Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
- Creator: Meester, Josephina A. N. , Hebert, Anne , Blankensteijn, Jan D. , Brennan, Paul , Bucks, Stephanie A. , Campbell, Ian M. , Conrad, Solène , Curtis, Stephanie L. , Dasouki, Majed , Dent, Carolyn L. , Eden, James , Goel, Himanshu , Bastiaansen, Maaike , Oakley, Stephen P. , Houweling, AC , Isidor, B , Jackson, N , Koopman, P , Korpioja, A , Kraatari-Tiri, M , Kuulavainen, L , Lee, K , Low, KJ , Rabaut, Laura , Lu, AC , McManus, ML , Oakley, SP , Oliver, J , Organ, NM , Overwater, E , Revencu, N , Trainer, AH , Trivedi, B , Turner, CLS , Bastianen, Jarl , Whittington, R , Zankl, A , Zentner, D , Van Laer, L , Verstraeten, A , Loeys, BL , Boeckx, Nele , Ashcroft, Kathryn , Atwal, Paldeep S. , Benichou, Antoine , Billon, Clarisse
- Resource Type: journal article
- Date: 2024
Genetic mutation of Cep76 results in male infertility due to abnormal sperm tail composition
- Creator: Houston, Brendan J. , Merriner, D. Jo , Stathatos, G. Gemma , Nguyen, Joseph H. , O'Connor, Anne E. , Lopes, Alexandra M. , Conrad, Donald F. , Baker, Mark , Dunleavy, Jessica E. M. , O'Bryan, Moira K.
- Resource Type: journal article
- Date: 2024
Hemochromatosis mutations, brain iron imaging, and dementia in the UK Biobank cohort
- Creator: Atkins, Janice L. , Pilling, Luke C. , Heales, Christine J. , Savage, Sharon , Kuo, Chia-Ling , Kuchel, George A. , Steffens, David C. , Melzer, David
- Resource Type: journal article
- Date: 2021
Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population
- Creator: Rogoza-Janiszewska, Emilia , Malinska, Karolina , Górski, Bohdan , Scott, Rodney J. , Cybulski, Cezary , Kluzniak, Wojciech , Lener, Marcin , Jakubowska, Anna , Gronwald, Jacek , Huzarski, Tomasz , Lubinski, Jan , Debniak, Tadeusz
- Resource Type: journal article
- Date: 2021
The FBXW7-NOTCH interactome: A ubiquitin proteasomal system-induced crosstalk modulating oncogenic transformation in human tissues
- Creator: Kar, Rohan , Jha, Saurabh Kumar , Paudel, Keshav Raj , Hansbro, Philip M. , Kumar Singh, Sandeep , Ruokolainen, Janne , Kesari, Kavinda Kumar , Dua, Kamal , Jha, Niraj Kumar , Ojha, Shreesh , Sharma, Ankur , Dholpuria, Sunny , Raju, Venkata Sita Rama , Prasher, Parteek , Chellappan, Dinesh Kumar , Gupta, Gaurav , Kumar Singh, Sachin
- Resource Type: journal article
- Date: 2021
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients
- Creator: Ngo, Thi Tuyet Dieu , Lea, Rodney A. , Scott, Rodney , Griffiths, Lyn R. , Maksemous, Neen , Eccles, David A. , Smith, Robert A. , Dunn, Paul J. , Thao, Van Cao , Ha, Thi Minh Thi , Bùi, Chi Bao , Haupt, Larisa M.
- Resource Type: journal article
- Date: 2021
Constitutional variants in POT1, TERF2IP, and ACDgenes in patients with melanoma in the Polish population
- Creator: Malińska, Karolina , Deptula, Jakub , Cybulski, Cezary , Kram, Andrzej , Boer, Magdalena , Kiedrowicz, Magdalena , Lubiński, Jan , Dębniak, Tadeusz , Rogoża-Janiszewska, Emilia , Górski, Bohdan , Scott, Rodney , Rudnicka, Helena , Kashyap, Aniruddh , Domagala, Pawel , Hybiak, Jolanta , Masojć, Bartlomiej
- Resource Type: journal article
- Date: 2020
P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships
- Creator: Dean, Benjamin , Chrisp, Georgina L. , Quartararo, Maria , Maguire, Ann M. , Hameed, Shihab , King, Bruce R. , Munns, Craig F. , Torpy, David J. , Falhammar, Henrik , Rushworth, R. Louise
- Resource Type: journal article
- Date: 2020
The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?
- Creator: Aitken, Robert John , Baker, Mark A.
- Resource Type: journal article
- Date: 2020
A missense variant in PTPN22 is a risk factor for drug-induced liver injury
- Creator: Cirulli, Elizabeth T. , Nicoletti, Paola , Abramson, Karen , Andrade, Raul J. , Bjornsson, Einar S. , Chalasani, Naga , Fontana, Robert J. , Hallberg, Par , Li, Yi Ju , Lucena, M. Isabel , Long, Nanye , Molokhia, Mariam , Nelson, Matthew R. , Odin, Joseph A. , Pirmohamed, Munir , Rafnar, Thorunn , Serrano, Jose , Stefánsson, Kari , Stolz, Andrew , Martin, Jennifer H.
