Browsing by Subject "Genetic"

Now showing items 1-5 of 5

    • Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. 

      Little, Mark; Cormican, S.; Connaughton, D.M.; Kennedy, C.; Murray, S.; Živná, M.; Kmoch, S.; Fennelly, N.K.; O'Kelly, P.; Benson, K.A.; Conlon, E.T.; Cavalleri, G.; Foley, C.; Doyle, B.; Dorman, A.; Lavin, P.; Kidd, K.; Bleyer, A.J.; Conlon, P.J. (2019)
      Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes. Neither the national or ...

    • Genetic Epidemiology and Cognitive Endophenotyping in Amyotrophic Lateral Sclerosis 

      Ryan, Marie (Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2021)
      Amyotrophic Lateral Sclerosis (ALS) is a progressive debilitating and ultimately fatal neurodegenerative disorder affecting both upper (UMN) and lower (LMN) motor neurons. While it has been long known to exist on a spectrum ...

    • Genotypic and phenotypic insights into an Irish axial spondyloarthritis cohort 

      Kenyon, Marcus (Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2024)
      Axial spondyloarthritis (AxSpA) encompasses a group of closely related chronic inflammatory conditions which primarily affect the lumbar spine. The prototypic presentation of the disease is ankylosing spondylitis, which ...

    • Lack of association between angiotensin-converting enzyme genotype and muscle strength in Peruvian older people 

      Romero-Ortuno, Roman; Oscanoa, T.J.; Cieza, E.C.; Lizaraso-Soto, F.A.; Guevara, M.L.; Fujita, R.M.; Parodi, J.F.; Runzer-Colmenares, F.M. (2020)
      Aging can be associated with decreasing muscle strength, and related factors are comorbidities, sex, physical activity, and possibly genetic factors. Among genetic factors the renin-angiotensin system is of interest, but ...

    • TNXB mutations can cause vesicoureteral reflux. 

      LAVIN, PETER (2013)
      Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support ...