Results 51 to 60 of about 10,555 (279)

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart, Kimberly M. Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan, Rizwan Hamid, Lynette Rives, John A. Phillips III, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A. Ladha, Claudia Soler‐Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B. Sheedy, Undiagnosed Diseases Network, Aaron Quinlan, Abdul Elkadri, Adeline Vanderver, Adriana Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, Ali Al‐Beshri, Alistair Ward, Allen Bale, Allyn McConkie‐Rosell, Alyssa A. Tran, Andrea Gropman, Andres Vargas, Andrew B. Crouse, Andrew Stergachis, Anna Hurst, Anna Raper, Arjun Tarakad, Ashley Andrews, Ashley McMinn, Ashok Balasubramanyam, Barbara N. Pusey Swerdzewski, Beatriz Anguiano, Ben Solomon, Beth A. Martin, Bianca E. Russell, Brandon M Wilk, Breanna Mitchell, Brendan C. Lanpher, Brendan H. Lee, Brent L. Fogel, Brett Bordini, Brett H. Graham, Brian Corner, Brianna Tucker, Bruce Korf, Calum A. MacRae, Camilo Toro, Cara Skraban, Carlos A. Bacino, Carol Oladele, Caroline Hendry, Carson A. Smith, Cecilia Esteves, Changrui Xiao, Chloe M. Reuter, Christine M. Eng, Chun‐Hung Chan, Colleen E. Wahl, Corrine K. Welt, Cynthia J. Tifft, Dana Kiley, Daniel J. Rader, Daniel Wegner, Danny Miller, Daryl A. Scott, Dave Viskochil, David A. Sweetser, David R. Adams, Deborah Barbouth, Deepak A. Rao, Devin Oglesbee, Devon Bonner, Donald Basel, Donna Novacic, Dustin Baldridge, Edward Behrens, Edwin K. Silverman, Elaine Seto, Elijah Kravets, Elisabeth Rosenthal, Elizabeth A Worthey, Elizabeth A. Burke, Elizabeth Blue, Elizabeth C. Chao, Elizabeth L. Fieg, Ellen F. Macnamara, Elsa Balton, Emily Glanton, Emily Shelkowitz, Emily Wang, Eric Allenspach, Eric Klee, Eric Vilain, Erin Conboy, Erin E. Baldwin, Erin McRoy, Esteban C. Dell’Angelica, Euan A. Ashley, F. Sessions Cole, Filippo Pinto, Frances High, Francesco Vetrini, Francis Rossignol, Francisco Bustos, Fuki M. Hisama, Gabor Marth, Gail P. Jarvik, Gary D. Clark, George Carvalho, Gerard T. Berry, Ghayda Mirzaa, Giorgio Sirugo, Gonench Kilich, Guney Bademci, Hector Rodrigo Mendez, Heidi Wood, Herman Taylor, Holly K. Tabor, Hongzheng Dai, Hsiao‐Tuan Chao, Hua Xu, Hugo J. Bellen, Hui Zhang, Ian Glass, Ian R. Lanza, Ingrid A. Holm, Isaac S. Kohane, Isum Ward, Ivan Chinn, J. Carl Pallais, Jacinda B. Sampson, James P. Orengo, James Verbsky, Jared Sninsky, Jason Hom, Jason Schend, Jennefer N. Kohler, Jennifer E. Posey, Jennifer Morgan, Jennifer Schymick, Jennifer Wambach, Jessica Douglas, Jiayu Fu, Jill A. Rosenfeld, Jimann Shin, Joan M. Stoler, Joanna M. Gonzalez, John A. Phillips, John Carey, John E. Gorzynski, John J. Mulvihill, Joie Davis, Jonathan A. Bernstein, Jordan Whitlock, Jose Abdenur, Joseph Loscalzo, Joy D. Cogan, Julian A. Martínez‐Agosto, Julie