Results 81 to 90 of about 45,967 (259)
Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini +13 morewiley +1 more sourceCo‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...Claude Stoll, Yves Alembik, Marie‐Paule Roth +2 morewiley +1 more sourceTunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction
Advanced NanoBiomed Research, EarlyView.In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...Alexander Chen, Michael B. Nguyen, Elliot Widd, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Houston Harding, Chloe Hurteau, Anika Yogi, Colin Luo, Rebecca L. Braden, Pedro Cabrales, Karen L. Christman +14 morewiley +1 more sourceImmune Complexes Shape the Pathogenicity of Autoantibodies in Systemic Autoimmune Diseases: Insights From an FcγRIIIA‐Reporter Assay
Arthritis &Rheumatology, EarlyView.Objective
Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.Koji Suzuki, Masaru Takeshita, Yuki Imai, Hiroyuki Fukui, Kazunori Furuhashi, Kotaro Matsumoto, Jun Kikuchi, Keiko Yoshimoto, Yuko Kaneko +8 morewiley +1 more sourceHigher complement C4 gene copy number constitutes a shared genetic risk factor for giant cell arteritis and IgA vasculitis
Arthritis &Rheumatology, Accepted Article.Objective
Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...Laura Martínez‐Gutiérrez, Gonzalo Borrego‐Yaniz, José Hernández‐Rodríguez, Carlo Salvarani, María Cinta Cid, Ann W. Morgan, International GCA Consortium, Santos Castañeda, Roser Solans, Jaume Mestre‐Torres, Norberto Ortego‐Centeno, José Luis Callejas, Luis Caminal‐Montero, Marc Corbera‐Bellalta, Eugenio de Miguel, J. Bernardino Díaz‐López, María Jesús García‐Villanueva, Carmen Gómez‐Vaquero, Mercedes Guijarro‐Rojas, Ana Hidalgo‐Conde, Begoña Marí, Alfonso Reyes Ochoa, Agustín Martínez‐Berriochoa, Inmaculada C. Morado, Javier Narváez, Marc Ramentol‐Sintas, Aleida Martínez‐Zapico, Víctor Manuel Martínez‐Taboada, José A. Miranda‐Filloy, Jordi Monfort, Mercedes Pérez‐Conesa, Sergio Prieto‐ González, Enrique Raya, Raquel Ríos‐Fernández, Julio Sánchez Martín, Bernardo Sopeña, Laura Tío, Ainhoa Unzurrunzaga, Peter A Merkel, Nader Khalidi, Carol A. Langford, Steven Ytterberg, Simon Carette, Sharon Chung, David Cuthbertson, Lindsy J. Forbess, Ora Gewurz‐Singer, Gary S. Hoffman, Curry L. Koening, Kathleen M. Maksimowicz‐McKinnon, Carol A. McAlear, Larry W. Moreland, Christian Pagnoux, Philip Seo, Ulrich Specks, Robert F. Spiera, Antoine Sreih, Kenneth J. Warrington, Paul A. Monach, Michael Weisman, Augusto Vaglio, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Marco A Cimmino, Carlo Salvarani, Torsten Witte, Thomas Neumann, Julia Holle, Verena Schönau, Peter Lamprecht, Sebastian Klapa, Gregory Pugnet, Thomas Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P. Diamantopoulo, Alexandre Voskuyl, Yannick van Sleen, Elisabeth Brouwer, Thomas Daikeler, Christoph T. Berger, Eamonn S. Molloy, UK GCA Consortium, Sarah L Mackie, Louise Sorensen, Lubna Haroon Raashid, Steve Martin, Robinson James I, Oliver Wordsworth, Isobel Whitwell, Jessica Brock, Victoria Douglas, Chamila Hettiarachchi, Jacqui Bartholomew, Stephen Jarrett, Gayle Smithson, Michael Green, Pearl Clark Brown, Cathy Lawson, Esther Gordon, Suzanne Lane, Rebecca Francis, Bhaskar Dasgupta, Bridgett Masunda, Jo Calver, Yusuf Patel, Charlotte Thompson, Louise Gregory, Sarah Levy, Ajit Menon, Amy Thompson, Lisa Dyche, Michael Martin, Charles