barrier formation of the skin
Dainichi, T., Nakano, Y., Doi, H., Nakamizo, S., Nakajima, S., Matsumoto, R., Farkas, T., Wong, P., Narang, V., Kawakami, E., Guttman-Yassky, E., Dreesen, O., Litman, T., Reversade, B., Kabashima, K.
Published in Journal of investigative dermatology (01.08.2022)
Published in Journal of investigative dermatology (01.08.2022)
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901 Inflammasome signaling and translocation of apoptotic speck-like protein containing a caspase activation and recruitment domain (ASC) in psoriatic keratinocytes
Cai, S., Robinson, K.S., Tan, E., Tey, H., Reversade, B., Zhong, F.
Published in Journal of investigative dermatology (01.05.2018)
Published in Journal of investigative dermatology (01.05.2018)
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Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
Szenker-Ravi, Emmanuelle, Ott, Tim, Khatoo, Muznah, Moreau de Bellaing, Anne, Goh, Wei Xuan, Chong, Yan Ling, Beckers, Anja, Kannesan, Darshini, Louvel, Guillaume, Anujan, Priyanka, Ravi, Vydianathan, Bonnard, Carine, Moutton, Sébastien, Schoen, Patric, Fradin, Mélanie, Colin, Estelle, Megarbane, André, Daou, Linda, Chehab, Ghassan, Di Filippo, Sylvie, Rooryck, Caroline, Deleuze, Jean-François, Boland, Anne, Arribard, Nicolas, Eker, Rukiye, Tohari, Sumanty, Ng, Alvin Yu-Jin, Rio, Marlène, Lim, Chun Teck, Eisenhaber, Birgit, Eisenhaber, Frank, Venkatesh, Byrappa, Amiel, Jeanne, Crollius, Hugues Roest, Gordon, Christopher T., Gossler, Achim, Roy, Sudipto, Attie-Bitach, Tania, Blum, Martin, Bouvagnet, Patrice, Reversade, Bruno
Published in Nature genetics (01.01.2022)
Published in Nature genetics (01.01.2022)
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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
Kariminejad, Ariana, Szenker-Ravi, Emmanuelle, Lekszas, Caroline, Tajsharghi, Homa, Moslemi, Ali-Reza, Naert, Thomas, Tran, Hong Thi, Ahangari, Fatemeh, Rajaei, Minoo, Nasseri, Mojila, Haaf, Thomas, Azad, Afrooz, Superti-Furga, Andrea, Maroofian, Reza, Ghaderi-Sohi, Siavash, Najmabadi, Hossein, Abbaszadegan, Mohammad Reza, Vleminckx, Kris, Nikuei, Pooneh, Reversade, Bruno
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
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Connective-tissue growth factor (CTGF) modulates cell signalling by BMP and TGF-β
De Robertis, E. M, Abreu, José G, Ketpura, Nan I, Reversade, Bruno
Published in Nature cell biology (01.08.2002)
Published in Nature cell biology (01.08.2002)
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5922A novel APJ ligand, ELABELA/Apela/Toddler, protects from pressure overload- and Angiotensin II-induced cardiac hypertrophy and fibrosis
Sato, T., Sato, C., Kadowaki, A., Watanabe, H., Ho, L., Ishida, J., Yamaguchi, T., Kimura, A., Fukamizu, A., Penninger, J., Reversade, B., Ito, H., Imai, Y., Kuba, K.
Published in European heart journal (01.08.2017)
Published in European heart journal (01.08.2017)
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Embryonic Dorsal-Ventral Signaling: Secreted Frizzled-Related Proteins as Inhibitors of Tolloid Proteinases
Lee, Hojoon X., Ambrosio, Andrea L., Reversade, Bruno, De Robertis, E.M.
Published in Cell (13.01.2006)
Published in Cell (13.01.2006)
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Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects
Ng, Calista K L, Shboul, Mohammad, Taverniti, Valerio, Bonnard, Carine, Lee, Hane, Eskin, Ascia, Nelson, Stanley F, Al-Raqad, Mohammed, Altawalbeh, Samah, Séraphin, Bertrand, Reversade, Bruno
Published in Human molecular genetics (01.06.2015)
Published in Human molecular genetics (01.06.2015)
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578Hamamy syndrome: Deciphering the role of IRX5 transcription factor in the regulation of human cardiac electrical conduction
Reda Al Sayed, Z., Harkous, ED, Jacob, N., Bonnard, C., Reversade, B., Zibara, K., Lemarchand, P., Gaborit, N.
Published in Europace (London, England) (01.06.2017)
Published in Europace (London, England) (01.06.2017)
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Chordin Is Required for the Spemann Organizer Transplantation Phenomenon in Xenopus Embryos
Oelgeschläger, Michael, Kuroda, Hiroki, Reversade, Bruno, De Robertis, E.M.
Published in Developmental cell (01.02.2003)
Published in Developmental cell (01.02.2003)
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