McCarrier, Justin Alvey, Kahlen Darr, Kaitlin Callaway, Kathleen A. Leppig, Kathleen Sullivan, Kathy Sisco, Kathyrn Singh, Katrina Dipple, Kayla M. Treat, Kelly Hassey, Kelly Schoch, Kevin S. Smith, Khurram Liaqat, Kim Worley, Kimberly Ezell, Kimberly LeBlanc, Kumarie Latchman, Lance H. Rodan, Laura Keehan, Laura Pace, Laurel A. Cobban, Lauren Blieden, Lauren C. Briere, Lauren Jeffries, Laurens Wiel, Layal F. Abi Farraj, Leoyklang Petcharet, LéShon Peart, Lili Mantcheva, Lilianna Solnica‐Krezel, Lindsay C. Burrage, Lindsay Mulvihill, Lisa Schimmenti, Lisa T. Emrick, Lorenzo Botto, Lorraine Potocki, Lynette Rives, Lynne A. Wolfe, Maija‐Rikka Steenari, Manish J. Butte, Margaret Delgado, María José Ortuño Romero, Maria T. Acosta, Marie Morimoto, Mariko Nakano‐Okuno, Mark Gerstein, Mark Wener, Marla Sabaii, Martha Horike‐Pyne, Martin G. Martin, Martin Rodriguez, Matt Velinder, Matthew Coggins, Matthew Might, Matthew T. Wheeler, MayChristine V. Malicdan, Megan Bell, Meghan C. Halley, Melissa Walker, Mia Levanto, Michael Bamshad, Michael F. Wangler, Michael Muriello, Michael Zimmermann, Michele Spencer‐Manzon, Miranda Leitheiser, Mohamad Mikati, Mohamad Saifeddine, Monika Weisz Hubshman, Monkol Lek, Monte Westerfield, Mustafa Tekin, Nada Derar, Naghmeh Dorrani, Neil H. Parker, Neil Hanchard, Nicholas Borja, Nicola Longo, Nicole M. Walley, Nitsuh K. Dargie, Odelya Kaufman, Oguz Kanca, Orpa Jean‐Marie, Page C. Goddard, Paolo Moretti, Patricia A. Ward, Patricia Dickson, Paul Berger, Paul G. Fisher, Pengfei Liu, Peter Byers, Pinar Bayrak‐Toydemir, Precilla D’Souza, Queenie Tan, Rachel A. Ungar, Rachel Li, Rachel Mahoney, Ramakrishnan Rajagopalan, Raquel L. Alvarez, Rebecca C. Spillmann, Rebecca Ganetzky, Rebecca Overbury, Rebekah Barrick, Richard A. Lewis, Richard L. Maas, Rizwan Hamid, Rong Mao, Ronit Marom, Rosario I. Corona, Runjun Kumar, Russell Butterfield, Sanaz Attaripour, Sandesh Nagamani, Sara Emami, Seema R. Lalani, Serena Neumann, Seth Perlman, Shamika Ketkar, Shamil R. Sunyaev, Shilpa N. Kobren, Shinya Yamamoto, Shrikant Mane, Shruti Marwaha, Sirisak Chanprasert, Stanley F. Nelson, Stephan Zuchner, Stephanie Bivona, Stephanie M. Ware, Stephen B Montgomery, Stephen Pak, Steven Boyden, Suha Bachir, Surendra Dasari, Susan Korrick, Suzanne Sandmeyer, Tahseen Mozaffar, Tammi Skelton, Tanner D Jensen, Tarun KK Mamidi, Taylor Beagle, Taylor Maurer, Teodoro Jerves Serrano, Terra R. Coakley, Thomas Cassini, Thomas J. Nicholas, Timothy Schedl, Tiphanie P. Vogel, Vaidehi Jobanputra, Valerie V. Maduro, Vandana Shashi, Vasilis Vasiliou, Virginia Sybert, Vishnu Cuddapah, Wendy Introne, Wendy Raskind, Willa Thorson, William A. Gahl, William E. Byrd, William J. Craigen, Winston Halstead, Yan Huang, Yigit Karasozen, Yong‐Hui Jiang, Thomas Cassini   +336 more
wiley   +1 more source

