Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition
- Creator: Palmer, Elizabeth E. , Pusch, Michael , Nizon, Mathilde , Cogné, Benjamin , Beneteau, Claire , Alkuraya, Fowzan S. , Chedrawi, Aziza , Hashem, Mais O. , Stamberger, Hannah , Weckhuysen, Sarah , Vanlander, Arnaud , Ceulemans, Berten , Picollo, Alessandra , Rajagopalan, Sulekha , Nunn, K , Arpin, S , Raynaud, M , Motter, CS , Ward-Melver, C , Janssens, K , Meuwissen, M , Beysen, D , Dikow, N , Forwood, Caitlin , Grimmel, M , Haack, TB , Clement, E , McTague, A , Hunt, D , Townshend, S , Ward, M , Richards, LJ , Simons, C , Costain, G , Nguyen, Matthew H. , Dupuis, L , Mendoza-Londono, R , Dudding-Byth, Tracy , Boyle, J , Saunders, C , Fleming, E , El Chehadeh, S , Spitz, MA , Piton, A , Gerard, B , Suckow, Vanessa , Abi Warde, MT , Rea, G , McKenna, C , Douzgou, S , Banka, S , Akman, C , Bain, JM , Sands, TT , Wilson, GN , Silvertooth, EJ , Gibbons, Jessica , Miller, L , Lederer, D , Sachdev, R , Macintosh, R , Monestier, O , Karadurmus, D , Collins, F , Carter, M , Rohena, L , Willemsen, MH , Hoff, Alva , Ockeloen, CW , Pfundt, R , Kroft, SD , Field, M , Laranjeira, FER , Fortuna, AM , Soares, AR , Michaud, V , Naudion, S , Golla, S , Sigfrid, Lisa , Weaver, DD , Bird, LM , Friedman, J , Clowes, V , Joss, S , Pölsler, L , Campeau, PM , Blazo, M , Bijlsma, EK , Rosenfeld, JA , Megarbane, Andre , Beetz, C , Powis, Z , McWalter, K , Brandt, T , Torti, E , Mathot, M , Mohammad, SS , Armstrong, R , Kalscheuer, VM
- Resource Type: journal article
- Date: 2023
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
Salt taste genotype, dietary habits and biomarkers of health: no associations in an elderly cohort
- Creator: Ferraris, Celeste , Turner, Alexandria , Kiranjit, Kaur , Piper, Jessica , Veysey, Martin , Lucock, Mark , Beckett, Emma L.
- Resource Type: journal article
- Date: 2020
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
- Creator: Huckins, Laura M. , Buccola, NG , Buckner, RL , Byerley, W , Cahn, W , Cai, G , Campion, D , Cantor, RM , Carr, VJ , Carrera, N , Catts, SV , Chambert, KD , Chan, RCK , Chen, RYL , Chen, EYH , Cheng, W , Cheung, EFC , Chong, SA , Cloninger, CR , Cohen, D , Cohen, N , Cormican, P , Craddock, N , Crowley, JJ , Curtis, D , Davidson, M , Davis, KL , Degenhardt, F , Del Favero, J , Demontis, D , Dikeos, D , Dinan, T , Djurovic, S , Donohoe, G , Drapeau, E , Duan, J , Dudbridge, F , Durmishi, N , Eichhammer, P , Eriksson, J , Dobbyn, Amanda , Boocock, James , Roussos, Panos , Fromer, Menachem , Kramer, Robin , Domenici, Enrico , Gamazon, Eric R. , Purcell, Shaun , Johnson, Jessica S. , Shah, Hardik R. , Klein, Lambertus L. , Ruderfer, Douglas M. , Henskens, Frans A. , Loughland, Carmel M. , Schall, Ulrich , Michie, Patricia T. , Scott, Rodney J. , Gur, RE , Hahn, CG , Schadt, E , Lewis, DA , Haroutunian, V , Hoffman, Gabriel , Peters, MA , Lipska, BK , Buxbaum, JD , Hirai, K , Perumal, TM , Essioux, L , Ripke, S , Neale, BM , Corvin, A , Walters, JTR , Wang, Weiqing , Farh, KH , Holmans, PA , Lee, P , Bulik-Sullivan, B , Collier, DA , Huang, H , Pers, TH , Agartz, I , Agerbo, E , Albus, M , Pardiñas, Antonio F. , Alexander, M , Amin, F , Bacanu, SA , Begemann, M , Belliveau, RA , Bene, J , Henskens, FA , Loughland, CM , Michie, PT , Schall, U , Rajagopal, Veera M. , Scott, RJ , Als, Thomas D. , Nguyen, Hoang T. , Girdhar, Kiran
