PubRank

S Somlo

Author PubWeight™ 64.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996 6.56
2 Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell 1998 3.84
3 PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet 1997 3.58
4 Identification and characterization of polycystin-2, the PKD2 gene product. J Biol Chem 1999 2.74
5 Getting a foothold in nephrotic syndrome. Nat Genet 2000 2.68
6 The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 1990 2.26
7 Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet 2000 2.24
8 Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 1995 1.86
9 Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 1998 1.85
10 Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 1993 1.77
11 Nerve growth cones isolated from fetal rat brain: subcellular fractionation and characterization. Cell 1983 1.62
12 Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. Clin Genet 2010 1.55
13 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet 2001 1.47
14 The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc Natl Acad Sci U S A 2000 1.36
15 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 2005 1.32
16 Vascular expression of polycystin-2. J Am Soc Nephrol 2001 1.28
17 Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J Am Soc Nephrol 1999 1.26
18 Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. Am J Hum Genet 2000 1.24
19 Molecular genetics and mechanism of autosomal dominant polycystic kidney disease. Mol Genet Metab 2000 1.17
20 The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 1992 1.12
21 Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet 1994 1.11
22 In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. J Biol Chem 2000 1.08
23 Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. Genomics 1998 1.04
24 A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997 1.04
25 Polycystin-2 expression is developmentally regulated. Am J Physiol 1999 1.02
26 CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. Proc Natl Acad Sci U S A 1991 1.01
27 An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region. Genomics 1997 0.91
28 A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol 1998 0.90
29 A positional cloning approach to inherited renal disease. Semin Nephrol 1992 0.88
30 Signal transduction. Mating, channels and kidney cysts. Nature 1999 0.88
31 Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. Genomics 1998 0.85
32 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 2000 0.85
33 The rat pkd2 protein assumes distinct subcellular distributions in different organs. Am J Physiol 1999 0.85
34 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 1999 0.84
35 Identification of two Fas-associated phosphatase-1 (FAP-1) promoters in human cancer cells. DNA Seq 2001 0.84
36 A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. Genomics 1999 0.84
37 Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 1997 0.83
38 Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1). Genomics 1992 0.83
39 A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int 1998 0.81
40 Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands. Nucleic Acids Res 1990 0.81
41 Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Hum Genet 1997 0.81
42 A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. Genomics 1993 0.80
43 A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). Hum Mol Genet 1997 0.79
44 Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2. Genomics 1997 0.77
45 Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. Am J Kidney Dis 1999 0.77
46 PCR, Southern blotting and oocyte expression to assess the efficacy of subtractive hybridization. Biotechniques 1996 0.75
47 Inherited diseases of the kidney. Curr Opin Nephrol Hypertens 1993 0.75
48 Cloning and characterization of the murine pkd2 promoter. Genomics 2000 0.75
49 Positional cloning approach to the dominant polycystic kidney disease gene, PKD1. Kidney Int Suppl 1993 0.75