Area of research
Genetics · Pathology and Forensic Medicine
Research interest
Research focused on Autosomal Recessive Polycystic Kidney Disease and Phenocopy, with related work in Gene, Cilium, Transcription factor. Notable publications include 'Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression', 'Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease', and 'Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease'.
Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1
Cystin is required for maintaining fibrocystin ( <scp>FPC</scp> ) levels and safeguarding proteome integrity in mouse renal epithelial cells
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression