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ASSOCIATION OF PHYSICIANS OF GREAT BRITAIN AND IRELAND 117th Annual Meeting 23-24 May 2024 Frederick Douglass Centre, Newcastle Abstracts 大不列颠及爱尔兰医师协会 第117届年会 2024年5月23-24日 纽卡斯尔弗雷德里克·道格拉斯中心 摘要 Cooles, Faye; Vidal-Pedrola, Gemma; Naamane, Najib; Pratt, Arthur; Barron-Millar, Ben; Anderson, Amy; Hilkens, Catharien; Casement, John; Bondet, Vincent; Duffy, Darragh; Zhang, Fan; Shukla, Ruchi; Isaacs, John; Payne, Miranda; Coupe, Nicholas; Fairfax, Benjamin; Taylor, Chelsea Alice; Mackay, Sophie; Milotay, Gusztav; Bos, Saskia; Hunter, Bethany; Mcdonald, David; Merces, George; Sheldon, Georgia; Pradere, Pauline; Majo, Joaquim; Pulle, Julian; Vanstapel, Arno; Vanaudenaerde, Bart M.; Vos, Robin; Filby, Andrew J.; Fisher, Andrew J.; Collier, Jack; Lambton, James; Suomi, Fumi; Prigent, Magali; Guissart, Claire; Erskine, Daniel; Rozanska, Agata; Mccorvie, Thomas; Trimouille, Aurelien; Imam, Aliza; Hobson, Emma; Mccullagh, Helen; Frengen, Eirik; Misceo, Doriana; Bjerre, Anna; Smeland, Marie; Klingenberg, Claus; Alkuraya, Fowzan; Mcfarland, Robert; Alston, Charlotte; Yue, Wyatt; Legouis, Renaud; Koenig, Michel; Lako, Majlinda; Mcwilliams, Thomas; Olahova, Monika; Taylor, Rob; Newman, William; Harkness, Rob; McDermott, John; Metcalfe, Kay; Khan, Naz; Macken, William; Pitceathly, Robert; Record, Christopher; Maroofian, Reza; Sabir, Ataf; Santra, Saikat; Urquhart, Jill; Demain, Leigh; Byers, Helen; Beaman, Glenda; Yue, Wyatt; Taylor, Robert; Durmusalioglu, Enise; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Reunert, Janine; Marquardt, Thorsten; Ryba, Lukas; Buchert-Lo, Rebecca; Haack, Tobias; Lassuthova, Petra; Polavarapu, Kiran; Lochmuller, Hans; Horvath, Rita; Jamieson, Peter; Reilly, Mary; O'Keefe, Ray; Boggan, Roisin; Ng, Yi Shiau; Franklin, Imogen; Alston, Charlotte; Blakely, Emma; Buechner, Boriana; Bugiardini, Enrico; Colclough, Kevin; Feeney, Catherine; Hanna, Michael; Hattersley, Andrew; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; Patel, Kashyap; Pitceathly, Robert; Pizzamiglio, Chiara; Prokisch, Holger; Schaefer, Jochen; Schaefer, Andrew; Shepherd, Maggie; Thaele, Annemarie; Thomas, Rhys; Turnbull, Doug; Gorman, Grainne; Woodward, Cathy; McFarland, Robert; Taylor, Robert; Cordell, Heather; Pickett, Sarah; Tsilifis, Christo; Pearce, Mark; Gennery, Andrew; Daly, Ann; Darlay, Rebecca; Zatorska, Michalina; Worthington, Sarah; Anstee, Quentin; Cordell, Heather; Reeves, Helen; Nizami, Salem; Mauricio-Muir, Joao; McCain, Misti; Singh, Ranjeet; Wordsworth, James; Kadharusman, Marcello; Watson, Robyn; Masson, Steven; McPherson, Stuart; Burt, Alastair; Tiniakos, Dina; Littler, Peter; Nsengimana, Jeremie; Zhang, Sylvia; Mann, Derek; Jamieson, David; Leslie, Jack; Shukla, Ruchi; Wilson, Caroline; Betts, Jill; Croall, Iain; Hoggard, Nigel; Bennett, Joshua; Naamane, Najib; Hollingsworth, Kieren G.; Pratt, Arthur G.; Egail, Maha; Feeney, Catherine; Di Leo, Valeria; Taylor, Robert W.; Dodds, Richard; Anderson, Amy E.; Sayer, Avan Aihie; Isaacs, John