The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
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Vicente E. Torres | Dawn S. Milliner | Peter C. Harris | Tam P. Sneddon | Marie C. Hogan | J. Cunningham | V. Torres | P. Harris | Xiaofang Wang | C. Ward | S. Rossetti | R. Bacallao | M. Hogan | V. Kubly | D. Walker | M. Ishibashi | D. Milliner | Robert Bacallao | Sandro Rossetti | Julie M. Cunningham | Christopher J. Ward | Xiaofang Wang | Denise Walker | Tam Sneddon | Vicky Kubly | Masahiko Ishibashi | Vickie J. Kubly
[1] F. Stapleton,et al. Polycystic kidney disease in the first year of life. , 1987, The Journal of pediatrics.
[2] Erik L. L. Sonnhammer,et al. A Hidden Markov Model for Predicting Transmembrane Helices in Protein Sequences , 1998, ISMB.
[3] V. Desmet. Congenital diseases of intrahepatic bile ducts: Variations on the theme “ductal plate malformation” , 1992, Hepatology.
[4] M. Poo,et al. Plexins Are a Large Family of Receptors for Transmembrane, Secreted, and GPI-Anchored Semaphorins in Vertebrates , 1999, Cell.
[5] J. Blickman,et al. Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. , 1995, AJR. American journal of roentgenology.
[6] E. Avner,et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. , 1998, American journal of medical genetics.
[7] S. Brunak,et al. SHORT COMMUNICATION Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites , 1997 .
[8] G. Striker,et al. Glomerular epithelial, mesangial, and endothelial cell lines from transgenic mice. , 1988, Kidney international.
[9] E. Avner,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 , 1999, Mammalian Genome.
[10] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[11] P. Kaplan,et al. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. , 1988, American journal of medical genetics.
[12] M. Kozak. An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. , 1987, Nucleic acids research.
[13] P. Ratcliffe,et al. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker , 1991, The Lancet.
[14] E. L. Potter,et al. PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 1 DUE TO HYPERPLASIA OF INTERSTITIAL PORTIONS OF COLLECTING TUBULES. , 1964, Archives of pathology.
[15] B. Rost,et al. Topology prediction for helical transmembrane proteins at 86% accuracy–Topology prediction at 86% accuracy , 1996, Protein science : a publication of the Protein Society.
[16] B. G. Ockenden,et al. Polycystic disease of kidney and liver presenting in childhood. , 1971, Journal of medical genetics.
[17] J. Calvet. Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation? , 1993, Kidney international.
[18] Manuel G. Claros,et al. TopPred II: an improved software for membrane protein structure predictions , 1994, Comput. Appl. Biosci..
[19] E. Avner,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 , 2000, European Journal of Human Genetics.
[20] P. Oefner,et al. Denaturing high‐performance liquid chromatography: A review , 2001, Human mutation.
[21] E. Avner,et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. , 1995, American journal of human genetics.
[22] B J Keats,et al. Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. , 2000, Gene.
[23] K. Zerres,et al. Cystic kidneys , 2004, Human Genetics.
[24] B. Snel,et al. Domains in plexins: links to integrins and transcription factors. , 1999, Trends in biochemical sciences.
[25] R. Norio,et al. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data , 1988, Pediatric Nephrology.
[26] M. Braun,et al. Sequence of MET protooncogene cDNA has features characteristic of the tyrosine kinase family of growth-factor receptors. , 1987, Proceedings of the National Academy of Sciences of the United States of America.
[27] Y. Nakanuma,et al. Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. , 2001, The American journal of pathology.
[28] Richard S. Trompeter,et al. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors , 1997, Pediatric Nephrology.
[29] E. Avner,et al. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. , 1998, Genomics.
[30] R. Pearson,et al. Protein kinase phosphorylation site sequences and consensus specificity motifs: tabulations. , 1991, Methods in enzymology.
[31] B. Kaplan,et al. Autosomal recessive polycystic kidney disease , 2004, Pediatric Nephrology.
[32] K. Zerres,et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender , 1996, Acta paediatrica.
[33] K. Zerres,et al. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships , 1995, Clinical genetics.
[34] M. Uhari,et al. POLYCYSTIC KIDNEY DISEASE OF PERINATAL TYPE , 1979, Acta paediatrica Scandinavica.
[35] A. N. Goncharuk,et al. A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. , 1999, Genomics.
[36] V. Torres,et al. The pck rat: a new model that resembles human autosomal dominant polycystic kidney and liver disease. , 2001, Kidney international.
[37] W E Sweeney,et al. Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. , 1994, Science.
[38] B. Wirth,et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen , 1994, Nature Genetics.
[39] C. Burge,et al. Computational inference of homologous gene structures in the human genome. , 2001, Genome research.
[40] E. Leonard,et al. Identification of the ron gene product as the receptor for the human macrophage stimulating protein. , 1994, Science.
[41] V. Torres,et al. A complete mutation screen of the ADPKD genes by DHPLC. , 2002, Kidney international.
[42] E. Avner,et al. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. , 1997, Genomics.
[43] K. Zerres,et al. Autosomal recessive polycystic kidney disease , 1992, The clinical investigator.