De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Autor: Colleen E. Wahl, Ingrid A. Holm, Jonathan A. Bernstein, Mitja I. Kurki, Annika M. Dries, Alexander Hoischen, Patrick Allard, Janet S. Sinsheimer, J. Scott Newberry, Maysantoine A. El-Dairi, David R. Adams, Anna C. Need, Mitchell Goheen, Camilo Toro, Outi Kuismin, Andrea L. Gropman, Fanny Kortüm, Lindsay C. Burrage, Braden E. Boone, Nicole M. Walley, Lori H. Handley, Daryl A. Scott, Donna Muzny, Jane S. Bellet, Lance H. Rodan, Catherine Groden, Paul Mazur, Christina G.S. Palmer, Megan W. Butler, Azamian S. Mashid, Brendan Lee, Peter G. Kranz, Alexa T. McCray, Yaping Yang, Hane Lee, David A. Sweetser, Lynne A. Wolfe, Richard Alan Lewis, Sylvia Klinkenberg, Trevor S. Frisby, Lea Latham, Elizabeth A. Worthey, Michele Nehrebecky, William J. Craigen, Donna M. Brown, Constance T. R. M. Stumpel, Laura A. Mamounas, Michael F. Wangler, Lauren C. Briere, Alanna E. Koehler, Sarah Sadozai, Shinya Yamamoto, Kate Frost, Michael Freemark, Carson R. Loomis, Slavé Petrovski, Christine M. Eng, Barbara K. Burton, Hugo J. Bellen, Angela L. Jones, Esteban C. Dell Angelica, A. Bacino, Camille L. Birch, David Goldstein, Tran A. Alyssa, Joan M. Stoler, Yong-hui Jiang, Scott E. Hickey, Paul R. Lee, Jennifer A. Sullivan, William A. Gahl, Christopher J. Adams, Rebecca C. Spillmann, Katherine H. Kim, Daryl Waggott, Seema R. Lalani, Denise J. Levy, René Santer, May V. Malicdan, Donna Novacic, John H. Postlethwait, Kimberly Splinter, Laurel A. Donnell-Fink, Jean M. Johnston, Richard L. Maas, Alexandra J. McCarty, Gretchen Golas, Sarah K. Nicholas, Donna M. Krasnewich, David D. Draper, Cynthia J. Tifft, Cecilia Esteves, David M. Koeller, John A. Phillips, Chris A. Walsh, Palotie Aarno, Gary D. Clark, Howard J. Jacob, Katherine E. Schaffer, Magdalena Walkiewicz, Satu Korpi-Heikkila, Karin Oberndorff, David P. Bick, Isabel Hardee, Valerie Maduro, John J. Mulvihill, Elizabeth A. Burke, Thomas C. Markello, Yvonne L. Latour, Adam P. Liebendorder, Ashok Balasubramanyam, David J. Eckstein, Elizabeth L. Krieg, M. T. Cho, Teri A. Manolio, Katherine R. Chao, Alan H. Beggs, Patricia A. Zornio, Valerie Gartner, Chyau Yueh C Lau, Monte Westerfield, Issac S. Kohane, Jyoti G. Dayal, Rena A. Godfrey, Thomas O. Metz, John H. Newman, Brett H. Graham, Alec A. Weech, Joe Lazar, Mike Warburton, Anastasia L. Wise, Nicholas Stong, Shweta U. Dhar, Matthew R. Herzog, Joel B. Krier, Jennefer N. Kohler, Guoyun Yu, Neil A. Hanchard, Edwin K. Silverman, Christine M. Shuss, Kim A. Strong, Olli Pietilainen, Casey Martin, Mariska Davids, Prashant Sharma, Joseph Loscalzo, Lorraine Potocki, Nathanial J. Tolman, Joy D. Cogan, Matthew Might, Barbara N. Pusey, Naghmeh Dorrani, Sharyn A. Lincoln, Euan A. Ashley, Mahim Jain, Jennifer L. Murphy, Stan F. Nelson, Patricia A. Ward, Shawn Levy, Kelly Schoch, Katrina M. Dipple, Paul G. Fisher, Cynthia M. Cooper, Vandana Shashi, Juan C. Pallais, Martha Ann Keels, Jennifer E. Posey, Heather M. McLaughlin, Calum A. MacRae, Eric Vilain, Molly C. Schroeder, Mary E. Hackbarth, Sara P. Thomas, Lisa Emrick, Ariane Soldatos, Allyn McConkie-Rosell, Ellen Macnamara, Melanie J. Bonner, Hayk Barseghyan, Tyra Estwick, Alejandro E. Mercedes, Malik Alawi, Maja Hempel, Matthew T. Wheeler, Jordan S. Orange, Paolo M. Moretti, Brenda Iglesias, Rachel Ramoni, Loren D M Pena, Zaheer M. Valivullah, Mary 'Gracie' G. Gordon, Rizwan Hamid, Jeanette C. Papp, Dan C. Dorset, Jill A. Rosenfeld

Publikováno v: American Journal of Human Genetics, 99, 991-999
American Journal of Human Genetics, 99, 4, pp. 991-999
American Journal of Human Genetics, 100, 1, pp. 179
American Journal of Human Genetics, 100, 179
American Journal of Human Genetics, 99(4), 991-999. Cell Press

Item does not contain fulltext The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44e4831dd3e02760631dd22e1bbb1d6
http://hdl.handle.net/2066/167201

The influence of temperature on energy budget variables, body size, and seasonal occurrence of the isopod Idotea baltica (Pallas)

Autor: Graham R. Daborn, Kim W. Strong

Publikováno v: Canadian Journal of Zoology. 58:1992-1996

Effects of temperature on ingestion (C) and metabolic (R) rates in Idotea baltica are examined to explain differences in maximum body size, longevity, and seasonal occurrence in two populations occupying habitats differing by 2–4 °C in average max

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7167e7a1d66dac5aef6194f3b9cb3d94
https://doi.org/10.1139/z80-274

The Influence of Moulting on the Ingestion Rate of an Isopod Crustacean

Autor: Graham R. Daborn, Kim W. Strong

Publikováno v: Oikos. 34:159

The variation in ingestion rate throughout one entire instar of the isopod Idotea baltica (Pallas) is described and compared with that suggested by Duncan and Klekowski for a generalized continuous feeder. Feeding is greatly inhibited during ecdysis,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d39a7596080273af06b237848c2b70c6
https://doi.org/10.2307/3544176