Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Autor: Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

Publikováno v: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)

Abstract Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with i

Externí odkaz: https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5

Investigating the Effect of Lithosphere Thickness and Viscosity on Mantle Dynamics Throughout the Supercontinent Cycle

Autor: A. Plimmer, J. H. Davies, J. Panton

Publikováno v: Geochemistry, Geophysics, Geosystems, Vol 25, Iss 11, Pp n/a-n/a (2024)

Abstract The relationship between the lithosphere and the mantle during the supercontinent cycle is complex and poorly constrained. The processes which drive dispersal are often simplified to two end members: slab pull and plume push. We aim to explo

Externí odkaz: https://doaj.org/article/e2ba3cecd84e4574b78d7c55bfeb3e4a

Immunological and microbial shifts in the aging rhesus macaque lung during nontuberculous mycobacterial infection

Autor: Isaac R. Cinco, Ethan G. Napier, Nicholas S. Rhoades, Michael H. Davies, Derek B. Allison, Steven G. Kohama, Luiz Bermudez, Kevin Winthrop, Cristina Fuss, Eliot R. Spindel, Ilhem Messaoudi

Publikováno v: mBio, Vol 15, Iss 6 (2024)

ABSTRACT Nontuberculous mycobacteria (NTM) are environmentally ubiquitous organisms that predominately cause NTM pulmonary disease (NTMPD) in individuals over the age of 65. The incidence of NTMPD has increased in the U.S., exceeding that of Mycobact

Externí odkaz: https://doaj.org/article/89a22a37f1974bcca987ff07ebaeda52

Evaluating pharmacological THRomboprophylaxis in Individuals undergoing superficial endoVEnous treatment across NHS and private clinics in the UK: a multi-centre, assessor-blind, randomised controlled trial—THRIVE trial

Autor: John Norrie, Rebecca Lawton, Joseph Shalhoub, Beverley J Hunt, Annya Stephens-Boal, Tamara Everington, Joanne Dunbar, Sarah Onida, Layla Bolton, Manjit Gohel, A H Davies, Laura Burgess, Matthew Machin, Steven Rogers, Sarah Whittley, Sandip Nandhra, Daniel Carradice, Benedict Turner, Mark S Whiteley, Carolyn Singer

Publikováno v: BMJ Open, Vol 14, Iss 2 (2024)

Introduction Endovenous therapy is the first choice management for symptomatic varicose veins in NICE guidelines, with 56–70 000 procedures performed annually in the UK. Venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmona

Externí odkaz: https://doaj.org/article/e34664ba5212417aa5902c7300d21b11

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Autor: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Publikováno v: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We

Externí odkaz: https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3