Results 61 to 70 of about 15,747 (332)
Marker Metabolite‐Based Multi‐Omics Analysis Identifies New Loci Controlling Thousand Seed Weight in Brassica Napus
Advanced Science, EarlyView.Marker metabolite‐based multi‐omics (genome, transcriptome, and metabolome) analysis is conducted firstly to unravel the genetic basis of thousand seed weight (TSW) in Brassica napus. The released metabolite‐QTL‐gene network represents a valuable genetic resource, and the newly validated BnaTGA6 is a promising target for the improvement of TSW in ...Long Li, Zhitao Tian, Xiaowei Wu, Zengdong Tan, Xu Han, Yuyan Xiang, Jie Chen, Hu Zhao, Wei Chen, Liang Guo, Xuan Yao +10 morewiley +1 more sourceMicrobiome and Its Dysbiosis in Inborn Errors of Immunity
Pathogens, 2023 Inborn errors of immunity (IEI) can present with infections, autoimmunity, lymphoproliferation, granulomas, and malignancy. IEIs are due to genetic abnormalities that disrupt normal host-immune response or immune regulation.Madhubala Sharma, Manpreet Dhaliwal, Rahul Tyagi, Taru Goyal, Saniya Sharma, Amit Rawat +5 moredoaj +1 more sourceCase 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 morewiley +1 more sourceTreg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao +9 morewiley +1 more sourceUpdate on inborn errors of immunity
Journal of Allergy and Clinical ImmunologyEver since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 saw a ...Hanna IJspeert, Emily S.J. Edwards, Robyn E. O’Hehir, Virgil A.S.H. Dalm, Menno C. van Zelm +4 moreopenaire +2 more sourcesAdvances in gene therapy for inborn errors of immunity
Current Opinion in Allergy & Clinical Immunology, 2023 Purpose of review Provide an overview of the landmark accomplishments and state of the art of gene therapy for inborn errors of immunity (IEI). Recent findings Three decades after the first clinical application of gene therapy for IEI, there is one market authorized product ...Ott de Bruin, Lisa M., Lankester, Arjan C., Staal, Frank J.T. +2 moreopenaire +2 more sourcesEfficacy and Safety of ABBV‐154 for the Treatment of Active Rheumatoid Arthritis: A Phase 2b, Randomized, Placebo‐Controlled Trial
Arthritis &Rheumatology, EarlyView.Objective
Despite the availability of biologic and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.Frank Buttgereit, Atul Singhal, Alan Kivitz, Edit Drescher, Yoshinori Taniguchi, Rosalía Martínez Pérez, Jaclyn Anderson, Ronilda D'Cunha, Weihan Zhao, Nicholas DeVogel, Julie Parmentier, Romy Christmann, Dilek Arikan, Howard Amital +13 morewiley +1 more source