D.; McCracken, Celeste; Condurache, Dorina-Gabriela; Szabo, Liliana; Elghazaly, Hussein; Walter, Fiona; Meade, Adam; Chakraverty, Ronjon; Harvey, Nicholas; Manisty, Charlotte; Petersen, Steffen; Neubauer, Stefan; Raisi-Estabragh, Zahra; Allen, Lowri; Taylor, Peter; Carlsson, Annelie; Hagopian, William; Hedlund, Emma; Hill, Anita; Jones, Angus; Ludvigsson, Johnny; Onengut-Gumuscu, Suna; Redondo, Maria; Rich, Stephen; Gillespie, Kathleen; Dayan, Colin; Oram, Richard; Wonders, Kristy; Schattenberg, Joern; Straub, Beate; Ekstedt, Mattias; Berzigotti, Annalisa; Geier, Andreas; Francque, Sven; Driessen, Ann; Boursier, Jerome; Yki-Jarvinen, Hannele; Arola, Johanna; Aithal, Guruprasad; Holleboom, Adriaan; Verheij, Joanne; Yunis, Carla; Trylesinski, Aldo; Papatheodoridis, George; Petta, Salvatore; Paradis, Valerie; Ratziu, Vlad; Tiniakos, Dina; Anstee, Quentin; Burton, Jenni; Ciminata, Giorgio; Geue, Claudia; Quinn, Terry; Glover, Emily; Morais, Mychel; Reynolds, Gary; Denby, Laura; Ali, Simi; Lennon, Rachel; Sheerin, Neil; Yang, Freda; Zounemat-Kermani, Nazanin; Dixey, Piers; Adcock, Ian M.; Bloom, Chloe I.; Chung, Kian Fan; Govaere, Olivier; Hasoon, Megan; Alexander, Leigh; Cockell, Simon; Tiniakos, Dina; Ekstedt, Mattias; Schattenberg, Joern M.; Boursier, Jerome; Ratziu, Vlad; Daly, Ann K.; Anstee, Quentin M. 分享 收藏
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly Ghaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima 分享 收藏
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis Misceo, Doriana; Lirussi, Lisa; Stromme, Petter; Sumathipala, Dulika; Guerin, Andrea; Wolf, Nicole, I; Server, Andres; Stensland, Maria; Dalhus, Bjorn; Tolun, Aslihan; Kroes, Hester Y.; Nyman, Tuula A.; Nilsen, Hilde L.; Frengen, Eirik 分享 收藏
A single amino acid deletion in the ER Ca2+sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation Gamage, Thilini H.; Grabmayr, Herwig; Horvath, Ferdinand; Fahrner, Marc; Misceo, Doriana; Louch, William Edward; Gunnes, Gjermund; Pullisaar, Helen; Reseland, Janne Elin; Lyngstadaas, Staale Petter; Holmgren, Asbjorn; Amundsen, Silja S.; Rathner, Petr; Cerofolini, Linda; Ravera, Enrico; Krobath, Heinrich; Luchinat, Claudio; Renger, Thomas; Mueller, Norbert; Romanin, Christoph; Frengen, Eirik 分享 收藏
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Saida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi 分享 收藏
DNA methylation episignature in Gabriele-de Vries syndrome Gabriele-de Vries综合征的DNA甲基化表征 Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley; Barat-Houari, Mouna; Butler, Kameryn M.; Coubes, Christine; Lee, Jennifer A.; Le Guyader, Gwenael; Louie, Raymond J.; Patterson, Wesley G.; Tedder, Matthew L.; Bak, Mads; Hammer, Trine Bjorg; Craigen, William; Demurger, Florence; Dubourg, Christele; Fradin, Melanie; Franciskovich, Rachel; Frengen, Eirik; Friedman, Jennifer; Palares, Nathalie Ruiz; Iascone, Maria; Misceo, Doriana; Monin, Pauline; Odent, Sylvie; Philippe, Christophe; Rouxel, Flavien; Saletti, Veronica; Stromme, Petter; Thulin, Perla Cassayre; Sadikovic, Bekim; Genevieve, David 分享 收藏
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Sumathipala, Dulika; Stromme, Petter; Fattahi, Zohreh; Luders, Torben; Sheng, Ying; Kahrizi, Kimia; Einarsen, Ingunn Holm; Sloan, Jennifer L.; Najmabadi, Hossein; van den Heuvel, Lambert; Wevers, Ron A.; Guerrero-Castillo, Sergio; Morkrid, Lars; Valayannopoulos, Vassili; Backe, Paul Hoff; Venditti, Charles P.; van Karnebeek, Clara D.; Nilsen, Hilde; Frengen, Eirik; Misceo, Doriana 分享 收藏
