A Loss-of-Function Model for Cystogenesis in Human Autosomal Dominant Polycystic Kidney Disease Type 2

1999/08/01 by Roser Torrá, Roser Torra, Célia Bádenas +6 · 54 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Autosomal dominant polycystic kidney disease #Biology #Cancer research #Cyst #Gene #Genetic Syndromes and Imprinting #Genetic and Kidney Cyst Diseases #Genetics #Germline mutation #Kidney #Locus (genetics) #Loss of heterozygosity #Medicine #Mutation #PKD1 #Pathology #Polycystic kidney disease #Renal and related cancers #Somatic cell

paper · pdf · doi:10.1086/302501

published in The American Journal of Human Genetics 65(2), 345-352 (Elsevier BV)

crossref issued 1999/08/01 · crossref published 1999/08/01 · crossref published-print 1999/08/01 · openalex publication_date 1999/08/01 · crossref created 2002/07/26 · openalex created_date 2025/10/10 · crossref deposited 2025/11/02 · crossref indexed 2026/05/08 · openalex updated_date 2026/07/27

Citations

• Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease
• Comparison of phenotypes of polycystic kidney disease types 1 and 2

Cited by

• Autosomal dominant polycystic kidney disease
• Autosomal dominant polycystic kidney disease [wikipedia]