Autophagy Inhibition Enhances Sunitinib Efficacy in Clear Cell Ovarian Carcinoma von DeVorkin, Lindsay, Hattersley, Matthew, Kim, Paul, Ries, Jenna, Spowart, Jaeline, Anglesio, Michael S, Levi, Samuel M, Huntsman, David G, Amaravadi, Ravi K, Winkler, Jeffrey D, Tinker, Anna V, Lum, Julian J

Volltext

Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency von Johnson, Matthew B, Ogishi, Masato, Domingo-Vila, Clara, De Franco, Elisa, Wakeling, Matthew N, Imane, Zineb, Resnick, Brittany, Williams, Evangelia, Galão, Rui Pedro, Caswell, Richard, Russ-Silsby, James, Seeleuthner, Yoann, Rinchai, Darawan, Fagniez, Iris, Benson, Basilin, Dufort, Matthew J, Speake, Cate, Smithmyer, Megan E, Hudson, Michelle, Dobbs, Rebecca, Quandt, Zoe, Hattersley, Andrew T, Zhang, Peng, Boisson-Dupuis, Stephanie, Anderson, Mark S, Casanova, Jean-Laurent, Tree, Timothy I, Oram, Richard A

Volltext

Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum von Riddle, Matthew C, Philipson, Louis H, Rich, Stephen S, Carlsson, Annelie, Franks, Paul W, Greeley, Siri Atma W, Nolan, John J, Pearson, Ewan R, Zeitler, Philip S, Hattersley, Andrew T

Volltext

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress von De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N, Fantuzzi, Federica, Patel, Kashyap, Demarez, Céline, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Väinö, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W, Johnson, Matthew B, Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yıldırım, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E, Vanderhaeghen, Pierre, Senée, Valérie, Julier, Cécile, Marchetti, Piero, Eizirik, Decio L, Ellard, Sian, Saarimäki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, Hattersley, Andrew T

Volltext

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts von De Franco, Elisa, Flanagan, Sarah E, Yagi, Takuya, Abreu, Damien, Mahadevan, Jana, Johnson, Matthew B, Jones, Garan, Acosta, Fernanda, Mulaudzi, Mphele, Lek, Ngee, Oh, Vera, Petz, Oliver, Caswell, Richard, Ellard, Sian, Urano, Fumihiko, Hattersley, Andrew T

Volltext

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction von De Franco, Elisa, Caswell, Richard, Johnson, Matthew B, Wakeling, Matthew N, Zung, Amnon, Dũng, Vũ Chí, Bích Ngọc, Cấn Thị, Goonetilleke, Rajiv, Vivanco Jury, Maritza, El-Khateeb, Mohammed, Ellard, Sian, Flanagan, Sarah E, Ron, David, Hattersley, Andrew T

Volltext

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance von Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.

Volltext

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress von Montaser, Hossam, Patel, Kashyap A, Balboa, Diego, Ibrahim, Hazem, Lithovius, Väinö, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M, Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T, Saarimäki-Vire, Jonna, Otonkoski, Timo

Volltext

Bayesian refinement of association signals for 14 loci in 3 common diseases von Maller, Julian B, McVean, Gilean, Byrnes, Jake, Vukcevic, Damjan, Palin, Kimmo, Su, Zhan, Howson, Joanna M M, Auton, Adam, Myers, Simon, Morris, Andrew, Pirinen, Matti, Brown, Matthew A, Burton, Paul R, Caulfield, Mark J, Compston, Alastair, Farrall, Martin, Hall, Alistair S, Hattersley, Andrew T, Hill, Adrian V S, Mathew, Christopher G, Pembrey, Marcus, Satsangi, Jack, Stratton, Michael R, Worthington, Jane, Craddock, Nick, Hurles, Matthew, Ouwehand, Willem, Parkes, Miles, Rahman, Nazneen, Duncanson, Audrey, Todd, John A, Kwiatkowski, Dominic P, Samani, Nilesh J, Gough, Stephen C L, McCarthy, Mark I, Deloukas, Panagiotis, Donnelly, Peter

Volltext

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP von Perera, Luke A, Hattersley, Andrew T, Harding, Heather P, Wakeling, Matthew N, Flanagan, Sarah E, Mohsina, Ibrahim, Raza, Jamal, Gardham, Alice, Ron, David, De Franco, Elisa

