Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomersJCI insight - Tập 3 Số 9 - 2018
Eugene Wyatt, Alexis R. Demonbreun, Ellis Y. Kim, Megan J. Puckelwartz, Andy H. Vo, Shoa L. Clarke, Quan Q. Gao, Mariz Vainzof, R C M Pavanello, Mayana Zatz, Elizabeth M. McNally
Heterogeneous fibroblasts underlie age-dependent tertiary lymphoid tissues in the kidneyJCI insight - Tập 1 Số 11 - 2016
Yuki Sato, Akiko Mii, Yuji Hamazaki, Harumi Fujita, Hirosuke Nakata, Kyoko Masuda, Shingo Nishiyama, Shinsuke Shibuya, Hironori Haga, Osamu Ogawa, Akira Shimizu, Shuh Narumiya, Tsuneyasu Kaisho, Makoto Arita, Masashi Yanagisawa, Masayuki Miyasaka, Kumar Sharma, Nagahiro Minato, Hiroshi Kawamoto, Motoko Yanagita
Leukocytes mediate disease pathogenesis in the Ndufs4(KO) mouse model of Leigh syndromeJCI insight - Tập 7 Số 5 - 2022
Julia Stokes, Rebecca Bornstein, Katerina James, Kyung Yeon Park, Kira A. Spencer, Katie Vo, John Snell, Brittany Johnson, Philip G. Morgan, Margaret M. Sedensky, Nathan A. Baertsch, Simon C. Johnson
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionJCI insight - Tập 1 Số 9 - 2016
Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jan M. Friedman, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, I Krägeloh-Mann, David Chitayat, Aditi Parikh, Rachael Bradshaw, Erin Torti, Stephen R. Braddock, Leah W. Burke, Sondhya Ghedia, Mark J. Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget C. O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanoël, Robert L. Conway, Koenraad Devriendt, Katrina Tatton–Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserili, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns
Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing’s syndromeJCI insight - Tập 2 Số 18 - 2017
Anne‐Lise Lecoq, Constantine A. Stratakis, Say Viengchareun, Ronan Chaligné, Lucie Tosca, Vianney Deméocq, Mirella Hage, Annabel Berthon, Fábio R. Faucz, Patrick Hanna, Nicolas Servant, Sylvie Salenave, Gérard Tachdjian, Clovis Adam, Vanessa Benhamo, Éric Clauser, Jérôme Bertherat, Jacques Young, Marc Lombès, Isabelle Bourdeau, Dominique Maiter, Antoine Tabarin, Hervé Lefèbvre, Wouter W. de Herder, Estelle Louiset, André Lacroix, Philippe Chanson, Jérôme Bouligand, Peter Kamenický