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome CBY1的丢失导致以Joubert综合征为特征的纤毛病 Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjorn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari-Anne M.; Crowley, Suzanne; Sikiric, Alma; Baroy, Tuva; Kasmann-Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine; Patzke, Sebastian; Phelps, Ian G.; Katsanis, Nicholas; Giles, Rachel; Schmidts, Miriam; Zucknick, Manuela; Lienkamp, Soeren S.; Omran, Heymut; Davis, Erica E.; Doherty, Dan; Stromme, Petter; Frengen, Eirik; Bergmann, Carsten; Misceo, Doriana 分享 收藏
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A.; Jongmans, Marjolijn C. J.; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A.; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P.; Wang, Xia 分享 收藏
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik; Foreman, Michelle; Hurtig, Jennifer E.; Enyenihi, Liz; Sterrett, Maria C.; Leung, Sara W.; Schneidman-Duhovny, Dina; Estrada-Veras, Juvianee; Duncan, Jacque L.; Haaxma, Charlotte A.; Kamsteeg, Erik-Jan; Xia, Vivian; Beleford, Daniah; Si, Yue; Douglas, Ganka; Treidene, Hans Einar; van Hoof, Ambro; Fasken, Milo B.; Corbett, Anita H. 分享 收藏
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone Gamage, Thilini H.; Lengle, Emma; Gunnes, Gjermund; Pullisaar, Helen; Holmgren, Asbjorn; Reseland, Janne E.; Merckoll, Else; Corti, Stefania; Mizobuchi, Masahiro; Morales, Raul J.; Tsiokas, Leonidas; Tjonnfjord, Geir E.; Lacruz, Rodrigo S.; Lyngstadaas, Staale P.; Misceo, Doriana; Frengen, Eirik 分享 收藏
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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice Gamage, Thilini H.; Gunnes, Gjermund; Lee, Robert Hugh; Louch, William Edward; Holmgren, Asbjorn; Bruton, Joseph D.; Lengle, Emma; Kolstad, Terje R. Selnes; Revold, Tobias; Amundsen, Silja Svanstrom; Dalen, Knut Tomas; Holme, Pal Andre; Tjonnfjord, Geir Erland; Christensen, Geir; Westerblad, Hakan; Klungland, Arne; Bergmeier, Wolfgang; Misceo, Doriana; Frengen, Eirik 分享 收藏
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration Stromme, Petter; Groeneweg, Stefan; de Souza, Elaine C. Lima; Zevenbergen, Chantal; Torgersbraten, Anette; Holmgren, Asbjorn; Gurcan, Ebrar; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Johansson, Linda Honeren; Babovic, Almira; Zetterberg, Henrik; Heuer, Heike; Frengen, Eirik; Misceo, Doriana; Visser, Theo J. 分享 收藏
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay LINGO1中的双等位基因变体与常染色体隐性智力障碍，小头畸形，言语和运动延迟有关 Ansar, Muhammad; Riazuddin, Saima; Sarwar, Muhammad Tahir; Makrythanasis, Periklis; Paracha, Sohail Aziz; Iqbal, Zafar; Khan, Jamshed; Assir, Muhammad Zaman; Hussain, Mureed; Razzaq, Attia; Polla, Daniel Lopo; Taj, Abid Sohail; Holmgren, Asbjorn; Batool, Naila; Misceo, Doriana; Iwaszkiewicz, Justyna; de Brouwer, Arjan P. M.; Guipponi, Michel; Hanquinet, Sylviane; Zoete, Vincent; Santoni, Federico A.; Frengen, Eirik; Ahmed, Jawad; Riazuddin, Sheikh; van Bokhoven, Hans; Antonarakis, Stylianos E. 分享 收藏
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