Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Autor: Thomas Besnard, Kristian Tveten, Hilary F Kitson, Jennifer A. Lee, Brieana Fregeau, Rachel Schot, Khadija Wilson, Katrin Õunap, Juliane Winkelmann, Anna Lehman, Nicola Longo, Servi J. C. Stevens, Megan T. Cho, Christina G.S. Palmer, Causes Study, Giovanni Battista Ferrero, Joy Dean, Lone W. Laulund, Grazia M.S. Mancini, Matias Wagner, Martin G. Martin, Sabine Lüttgen, Elizabeth J. Bhoj, Amanda J. Yoon, Thomas Klopstock, Janet S. Sinsheimer, Eric Vilain, Sébastien Küry, Francesca Clementina Radio, Jiddeke M. van de Kamp, Cameron Mrokse, Hakon Hakonarson, Samuel G. Cox, Jeanette C. Papp, Margot I. Van Allen, Raymond J. Louie, Constance T. R. M. Stumpel, Evan F. Joiner, Juanita Neira, Arve Vøllo, Amy Pizzino, Kelly Radtke, Celeste Simon, Michelle L. Thompson, Allison Zheng, Omar Sherbini, Marcia C. Willing, Tim M. Strom, Benjamin Garcia, Sara S. Cathey, Theresa A. Grebe, Dong Li, Marjan M. Weiss, Marco Tartaglia, Laura M Bryant, Sandra Mercier, Katherine L. Helbig, Martin Jakob Larsen, Ddd Study, Alexandrea Wadley, Alexander P.A. Stegmann, Sabina Barresi, A. Micheil Innes, Elaine H. Zackai, Gregory Costain, Davor Lessel, Molly Snyder, Heather P. Crawford, Richard Redon, Pearl Lee, Melissa Byler, Holly Dubbs, J. Gage Crump, K. E. Stuurman, Boris Keren, Stéphane Bézieau, Stan F. Nelson, Kristin G. Monaghan, Michael J. Lyons, Jeffrey W. Innis, Anna C.E. Hurst, Elizabeth A. Sellars, Samantha A. Schrier Vergano, Saadet Mercimek-Andrews, Monica H. Wojcik, Alison Ross, Heiko Reutter, Zuo-Fei Yuan, Dylan M. Marchione, Renee Bend, Diana Carli, Zöe Powis, Neil H. Parker, Jennifer Muncy Thomas, Luis A. Umaña, Adeline Vanderver, Julia Hoefele, Linda Manwaring, Christina Fagerberg, Elly Brokamp, M. Stephen Meyn, Pilvi Ilves, Xavier de la Cruz, Nina Powell-Hamilton, Caroline Nava, Garrett Gotway, Karit Reinson, Kristin D. Kernohan, Jennifer Norman, Alexandra Afenjar, Benjamin Cogné, Delphine Héron, Roman Günthner, Alfredo Brusco, John Dean, Kevin A. Janssen, Robert Roger Lebel, Divya Nair, Jijun Wan, Julian A. Martinez-Agosto, Elliott H. Sherr, Kyle Retterer, Claudia B. Catarino, Michael E. March, Natalia Padilla, Elise Brimble, Sylvie Odent, Jane L. Schuette, David Chitayat, Klaas J. Wierenga, Kirsty McWalter, Trine Prescott, Jonas Denecke, Wendy K. Chung

Publikováno v: Science Advances, 6(49):eabc9207. American Association for the Advancement of Science
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DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, ' Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, 6(49):9207. American Association for the Advancement of Science
Science advances, 6(49):eabc9207. American Association for the Advancement of Science
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Sci. Adv. 6:106267 (2020)

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2c29be398973d47026c90ba29e60cd
https://doi.org/10.1126/sciadv.abc9207

THE RELATIONSHIP BETWEEN GESTATIONAL AGE, SIZE AND NUTRITIONAL INTAKE AND GROWTH FACTORS IN PREMATURE INFANTS. † 1457

Autor: Alfonso Solimano, Zenon Cieslak, Hilary F Kitson, Alyson M Skinner

Publikováno v: Pediatric Research. 39:245-245

The role of growth factors in early postnatal growth is poorly understood. The purpose of this study was (i) to examine the change in serum levels of IGF1, IGF2 and IGFBP3 with increasing gestational age (GA) and (ii) to explore the relationship betw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::876b3e4637556e6ce23204fcb87dcb50
https://doi.org/10.1203/00006450-199604001-01480