- Resource Type: journal article
- Date: 2019
JMJD6 is a tumorigenic factor and therapeutic target in neuroblastoma
- Creator: Wong, Matthew , Sun, Yuting , Xi, Zhichao , Milazzo, Giorgio , Poulos, Rebecca C. , Bartenhagen, Christoph , Bell, Jessica L. , Mayoh, Chelsea , Ho, Nicholas , Tee, Andrew E. , Chen, Xiaoqiong , Li, Yang , Ciaccio, Roberto , Liu, Pei Y. , Jiang, Chen C. , Lan, Qing , Jayatilleke, Nisitha , Cheung, Belamy B. , Haber, Michelle , Norris, Murray D. , Zhang, Xu D. , Marshall, GM , Wang, JY , Huettelmaier, S , Fischer, M , Wong, JWH , Xu, H , Perini, G , Dong, Q , George, RE , Liu, T
- Resource Type: journal article
- Date: 2019
LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription
- Creator: Yari, Hamed , Jin, Lei , Teng, Liu , Wang, Yufang , Wu, Yongyan , Liu, Guang Zhi , Gao, Wei , Liang, Jin , Xi, Yanfeng , Feng, Yu Chen , Zhang, Chunming , Zhang, Yuan Yuan , Tabatabaee, Hessam , La, Ting , Yang, Rui Hong , Wang, Fu Hua , Yan, Xu Guang , Farrelly, Margaret , Scott, Rodney , Liu, Tao , Thorne, Rick F. , Guo, Su Tang , Zhang, Xu Dong
- Resource Type: journal article
- Date: 2019
Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin
- Creator: Avery-Kiejda, Kelly A. , Zhang, Xu Dong , Adams, Luke J. , Scott, Rodney J. , Vojtesek, Borivoj , Lane, David P. , Hersey, Peter
- Resource Type: journal article
- Date: 2008
A method for meta-analysis of molecular association studies
- Creator: Thakkinstian, A. , McElduff, P. , D'Este, Catherine Anne , Duffy, D. , Attia, John Richard
- Resource Type: journal article
- Date: 2005
CDKN2A common variants and their association with melanoma risk: A population-based study
- Creator: Debniak, T. , Scott, Rodney J. , Huzarski, T. , Byrski, T. , Rozmiarek, A. , Debniak, B. , Zaluga, E. , Maleszka, R. , Kladny, J. , Gorski, B. , Cybulski, C. , Gronwald, J. , Kurzawski, G. , Lubinski, J.
- Resource Type: journal article
- Date: 2005
Hereditary haemochromatosis: to screen or not to screen? (editorial)
- Creator: Olynyk, J. K. , Trinder, D. , Milward, Adrienne Elizabeth
- Resource Type: journal article
- Date: 2005
Investigation of Nicotiana tabacum (plus) N suaveolens cybrids with carpelloid stamens
- Creator: Fitter, John T. , Thomas, Mark R. , Niu, Chen , Rose, Ray J.
- Resource Type: journal article
- Date: 2005
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
- Creator: So, J. , Suckow, V. , Kijas, Z. , Kalscheuer, V. , Moser, B. , Winter, J. , Baars, M. , Firth, H. , Lunt, P. , Hamel, B. , Meinecke, P. , Moraine, C. , Odent, S. , Schinzel, A. , van der Smagt, J. J. , Devriendt, K. , Albrecht, B. , Gillessen-Kaesbach, G. , van der Burgt, I. , Petrij, F. , Faivre, L. , McGaughran, J. , McKenzie, Fiona , Opitz, J. M. , Cox, T. , Schweiger, S.
- Resource Type: journal article
- Date: 2005
SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome
- Creator: Venables, Julian P. , Dalgliesh, Caroline , Paronetto, Maria Paolo , Skitt, Lindi , Thornton, Jared K. , Saunders, Philippa T. , Sette, Claudio , Jones, Keith T. , Elliott, David J.
- Resource Type: journal article
- Date: 2004