QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
Maharaj, Avinaash V, Ishida, Miho, Rybak, Anna, Elfeky, Reem, Andrews, Afiya, Joshi, Aakash, Elmslie, Frances, Joensuu, Anni, Kantojärvi, Katri, Jia, Raina Y, Perry, John R B, O'Toole, Edel A, McGuffin, Liam J, Hwa, Vivian, Storr, Helen L
Published in Nature communications (28.09.2024)
Published in Nature communications (28.09.2024)
Get full text
Journal Article
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study
Zhao, Yajie, Gardner, Eugene J, Tuke, Marcus A, Zhang, Huairen, Pietzner, Maik, Koprulu, Mine, Jia, Raina Y, Ruth, Katherine S, Wood, Andrew R, Beaumont, Robin N, Tyrrell, Jessica, Jones, Samuel E, Lango Allen, Hana, Day, Felix R, Langenberg, Claudia, Frayling, Timothy M, Weedon, Michael N, Perry, John R B, Ong, Ken K, Murray, Anna
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
Get full text
Journal Article
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease
Zhao, Yajie, Chukanova, Maria, Kentistou, Katherine A, Fairhurst-Hunter, Zammy, Siegert, Anna Maria, Jia, Raina Y, Dowsett, Georgina K C, Gardner, Eugene J, Lawler, Katherine, Day, Felix R, Kaisinger, Lena R, Tung, Yi-Chun Loraine, Lam, Brian Yee Hong, Chen, Hsiao-Jou Cortina, Wang, Quanli, Berumen-Campos, Jaime, Kuri-Morales, Pablo, Tapia-Conyer, Roberto, Alegre-Diaz, Jesus, Barroso, Inês, Emberson, Jonathan, Torres, Jason M, Collins, Rory, Saleheen, Danish, Smith, Katherine R, Paul, Dirk S, Merkle, Florian, Farooqi, I Sadaf, Wareham, Nick J, Petrovski, Slavé, O'Rahilly, Stephen, Ong, Ken K, Yeo, Giles S H, Perry, John R B
Published in Nature genetics (01.04.2024)
Published in Nature genetics (01.04.2024)
Get full text
Journal Article
Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health
Lockhart, Sam M, Muso, Milan, Zvetkova, Ilona, Lam, Brian Y H, Ferrari, Alessandra, Schoenmakers, Erik, Duckett, Katie, Leslie, Jack, Collins, Amy, Romartínez-Alonso, Beatriz, Tadross, John A, Jia, Raina, Gardner, Eugene J, Kentistou, Katherine, Zhao, Yajie, Day, Felix, Mörseburg, Alexander, Rainbow, Kara, Rimmington, Debra, Mastantuoni, Matteo, Harrison, James, Nus, Meritxell, Guma'a, Khalid, Sherratt-Mayhew, Sam, Jiang, Xiao, Smith, Katherine R, Paul, Dirk S, Jenkins, Benjamin, Koulman, Albert, Pietzner, Maik, Langenberg, Claudia, Wareham, Nicholas, Yeo, Giles S, Chatterjee, Krishna, Schwabe, John, Oakley, Fiona, Mann, Derek A, Tontonoz, Peter, Coll, Anthony P, Ong, Ken, Perry, John R B, O'Rahilly, Stephen
Published in Nature metabolism (25.09.2024)
Published in Nature metabolism (25.09.2024)
Get more information
Journal Article