Browsing Wolfson Institute of Preventive Medicine by Subject "Mutation"

Now showing items 1-5 of 5

    • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 

      Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL (2019-05-02)
      The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight ...

    • Clone competition as a mechanism to reduce tumor formation. 

      Acha-Sagredo, A; Malanchi, I; Ciccarelli, FD (2021-12-20)
      With age, clones carrying somatic mutations in well-known cancer driver genes progressively populate adult tissues, yet cancer transformation is rare. In a recent issue of Nature, Colom et al. showed that competition between ...

    • Cost-effectiveness of osimertinib in the treatment of advanced EGFR-mutated non-small cell lung cancer: a systematic review. 

      Nargesi, S; Dolatshahi, Z; Rezapour, A; Alipour, V; Souresrafil, A; Farabi, H; Javadmoosavi, SA; Safakhah, M; Moradi, N (Taylor & Francis, 2021-12-12)
      BACKGROUND: The most common type of lung cancer is advanced and mutant non-small cell lung cancer (NSCLC). Although targeted tyrosine kinase inhibitors (TKIs) have reconstructed the care of these patients, the resistance ...

    • Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. 

      Leonenko, G; Richards, AL; Walters, JT; Pocklington, A; Chambert, K; Al Eissa, MM; Sharp, SI; O'Brien, NL; Curtis, D; Bass, NJ (2017-10)
      Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous ...

    • Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. 

      Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; Hersheson, J; Stamelou, M; Pittman, AM (2014-09)
      GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...