Results 91 to 100 of about 29,607 (257)
Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics
International Journal of Cancer, EarlyView.Abstract
Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink +11 morewiley +1 more sourceGamma SARS‐CoV‐2 variant of concern infection repercussions on pregnancy outcomes: A translational cohort study
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective
This study conduct viral genome sequencing among severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐infected pregnant and postpartum individuals, and investigates disease severity and maternal and perinatal outcomes considering variant of concern (VOC) and non‐VOC groups.Guilherme M. Nobrega, Fabiana Granja, Mariene R. Amorim, Luciana S. Mofatto, Daniel A. Toledo‐Teixeira, Julia Forato, Priscilla P. Barbosa, Jose Paulo S. Guida, Adriana G. Luz, Giuliane J. Lajos, Carolina C. Ribeiro‐do‐Valle, Gisele A. Pedroso, Kamila C. S. Krywacz, Angelica Z. Schreiber, Giuliana D. Moreno, Rodrigo N. Angerami, Maria Luiza Moretti, Rodolfo C. Pacagnella, Renato T. Souza, Jose Guilherme Cecatti, Rodrigo G. Stabeli, Magnun N. N. Santos, Fernando R. Spilki, Ester C. Sabino, Nuno R. Faria, William M. de Souza, Jose Luiz Proenca‐Modena, Maria Laura Costa +27 morewiley +1 more sourceThe plant microbiome: From ecological foundations to precision microbial engineering for sustainable agriculture
iMeta, EarlyView.From ecological principles to precision engineering of plant microbiomes for sustainable agriculture. The plant holobiont integrates diverse microbial niches (including rhizosphere, endosphere, phyllosphere, seed, and aerial‐root mucilagesphere), host genetics (namely M genes), and host metabolites. Furthermore, molecular dialogues, including rhizobial Mi Wei, Tengxiang Lian, Liying Chen, Lanxiang Wang, Junjie Ye, Xiaofang Yao, Shilong Duan, Ziyu Lu, Jinji Tu, Hongfu Li, Xin‐Yue Xu, Jie Zhou, Junliang He, Feiying Zhu, Paola Bonfante, Lam‐Son Phan Tran, Zhiqiang Pang, Xin Zhou, Zhihui Xu, Lin Zhang, Mengcen Wang, Xiaolin Wang, Chang‐Fu Tian, Yong‐Xin Liu, Kai Sun, Ertao Wang, Xianan Xie +26 morewiley +1 more sourceMicrobial DNA methylation links rumen transcriptional activity to methane emission divergence in dairy cows
iMeta, EarlyView.Genome‐resolved methylomics uncovers the first DNA methylation atlas of the dairy cow rumen microbiome. Microbial DNA methylation profiles diverge between low‐ and high‐ methane‐emitting dairy cows despite limited taxonomic differences. Differential methylation is linked to transcriptional variation in genes involved in carbon metabolism, hydrogen ...Xinyue Zhang, Guirong Xu, Liwei Zhao, Ye Tao, Jiawei Zhang, Cameron E. F. Clark, Yangyi Hao, Zhijun Cao, Shengli Li, Wei Wang +9 morewiley +1 more sourceLaparoscopic Methylene Blue Photodynamic Therapy for Intraabdominal Infection: A Preclinical Feasibility Study in a Rabbit Model of Perforated Appendicitis
Lasers in Surgery and Medicine, EarlyView.ABSTRACT Objectives
Perforated appendicitis commonly results in intra‐abdominal infection requiring prolonged antibiotic therapy. Intraoperative antimicrobial adjuncts are limited, and photodynamic therapy (PDT) may provide a targeted, resistance‐independent approach.Timothy M. Baran, Korry T. Wirth, Matthew M. Byrne, Benjamin Gertsen, Eric Y. Wang, Darrian S. Hawryluk, Martin S. Pavelka, Nicole A. Wilson +7 morewiley +1 more sourceFrom Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics
Movement Disorders, EarlyView.Abstract Background
CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch +8 morewiley +1 more sourceFrequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort
Movement Disorders, EarlyView.Abstract Background
Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.Annie Chen, Udbhav Avadhani, Kathie Ngo, Rosario I. Corona, George de V. Carvalho Neto, Karla P. Figueroa, Undiagnosed Diseases Network, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Alyssa A. Tran, Arjun Tarakad, Brendan H. Lee, Carlos A. Bacino, Christine M. Eng, Daryl A. Scott, Elaine Seto, Hongzheng Dai, Hsiao‐Tuan Chao, Hugo J. Bellen, Ivan Chinn, James P. Orengo, Jared Sninsky, Jill A. Rosenfeld, Kim Worley, Lauren Blieden, Lindsay C. Burrage, Lorraine Potocki, Michael F. Wangler, Monika Weisz Hubshman, Pengfei Liu, Richard A. Lewis, Ronit Marom, Sandesh Nagamani, Seema R. Lalani, Shamika Ketkar, Shinya Yamamoto, Tiphanie P. Vogel, William J. Craigen, Alan H. Beggs, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, Lance H. Rodan, Tina Truong, Wendy Chung, David Chiang, Deepak A. Rao, J. Carl Pallais, Joseph Loscalzo, Jose Abdenur, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Cara Skraban, Gonench Kilich, Kathleen Sullivan, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shilpa N. Kobren, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Elizabeth Wohler, Julie Hoover‐Fong, Kathleen Page, Matthew Robinson, Nara Sobreira, Paul Auwaerter, Winston Timp, Yuka Manabe, David A. Sweetser, Frances High, Lauren C. Briere, Melissa Walker, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto e Vairo, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Herman Taylor, Rakale C. Quarells, Andrea Gropman, Barbara N. Pusey Swerdzewski, Ben Afzali, Ben Solomon, Camilo Toro, Colleen E. Wahl, Cynthia J. Tifft, David R. Adams, Donna Novacic, Elizabeth A. Burke, Ellen F. Macnamara, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Maria T. Acosta, Marie Morimoto, Marla Sabaii, May Christine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Precilla D'Souza, Valerie V. Maduro, Wendy Introne, William A. Gahl, Yan Huang, Vaidehi Jobanputra, Chun‐Hung Chan, D Isum Ward, Francisco Bustos, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Emily Shelkowitz, Eric Allenspach, Katrina Dipple, Seth Perlman, Beth A. Martin, Chloe M. Reuter, Devon Bonner, Euan A. Ashley, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Shruti Marwaha, Stephen B Montgomery, Suha Bachir, Tanner D Jensen, Taylor Maurer, Terra R. Coakley, Dana Sayer, Jennifer Tousseau, Aleksandra Foksinska, Andrew B. Crouse, Anna Hurst, Brandon M Wilk, Bruce R Korf, Elizabeth A Worthey, Kaitlin Callaway, Martin Rodriguez, Matthew Might, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Teneasha Washington, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Kirsten Blanco, Sanaz Attaripour, Tahseen Mozaffar, Alden Huang, Andres Vargas, Brent L. Fogel, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Monte Westerfield, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, Gabor Marth, John Carey, Lorenzo Botto, Matt Velinder, Nicola Longo, Paolo Moretti, Pinar Bayrak‐Toydemir, Rebecca Overbury, Rong Mao, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Runjun Kumar, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, John A. Phillips, Joy D. Cogan, Kimberly Ezell, Lakshitha Perera, Lisa Bastarache, Lynette Rives, Mary Koziura, Rizwan Hamid, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Dustin Baldridge, F. Sessions Cole, Jennifer Wambach, Jimann Shin, Kathleen A. Sisco, Lilianna Solnica‐Krezel, Patricia Dickson, Stephen C. Pak, Timothy Schedl, Lauren Jeffries, María José Ortuño Romero, Odelya Kaufman, Teodoro Jerves Serrano, Yong‐Hui Jiang, Susan Perlman, Stefan M. Pulst, Stanley F. Nelson, Darice Wong, Brent L. Fogel +320 morewiley +1 more sourceReproducibility and accuracy of bacterial methylome profiling using Oxford Nanopore Technologies nanopore sequencing platform
Microbial Genomics Background. Oxford Nanopore Technologies (ONT) enables direct methylome profiling using the Dorado basecaller, but the comparative performance of ONT-only versus hybrid-assembly reference-based methylation calling, particularly regarding inter-operator variability, remains understudied. Taylor Schababerle, Omar Hayat, Jaeone Jung, Minh Le, Isabella Polic, Hanan Wees, Micah Bhatti, Samuel Shelburne, Xiaojun Liu, Awdhesh Kalia +9 moreopenaire +2 more sources