- Resource Type: journal article
- Date: 2019
A subsidiary cell-localized glucose transporter promotes stomatal conductance and photosynthesis
- Creator: Wang, Hai , Yan, Shijuan , Li, Shengyan , Zhang, Chunyi , Ruan, Yong-Ling , Chen, Li-Qing , Lang, Zhihong , Xin, Hongjia , Huang, Wenjie , Zhang, Hao , Teng, Shouzhen , Yu, Ya-Chi , Fernie, Alisdair R. , Lu, Xiaoduo , Li, Pengcheng
- Resource Type: journal article
- Date: 2019
Oestrogen fuels the growth of endometrial hyperplastic lesions initiated by overactive Wnt/β-catenin signalling
- Creator: Goad, Jyoti , Ko, Yi-An , Kumar, Manish , Jamaluddin, M. Fairuz B. , Tanwar, Pradeep S.
- Resource Type: journal article
- Date: 2018
Proteomic characterization of the extracellular matrix of human uterine fibroids
- Creator: Jamaluddin, M. Fairuz B. , Nahar, Pravin , Tanwar, Pradeep S.
- Resource Type: journal article
- Date: 2018
RIP1 protects melanoma cells from apoptosis induced by BRAF/MEK inhibitors
- Creator: Lei, Fu Xi , Jin, Lei , Liu, Xiao Ying , Lai, Fritz , Yan, Xu Guang , Farrelly, Margaret , Guo, Su Tang , Zhao, Xin Han , Zhang, Xu Dong
- Resource Type: journal article
- Date: 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
- Creator: Eggers, Stefanie , Sadedin, Simon , Cameron, Fergus , Werther, George , Hutson, John , O'Connell, Michele , Grover, Sonia R. , Heloury, Yves , Zacharin, Margaret , Bergman, Philip , Kimber, Chris , Brown, Justin , van den Bergen, Jocelyn A. , Webb, Nathalie , Hunter, Matthew F. , Srinivasan, Shubha , Titmuss, Angela , Verge, Charles F. , Mowat, David , Smith, Grahame , Smith, Janine , Ewans, Lisa , Shalhoub, Carolyn , Robevska, Gorjana , Crock, Patricia , Cowell, Chris , Leong, Gary M. , Ono, Makato , Lafferty, Antony R. , Huynh, Tony , Visser, Uma , Choong, Catherine S. , McKenzie, Fiona , Pachter, Nicholas , Ohnesorg, Thomas , Thompson, Elizabeth M. , Couper, Jennifer , Baxendale, Anne , Gecz, Jozef , Wheeler, Benjamin J. , Jefferies, Craig , MacKenzie, Karen , Hofman, Paul , Carter, Philippa , King, Richard I. , Hewitt, Jacqueline , Krausz, Csilla , van Ravenswaaij-Arts, Conny M. A. , Looijenga, Leendert , Drop, Sten , Riedl, Stefan , Cools, Martine , Dawson, Angelika , Juniarto, Achmad Zulfa , Khadilkar, Vaman , Khadilkar, Anuradha , Lambeth, Luke , Bhatia, Vijayalakshmi , Dũng, Vũ Chí , Atta, Irum , Raza, Jamal , thi Diem Chi, Nguyen , Hao, Tran Kiem , Harley, Vincent , Koopman, Peter , Warne, Garry , Faradz, Sultana , Bouty, Aurore , Oshlack, Alicia , Ayers, Katie L. , Sinclair, Andrew H. , Knarston, Ingred M. , Tan, Tiong Yang
- Resource Type: journal article
- Date: 2016
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring
- Creator: McPherson, Nicole O. , Fullston, Tod , Aitken, R. John , Lane, Michelle
- Resource Type: journal article
- Date: 2014
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
- Creator: Spurdle, Amanda B. , Couch, Fergus J. , Rhiem, Kerstin , Lissowska, Jolanta , Olson, Janet E. , Pankratz, Vernon S. , John, Esther M. , Whittemore, Alice S. , West, Dee W. , Hamann, Ute , Torres, Diana , Ulmer, Hans Ulrich , Rüdiger, Thomas , Hahnen, Eric , Devilee, Peter , Tollenaar, Robert AEM , Seynaeve, Caroline , Van Asperen, Christi J , Eccles, Diana M , Tapper, William J , Durcan, Lorraine , Jones, Louise , Peto, Julian , dos-Santos-Silva, Isabel , Engel, Christoph , Fletcher, Olivia , Johnson, Nichola , Dwek, Miriam , Swann, Ruth , Bane, Anita L. , Glendon, Gord , Mulligan, Anna M. , Giles, Graham G. , Milne, Roger L , Baglietto, Laura , Meindl, Alfons , McLean, Catriona , Carpenter, Jane , Clarke, Christine , Scott, Rodney , Brauch, Hiltrud , Brüning, Thomas , Ko, Yon-Dschun , Cox, Angela , Cross, Simon S. , Reed, Malcolm W. R. , Ditsch, Nina , Lubinski, Jan , Jaworska-Bieniek, Katarzyna , Durda, Katarzyna , Gronwald, Jacek , Dörk, Thilo , Bogdanova, Natalia , Park-Simon, Tjoung-Won , Hillemanns, Peter , Haiman, Christopher A. , Henderson, Brian E. , Arnold, Norbert , Schumacher, Fredrick , Le Marchand, Loic , Burwinkel, Barbara , Marme, Frederik , Surovy, Harald , Yang, Rongxi , Anton-Culver, Hoda , Ziogas, Argyrios , Hooning, Maartje J. , Collée, J. Margriet , Plendl, Hansjoerg , Martens, John W. M. , Tilanus-Linthorst, Madeleine M. A. , Brenner, Hermann , Dieffenbach, Aida Karina , Arndt, Volke , Stegmaier, Christa , Winqvist, Robert , Pylkäs, Katri , Jukkola-Vuorinen, Arja , Grip, Mervi , Niederacher, Dieter , Lindblom, Annika , Margolin, Sara , Joseph, Vijai , Robson, Mark , Rau-Murthy, Rohini , González-Neira, Anna , Arias, José Ignacio , Zamora, Pilar , Benítez, Javier , Mannermaa, Arto , Sutter, Christian , Kataja, Vesa , Kosma, Veli-Matti , Hartikainen, Jaana M. , Peterlongo, Paolo , Zaffaroni, Daniela , Barile, Monica , Capra, Fabio , Radice, Paolo , Teo, Soo H. , Easton, Douglas F. , Wang-Gohrke, Shan , Antoniou, Antonis C. , Chenevix-Trench, Georgia , Goldgar, David E. , Parsons, Michael T. , Steinemann, Doris , Preisler-Adams, Sabine , Kast, Karin , Varon-Mateeva, Raymonda , Ellis, Steve , Frost, Debra , Platte, Radka , Perkins, Jo , Evans, D. Gareth , Izatt, Louise , McGuffog, Lesley , Eeles, Ros , Adlard, Julian , Davidson, Rosemarie , Cole, Trevor , Scuvera, Giulietta , Manoukian, Siranoush , Bonanni, Bernardo , Mariette, Frederique , Fortuzzi, Stefano , Viel, Alessandra , Barrowdale, Daniel , Pasini, Barbara , Papi, Laura , Varesco, Liliana , Balleine, Rosemary , Nathanson, Katherine L. , Domchek, Susan M. , Offitt, Kenneth , Jakubowska, Anna , Lindor, Noralane , Thomassen, Mads , Bolla, Manjeet K. , Jensen, Uffe Birk , Rantala, Johanna , Borg, Åke , Andrulis, Irene L. , Miron, Alexander , Hansen, Thomas V. O. , Caldes, Trinidad , Neuhausen, Susan L. , Toland, Amanda E. , Nevanlinna, Heli , Wang, Qin , Montagna, Marco , Garber, Judy , Godwin, Andrew K. , Osorio, Ana , Factor, Rachel E. , Terry, Mary B. , Rebbeck, Timothy R. , Karlan, Beth Y. , Southey, Melissa , Rashid, Muhammad Usman , Healey, Sue , Tung, Nadine , Pharoah, Paul D. P. , Blows, Fiona M. , Dunning, Alison M. , Provenzano, Elena , Hall, Per , Czene, Kamila , Schmidt, Marjanka K. , Broeks, Annegien , Cornelissen, Sten , Schmutzler, Rita Katharina , Verhoef, Senno , Fasching, Peter A. , Beckmann, Matthias W. , Ekici, Arif B. , Slamon, Dennis J. , Bojesen, Stig E. , Nordestgaard, Børg G. , Nielsen, Sune F. , Flyger, Henrik , Chang-Claude, Jenny , Wappenschmidt, Barbara , Flesch-Janys, Dieter , Rudolph, Anja , Seibold, Petra , Aittomäki, Kristiina , Muranen, Taru A. , Heikkilä, Päivi , Blomqvist, Carl , Figueroa, Jonine , Chanock, Stephen J. , Brinton, Louise
- Resource Type: journal article
- Date: 2014
Switching strategies to mitigate HIV mutation
- Creator: Hernandez-Vargas, Esteban Abelardo , Colaneri, Patrizio , Middleton, Richard H.
- Resource Type: journal article
- Date: 2014
AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma
- Creator: Hu, W. , Jin, L. , Jiang, C. C. , Long, G. V. , Scolyer, R. A. , Wu, Q. , Zhang, X. D. , Mei, Y. , Wu, M.
- Resource Type: journal article
- Date: 2013