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
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
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 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 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
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
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
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
Probing glycine receptor stoichiometry in superficial dorsal horn neurones using the spasmodic mouse
- Creator: Graham, B. A. , Tadros, M. A. , Schofield, P. R. , Callister, R. J.
- Resource Type: journal article
- Date: 2011
Switching strategies to mitigate HIV mutation
- Creator: Hernandez-Vargas, Esteban Abelardo , Colaneri, Patrizio , Middleton, Richard H.
- Resource Type: journal article
- Date: 2014
A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease
- Creator: Hooper, Amanda J. , Tran, Huy A. , Formby, Mark R. , Burnett, John R.
- Resource Type: journal article
- Date: 2008
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
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
Planning the Human Variome Project: the Spain report
- Creator: Kaput, Jim , Cotton, Richard G. H. , Bapat, Bharati , Bernstein, Inge T. , Bhak, Jong , Bleoo, Stacey L. , Blöcker, Helmut , Brenner, Steven E. , Burn, John , Bustamante, Mariona , Calzone, Rita , Scott, Rodney J. , Hardman, Lauren , Watson, Michael , Aqeel, Aida I. Al , Al-Aama, Jumana Y. , Al-Mulla, Fahd , Alonso, Santos , Aretz, Stefan , Auerbach, Arleen D.
- Resource Type: journal article
- Date: 2009
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
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
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
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
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
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