Li, Ramasharan Laxminarayan, Louise Wilcox, Ralph de Guzman, John Isaacs, Alice Lorenzi, Gary Reynolds, Ross Farley, Helain Hinchcliffe‐Hume, Victoria Bejarano, Susan Hope, Pradip Nandi, Lynne Stockham, Catherine Wilde, Donna Durrant, Mark Lloyd, CheeSeng Ye, Rob Stevens, Amjad Jilani, David Collins, Suzannah Pegler, Ali Rivett, Liz Price, Neil McHugh, Sarah Skeoch, Diana O'Kane, Sue Kirkwood, Saravanan Vadivelu, Susan Pugmire, Shabina Sultan, Emma Dooks, Lisa Armstrong, Hala Sadik, Anupama Nandagudi, Tolu Abioye, Angelo Ramos, Steph Gumus, Nidhi Sofat, Abiola Harrison, Abi Seward, Susan Mollan, Ray Rahan, Helen Hawkins, Hedley Emsley, Anna Bhargava, Vicki Fleming, Marianne Hare, Sonia Raj, Emmanuel George, Nicola Allen, Karl Hunter, Eoin O'Sullivan, Georgina Bird, Malgorzata Magliano, Katarina Manzo, Bobbie Sanghera, David Hutchinson, Fiona Hammonds, Poonam Sharma, Richard Cooper, Graeme McLintock, Zaid S. Al‐Saffar, Mike Green, Kerry Elliott, Tania Neale, Janine Mallinson, Peter Lanyon, Marie‐Josephe Pradere, Natasha Jordan, Ei Phyu Htut, Thelma Mushapaidzi, Donna Abercrombie, Sam Wright, Jane Rowlands, Chetan Mukhtyar, James Kennedy, Damodar Makkuni, Elva Wilhelmsen, Michael Kouroupis, Shweta Bhagat, Lily John, Rod Hughes, Margaret Walsh, Marie Buckley, Kirsten Mackay, Tracey Camden‐Woodley, Joan Redome, Kirsty Pearce, Thiraupathy Marianayagam, Carina Cruz, Elizabeth Warner, Ishmael Atchia, Claire Walker, Karen Black, Stacey Duffy, Marwan Bukhari, Lynda Fothergill, Rebecca Jefferey, Jackie Toomey, Ceril Rhys Dillon, Carla Pothecary, Lauren Green, Tracey Toms, Linda Maher, Diana Davis, Amrinder Sayan, Mini Thankachen, Mahdi Abusalameh, Jessica Record, Asad Khan, Sam Stafford, Azza Hussein, Clare Williams, Alison Fletcher, Laura Johson, Richard Burnett, Robert Moots, Helen Frankland, James Dale, Karen Black, Kirsten Moar, Carol Hollas, Ben Parker, Derek Ridings, Sandhya Eapen, Sindhu John, Jo Robson, Lucy Belle Guthrie, Rose Fyfe, Moira Tait, Jonathan Marks, Emma Gunter, Rochelle Hernandez, Smita Bhat, Paul Johnston, Muhammad Khurshid, Charlotte Barclay, Deepti Kapur, Helen Jeffrey, Anna Hughes, Lauren Slack, Eleri Thomas, Anna Royon, Angela Hall, Jon King, Sindi Nyathi, Vanessa Morris, Madhura Castelino, Ellie Hawkins, Linda Tomson, Animesh Singh, Annalyn Nunag, Stella O'Connor, Nathan Rushby, Nicola Hewitson, Kenny O'Sunmboye, Adam Lewszuk, Louise Boyles, Martin Perry, Emma Williams, Christine Graver, Emmanuel Defever, Sanjeet Kamanth, Dominic Kay, Joe Ogor, Louise Winter, Sarah Horton, Gillian Welch, Kath Hollinshead, James Peters, Julius Labao, Andrea Dmello, Julie Dawson, Denise Graham, Denise De Lord, Jo Deery, Tracy Hazelton, Miguel Ángel González‐Gay, Javier Martín, Ana Márquez, Martin Kerick +296 morewiley +1 more sourceAsymptomatic bilateral ureteropelvic junction obstruction due to supernumerary renal arteries.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2008 A supernumerary renal artery is a common arterial variation, which warrants considerations in a variety of urologic and retroperitoneal operations. Supernumerary renal arteries can be associated with other uro-vascular variations and anomalies such as duplicated renal veins and ureters, aberrant origin of the gonadal arteries, persistence of fetal ...Shoja Mohammadali, Tubbs R, Shakeri Abolhassan, Ardalan Mohammad, Rahimi-Ardabili Babak, Ghabili Kamyar +5 moreopenaire +2 more sources