null Thomas Kitzler, MD, FRCPC
Genetics • genomics • whole-exome sequencing • chronic kidney disease • focal segmental glomerulosclerosis • congenital anomalies of the kidney and urinary tract • renal ciliopathies
My research focuses on the study of novel kidney disease genes and their pathways by employing whole-exome sequencing, animal models (e.g., zebrafish), and patient-derived cell based systems.
Kitzler TM, Schneider R, Kohl S et al. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 2019 Oct;138:1105-1115. PMID: 31230195.
Chung CF, Kitzler TM, Kachurina N et al. Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis. PLoS One 2019 May 16;14. PMID: 31095586.
Kitzler TM, Kachurina N, Bitzan NM et al. Use of genomic and fucntional analysis to characterize patients with steroid-resistant nephrotic syndrome. Pediatr Nephrol 2018 Oct;33:1741-1750. PMID: 29982877.
Kitzler TM, Papillon J, Guillemette J et al. Complement modulated the function of the ubiquitin-proteasome system and endoplasmic reticulum-associatd degradation in glomerular epithelial cells. Biochim Biophys Acta 2012 May;1823:1007-16 PMID: 22426620.
Cybulsky AV, Takano T, Papillon J, Kitzler TM, Bijian K. Endoplasmic reticulum stress in glomerular epithelial cell injury. Am J Physiol Renal Physiol 2011 Sep;30:F496-508 PMID: 21159733.