L F Onuchic
- Molecular and cellular pathogenesis of autosomal recessive polycystic kidney diseaseL F Menezes
Disciplina de Nefrologia, Departamento de Clinica Medica, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo 455, Sala 3310, 01246 903 Sao Paulo, SP, Brazil
Braz J Med Biol Res 39:1537-48. 2006..It is notable that vasopressin V2 receptor antagonists can inhibit/halt the renal cystic disease progression in an orthologous rat model of human ARPKD...
- Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohortsA M Sharp
J Med Genet 42:336-49. 2005
- Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease geneJ J Schrick
University of Tennessee Oak Ridge Graduate School for Biomedical Science 37831, USA
Hum Mol Genet 4:559-67. 1995..1. While this gene does not map to the primary locus that has been identified for ARPKD in humans, it may represent a candidate gene for other recessive renal disorders that have yet to be mapped...
- Sequence analysis of the human hTg737 gene and its polymorphic sites in patients with autosomal recessive polycystic kidney diseaseL F Onuchic
Section of Nephrology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Mamm Genome 6:805-8. 1995..1. The polymorphisms found in the htG737 gene will permit its future evaluation as a candidate gene for other recessive cystic renal diseases and as a modifier gene in human PKD...
- Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate geneL F Onuchic
Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
Mamm Genome 10:1175-8. 1999
- Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney diseaseY Hofmann
Institute for Human Genetics, University of Bonn, Germany
Eur J Hum Genet 8:163-6. 2000..Although neither marker was informative in these individuals, they are the closest yet described for PKHD1 and may help to refine the candidate region...
- Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cellsA Boletta
Department of Medicine Division of Nephrology Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Mol Cell 6:1267-73. 2000..Our study suggests that PKD1 may function to regulate both pathways, allowing cells to enter a differentiation pathway that results in tubule formation...