Volltext

Vaccine effectiveness against COVID-19 breakthrough infections in patients with cancer (UKCCEP): a population-based test-negative case-control study von Lee, Lennard Y W, Starkey, Thomas, Ionescu, Maria C, Little, Martin, Tilby, Michael, Tripathy, Arvind R, Mckenzie, Hayley S, Al-Hajji, Youssra, Barnard, Matthew, Benny, Liza, Burnett, Alexander, Cattell, Emma L, Charman, Jackie, Clark, James J, Khan, Sam, Ghafoor, Qamar, Illsley, George, Harper-Wynne, Catherine, Hattersley, Rosie J, Lee, Alvin J X, Leonard, Pauline C, Liu, Justin K H, Kinloch, Emma, Lam, Emily, Murphy, Gillian, Rhodes, Malcolm, Robinson, Kate, Pang, Matthew, Pascoe, Jennifer S, Platt, James R, Potter, Vanessa A, Randle, Amelia, Rigg, Anne S, Robinson, Tim M, Roques, Tom W, Roux, René L, Rozmanowski, Stefan, Tuthill, Mark H, Watts, Isabella, Williams, Sarah, Iveson, Tim, Lee, Siow Ming, Middleton, Gary, Middleton, Mark, Protheroe, Andrew, Fittall, Matthew W, Fowler, Tom, Johnson, Peter

Volltext

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY von Laver, Thomas W, Wakeling, Matthew N, Knox, Olivia, Colclough, Kevin, Wright, Caroline F, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N, Patel, Kashyap A

Volltext

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus von Russ-Silsby, James, Patel, Kashyap A., Laver, Thomas W., Hawkes, Gareth, Johnson, Matthew B., Wakeling, Matthew N., Patil, Prashant P., Hattersley, Andrew T., Flanagan, Sarah E., Weedon, Michael N., De Franco, Elisa

Volltext

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism von Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A. L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.

Volltext

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes von Donis, Russell, Patel, Kashyap A, Wakeling, Matthew N, Johnson, Matthew B, Amoli, Masha M, Yildiz, Melek, Akçay, Teoman, Aspi, Irani, Yong, James, Yaghootkar, Hanieh, Weedon, Michael N, Hattersley, Andrew T, Flanagan, Sarah E, De Franco, Elisa

Volltext

Phantasia–The psychological significance of lifelong visual imagery vividness extremes von Zeman, Adam, Milton, Fraser, Della Sala, Sergio, Dewar, Michaela, Frayling, Timothy, Gaddum, James, Hattersley, Andrew, Heuerman-Williamson, Brittany, Jones, Kealan, MacKisack, Matthew, Winlove, Crawford

Volltext

Common Variation in the FTO Gene Alters Diabetes-Related Metabolic Traits to the Extent Expected Given Its Effect on BMI von FREATHY, Rachel M, TIMPSON, Nicholas J, LINDGREN, Cecilia M, LANGO, Hana, MELZER, David, FERRUCCI, Luigi, PAOLISSO, Giuseppe, NEVILLE, Matthew J, KARPE, Fredrik, PALMER, Colin N. A, MORRIS, Andrew D, ELLIOTT, Paul, LAWLOR, Debbie A, JARVELIN, Marjo-Riitta, DAVEY SMITH, George, MCCARTHY, Mark I, HATTERSLEY, Andrew T, FRAYLING, Timothy M, POUTA, Anneli, BEN-SHLOMO, Yoav, RUOKONEN, Aimo, EBRAHIM, Shah, SHIELDS, Beverley, ZEGGINI, Eleftheria, WEEDON, Michael N

Volltext

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes von Johnson, Matthew B, De Franco, Elisa, Lango Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Razavi, Zahra, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T, Flanagan, Sarah E

Volltext

The landscape of therapeutic vulnerabilities in EGFR inhibitor osimertinib drug tolerant persister cells von Criscione, Steven W., Martin, Matthew J., Oien, Derek B., Gorthi, Aparna, Miragaia, Ricardo J., Zhang, Jingwen, Chen, Huawei, Karl, Daniel L., Mendler, Kerrin, Markovets, Aleksandra, Gagrica, Sladjana, Delpuech, Oona, Dry, Jonathan R., Grondine, Michael, Hattersley, Maureen M., Urosevic, Jelena, Floc’h, Nicolas, Drew, Lisa, Yao, Yi, Smith, Paul D.

Volltext

Monogenic autoimmune diseases of the endocrine system von Johnson, Matthew B, BSc, Hattersley, Andrew T, Prof, Flanagan, Sarah E, Dr

Volltext