Ploidy and the Causes of Genomic Evolution [PDF]

Journal of Heredity, 2009
Genomes vary dramatically in size and in content. This variation is driven in part by numerous polyploidization events that have happened over the course of eukaryotic evolution. Experimental evolution studies, primarily using the yeast Saccharomyces cerevisiae, provide insights into the immediate fitness effects of ploidy mutations, the ability of ...
Aleeza C. Gerstein, Sarah P. Otto
openaire   +3 more sources

Topological and variational modularity: A case study using the pectoral girdle across the Chrosomus eos‐neogaeus hybridization complex

The Anatomical Record, EarlyView.
Abstract Modularity and integration are key developmental properties and have remained central in evo‐devo research because of how they relate to evolvability. While modularity and integration have commonly been assessed with landmark‐based geometric morphometrics (GMM), other methods such as anatomical network analysis (AnNA) are increasingly being ...
Kevin K. Duclos, Thomas Grünbaum, Bernard Angers, Richard Cloutier, Heather A. Jamniczky   +4 more
wiley   +1 more source

Effect of farming practices on growth and mortality rates in triploid and diploid eastern oysters Crassostrea virginica

Aquaculture Environment Interactions, 2021
Commercial off-bottom aquaculture of the eastern oyster Crassostrea virginica is challenged by repeated summer mortality events that appear to affect triploid oysters disproportionally.
S Bodenstein, WC Walton, TD Steury
doaj   +1 more source

A Role for Ploidy in Heart Regeneration [PDF]

Developmental Cell, 2018
There is mounting circumstantial evidence that ploidy, a cell's relative DNA content, is in part responsible for the differential cardiac regenerative capacity observed between regenerative and non-regenerative organisms. In this issue of Developmental Cell, González-Rosa et al.
James F. Martin, Zachary A. Kadow
openaire   +3 more sources

Revisiting Clonal Evolution Through the Light of Retrotransposons

BioEssays, EarlyView.
We propose integrating retrotransposons into the clonal evolution model of cancer. Retrotransposons can modulate cancer cell fitness, potentially influencing clonal dynamics. They might also induce lineage violations via cell fusion or horizontal transfer.
Anaïs Lamoureux, Emilie Elvira‐Matelot, Françoise Porteu, Lucie Laplane   +3 more
wiley   +1 more source

Common but Least Noticed: Diversity of the Mangrove Fern Acrostichum aureum in Hainan Island, China

Biological Diversity, EarlyView.
Acrostichum aureum across nine coastal sites in Hainan Island was examined using morphological, cytometric, and genomic approaches. Three priority conservation areas are proposed to preserve extant genetic diversity and maintain habitat connectivity. ABSTRACT Acrostichum aureum across nine coastal sites in Hainan Island was examined using morphological,
Bingyan Guo, Rui Guo, Hongjuan Zhu, Changwang Ma, Dan He, Xialan Cheng, Yougen Wu, Ya Liu, Jing Yu, Dongmei Yang   +9 more
wiley   +1 more source

Ploidy influences on metabolic substrate deposition of rainbow trout

Acta Scientiarum: Animal Sciences, 2019
Triploid fish are usually sterile. Thus, the energy and nutrients intended for sexual maturation may be available to enhance flesh quality and physical growth.
Aline Dal`Olio Gomes, Vanessa Aparecida Rocha Oliveira Vieira, Yara Aiko Tabata, Neuza Sumico Takahashi, Renata Guimarães Moreira, Cristiele Silva Ribeiro   +5 more
doaj   +1 more source

Effect of Ploidy in Photoreactivation.

Experimental Biology and Medicine, 1952
SummaryThe survival fractions of diploid and haploid strains of S. cerevisiae after ultraviolet irradiation (2537 A.U.) have been obtained, compared, and modified by photoreactivation following the initial irradiation. The haploid survival follows a sigmoid curve and is smaller than the diploid at the same dose.
openaire   +3 more sources

CATECHOLAMINE SECRETION AND PLOIDY IN PHAEOCHROMOCYTOMA

International Journal of Clinical Practice, 2000
SUMMARYThe aim was to evaluate 24 hr urine catecholamine, HMMA and HVA excretion in relation to ploidy in phaeochromocytoma. Data from five diploid and nine tetraploid tumours showed a significant reduction in urine noradrenaline (p=0.02) and HMMA (p=0.03) in diploid tumours but no difference in adrenaline, dopamine and HVA excretion using the Mann ...
W P, Tormey, R J, Fitzgerald, G, Thomas, E W, Kay, M B, Leader   +4 more
openaire   +2 more sources