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null Thomas Kitzler, MD, FRCPC

Junior Scientist, RI-MUHC , Glen site

Child Health and Human Development Program

Centre for Translational Biology

Assistant Professor, Department of Human Genetics, Faculty of Medicine, McGill University

Department of Medicine, Division of Genetics, MUHC

 

Keywords


Genetics • genomics • whole-exome sequencing • chronic kidney disease • focal segmental glomerulosclerosis • congenital anomalies of the kidney and urinary tract • renal ciliopathies

Research Focus


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.

Selected Publications


Click on Pubmed to see my current publications list

  • 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.