Area of research
Genetics · Molecular Biology
Research interest
Research interests include Medicine, Biology, Autosomal Recessive Polycystic Kidney Disease, Polycystic kidney disease, Disease, and Internal medicine.
Tolvaptan for Children and Adolescents with Autosomal Dominant 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
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) Consensus Workshop
Health-related quality of life in glomerular disease
Heterozygous <i>Pkhd1</i><sup>C642*</sup> mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney
Treatment Patterns Among Adults and Children With Membranous Nephropathy in the Cure Glomerulonephropathy Network (CureGN)
CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease
Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial
The Future of Polycystic Kidney Disease Research—As Seen By the 12 Kaplan Awardees
Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse
Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
Expanding the phenotype of proteinuria in Dent disease. A case series
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD
The Ciliary Protein Cystin Forms a Regulatory Complex with Necdin to Modulate Myc Expression
Kidney Volume and Functional Outcomes in Autosomal Dominant Polycystic Kidney Disease
Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease