Guay-Woodford, L.M. Autosomal recessive polycystic kidney disease: clinical and genetic profiles. in Polycystic Kidney Disease (eds Watson, M.L. & Torres, V.E.) 237–266 (Oxford University Press, New York, 1996).
Zerres, K., Rudnik-Schöneborn, S., Steinkamm, C., Becker, J. & Mücher, G. Autosomal recessive polycystic kidney disease. J. Mol. Med. 76, 303–309 (1998).
MacRae Dell, K.M. & Avner, E.D. Autosomal recessive polycystic kidney disease. in GeneReviews; Genetic Disease Online Reviews at GeneTests-GeneClinics (University of Washington, Seattle, 2001).
Zerres, K., Volpel, M.-C. & Wei, B.H. Cystic kidneys. Hum. Genet. 68, 104–135 (1984).
McDonald, R., Watkins, S.L. & Avner, E.D. Polycystic kidney disease. in Pediatric Nephrology (eds Barratt, T.M., Avner, E.D. & Harmon, W.E.) 459–480 (Lippincott, Williams and Wilkins, Baltimore, 1999).
Bernstein, J. & Slovis, T.L. Polycystic diseases of the kidney. in Pediatric Kidney Disease Vol. 2 (ed. Edelmann, C.M.) 1139–1157 (Little, Brown, Boston, 1992).
Zerres, K. et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am. J. Med. Genet. 76, 137–144 (1998).
Roy, S., Dillon, M.J., Trompeter, R.S. & Barratt, T.M. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr. Nephrol. 11, 302–306 (1997).
Kaplan, B.S., Fay, J., Shah, V., Dillon, M.J. & Barratt, T.M. Autosomal recessive polycystic kidney disease. Pediatr. Nephrol. 3, 43–49 (1989).
Kaariainen, H., Koskimies, O. & Norio, R. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr. Nephrol. 2, 296–302 (1988).
Osathanondh, V. & Potter, E.L. Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of interstitial portions of the collecting tubules. Archives of Pathology 77, 466–473 (1964).
Blyth, H. & Ockenden, B.G. Polycystic disease of kidneys and liver presenting in childhood. J. Med. Genet. 8, 257–284 (1971).
Cole, B.R., Conley, S.B. & Stapleton, F.B. Polycystic kidney disease in the first year of life. J. Pediatr. 111, 693–699 (1987).
Zerres, K. et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Acta. Paediatr. 85, 437–445 (1996).
Jorgensen, M.J. The ductal plate malformation: a study of the intrahepatic bile duct lesion in infantile polycystic disease and congenital hepatic fibrosis. Acta Pathol. Microbiol. Scand. Suppl. 257, 1–87 (1977).
Desmet, V.J. Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation”. Hepatology 16, 1069–1083 (1992).
Calvet, J.P. Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation? Kidney Int. 43, 101–108 (1993).
Kaplan, B.S. et al. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am. J. Med. Genet. 29, 639–647 (1988).
Deget, F., Rudnik-Schoneborn, S. & Zerres, K. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin. Genet. 47, 248–253 (1995).
Zerres, K. et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genet. 7, 429–432 (1994).
Guay-Woodford, L.M. et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am. J. Hum. Genet. 56, 1101–1107 (1995).
Lens, X.M. et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics 41, 463–466 (1997).
Mücher, G. et al. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.2-p12. Genomics 48, 40–45 (1998).
Park, J.H. et al. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics 57, 249–255 (1999).
Onuchic, L.F. et al. 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 gene. Mamm. Genome 10, 1175–1178 (1999).
Hofmann, Y. et al. Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease. Eur. J. Hum. Genet. 8, 163–166 (2000).
McDonald, R.A. & Avner, E.D. Mouse models of polycystic kidney disease. in Polycystic Kidney Disease (eds Watson, M.L. & Torres, V.E.) 63–87 (Oxford University Press, Oxford, 1996).
Moyer, J.H. et al. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. Science 263, 1329–1333 (1994).
Lager, D.J., Qian, Q., Bengal, R.J., Ishibashi, M. & Torres, V.E. The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease. Kidney Int. 59, 126–136 (2001).
Sanzen, T. et al. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. Am. J. Pathol. 158, 1605–1612 (2001).
Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15, 8125–8148 (1987).
Rossetti, S. et al. A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. (in press) (2002).
Xiao, W. & Oefner, P.J. Denaturing high-performance liquid chromatography: a review. Hum. Mutat. 17, 439–474 (2001).
MacKay, K. et al. Glomerular epithelial, mesangial, and endothelial cell lines from transgenic mice. Kidney Int. 33, 677–684 (1988).
Bork, P., Doerks, T., Springer, T.A. & Snel, B. Domains in plexins: links to integrins and transcription factors. Trends Biochem. Sci. 24, 261–263 (1999).
Park, M. et al. Sequence of MET protooncogene cDNA has features characteristic of the tyrosine kinase family of growth-factor receptors. Proc. Natl Acad. Sci. USA 84, 6379–6383 (1987).
Tamagnone, L. et al. Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Cell 99, 71–80 (1999).
Wang, M.H. et al. Identification of the ron gene product as the receptor for the human macrophage stimulating protein. Science 266, 117–119 (1994).
Scott, D.A. et al. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene 246, 265–274 (2000).
Pearson, R.B. & Kemp, B.E. Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations. Methods Enzymol. 200, 62–81 (1991).
Blickman, J.G., Bramson, R.T. & Herrin, J.T. Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. Am. J. Roentgenol. 164, 1247–1250 (1995).
Uhari, M. & Herva, R. Polycystic kidney disease of perinatal type. Acta Paediatr. Scand. 68, 443–444 (1979).
Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156–159 (1987).
Yeh, R.F., Lim, L.P. & Burge, C.B. Computational inference of homologous gene structures in the human genome. Genome Res. 11, 803–816 (2001).
Harris, P.C. et al. Rapid genetic analysis of families with polycystic kidney disease by means of a microsatellite marker. Lancet 338, 1484–1487 (1991).
Bateman, A. et al. The Pfam protein families database. Nucleic Acids Res. 28, 263–266 (2000).
Nielsen, H., Engelbrecht, J., Brunak, S. & von Heijne, G. Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng. 10, 1–6 (1997).
Sonnhammer, E.L.L., von Heijne, G. & Krogh, A. A hidden Markov model for predicting transmembrane helices in protein sequences. in Proceedings of Sixth International Conference on Intelligent Systems for Molecular Biology (eds Glasgow, J., Littlejohn, T., Major, F., Lathrop, R., Sankoff, D. & Sensen, C.) 175–182 (AAAI, Menlo Park, 1998).
Claros, M.G. & von Heijne, G. TopPred II: an improved software for membrane protein structure predictions. Comput. Appl. Biosci. 10, 685–686 (1994).
Rost, B., Fariselli, P. & Casadio, R. Topology prediction for helical transmembrane proteins at 86% accuracy. Protein Sci. 5, 1704–1718 (1996).