Vicente Torres

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Volume progression in polycystic kidney disease
    Jared J Grantham
    Kidney Institute and the Department of Internal Medicine, Kansas University Medical Center, Kansas City, KS 66160, USA
    N Engl J Med 354:2122-30. 2006
  2. pmc Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Nephrol Dial Transplant 24:526-34. 2009
  3. ncbi request reprint Experimental therapies and ongoing clinical trials to slow down progression of ADPKD
    Maria V Irazabal
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester MN 55905, USA
    Curr Hypertens Rev 9:44-59. 2013
  4. pmc Tolvaptan in patients with autosomal dominant polycystic kidney disease
    Vicente E Torres
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    N Engl J Med 367:2407-18. 2012
  5. pmc Insignificant effect of secretin in rodent models of polycystic kidney and liver disease
    Xiaofang Wang
    Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Am J Physiol Renal Physiol 303:F1089-98. 2012
  6. pmc Analysis of baseline parameters in the HALT polycystic kidney disease trials
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, Minnesota 55901, USA
    Kidney Int 81:577-85. 2012
  7. doi request reprint Polycystic kidney disease in 2011: Connecting the dots toward a polycystic kidney disease therapy
    Vicente E Torres
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Nat Rev Nephrol 8:66-8. 2012
  8. ncbi request reprint Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55901, USA
    Clin J Am Soc Nephrol 2:112-20. 2007
  9. ncbi request reprint Autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Lancet 369:1287-301. 2007
  10. ncbi request reprint Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities
    V E Torres
    Division of Nephrology and Hypertension, Mayo College of Medicine, Rochester, MN 55905, USA
    J Intern Med 261:17-31. 2007

Research Grants

Detail Information

Publications89

  1. ncbi request reprint Volume progression in polycystic kidney disease
    Jared J Grantham
    Kidney Institute and the Department of Internal Medicine, Kansas University Medical Center, Kansas City, KS 66160, USA
    N Engl J Med 354:2122-30. 2006
    ..Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive enlargement of cyst-filled kidneys...
  2. pmc Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Nephrol Dial Transplant 24:526-34. 2009
    ..By both mechanisms, CaR activation could lower intracellular cAMP and inhibit renal cyst growth...
  3. ncbi request reprint Experimental therapies and ongoing clinical trials to slow down progression of ADPKD
    Maria V Irazabal
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester MN 55905, USA
    Curr Hypertens Rev 9:44-59. 2013
    ..Several interventions affecting many of the signaling pathways disrupted in ADPKD have been effective in animal models and some are currently being tested in clinical trials. ..
  4. pmc Tolvaptan in patients with autosomal dominant polycystic kidney disease
    Vicente E Torres
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    N Engl J Med 367:2407-18. 2012
    ..Preclinical studies indicated that vasopressin V(2)-receptor antagonists inhibit cyst growth and slow the decline of kidney function...
  5. pmc Insignificant effect of secretin in rodent models of polycystic kidney and liver disease
    Xiaofang Wang
    Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Am J Physiol Renal Physiol 303:F1089-98. 2012
    ..Therefore, it is unlikely that by itself secretin plays a significant role in the pathogenesis of PKD and/or PLD...
  6. pmc Analysis of baseline parameters in the HALT polycystic kidney disease trials
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, Minnesota 55901, USA
    Kidney Int 81:577-85. 2012
    ....
  7. doi request reprint Polycystic kidney disease in 2011: Connecting the dots toward a polycystic kidney disease therapy
    Vicente E Torres
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Nat Rev Nephrol 8:66-8. 2012
    ..Studies published in the past year have demonstrated a functional interaction between the main proteins implicated in these diseases and identified novel therapeutic approaches...
  8. ncbi request reprint Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55901, USA
    Clin J Am Soc Nephrol 2:112-20. 2007
    ..TKV and RBF were independent predictors of GFR decline (functional disease progression). In ADPKD, RBF reduction (1) parallels TKV increase, (2) precedes GFR decline, and (3) predicts structural and functional disease progression...
  9. ncbi request reprint Autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Lancet 369:1287-301. 2007
    ....
  10. ncbi request reprint Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities
    V E Torres
    Division of Nephrology and Hypertension, Mayo College of Medicine, Rochester, MN 55905, USA
    J Intern Med 261:17-31. 2007
    ..This review summarizes the rationale for these treatments, the results of preclinical trials and the prospects for clinical trials, some already in early phases of implementation...
  11. doi request reprint Treatment strategies and clinical trial design in ADPKD
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Adv Chronic Kidney Dis 17:190-204. 2010
    ..Efforts are underway to determine whether interventions capable to slow down, stop, or reverse structural progression of the disease will also prevent decline of renal function and improve clinically significant outcomes...
  12. ncbi request reprint Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases
    Vicente E Torres
    Mayo Clinic College of Medicine, Eisenberg S33B, Nephrology, 200 First St SW, Rochester, MN 55905, USA
    Nat Clin Pract Nephrol 2:40-55; quiz 55. 2006
    ..Some of these have proven effective in preclinical studies, and clinical trials have begun...
  13. ncbi request reprint Vasopressin antagonists in polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Kidney Int 68:2405-18. 2005
  14. ncbi request reprint Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats
    Vicente E Torres
    Mayo Foundation, Rochester, Minnesota, USA
    Kidney Int 66:1766-73. 2004
    ....
  15. ncbi request reprint Update on autosomal dominant polycystic kidney disease
    V E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Minerva Med 98:669-91. 2007
    ..Increased understanding of the progression of the disease and of its underlying genetic, molecular and cellular mechanisms have laid the foundations for the development of potentially effective therapies and clinical trials...
  16. doi request reprint Role of vasopressin antagonists
    Vicente E Torres
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Clin J Am Soc Nephrol 3:1212-8. 2008
    ....
  17. pmc Vasopressin antagonists in polycystic kidney disease
    Vicente E Torres
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Semin Nephrol 28:306-17. 2008
    ....
  18. doi request reprint A case for water in the treatment of polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Clin J Am Soc Nephrol 4:1140-50. 2009
    ..Potential pitfalls of increasing fluid intake in ADPKD patients are considered, and suggestions for how physicians may prudently implement this therapy are offered...
  19. pmc Autosomal dominant polycystic kidney disease: the last 3 years
    Vicente E Torres
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 76:149-68. 2009
    ..The purpose of this review is to update the core of knowledge in this area with recent publications that have appeared during 2006-2009...
  20. pmc Vasopressin in chronic kidney disease: an elephant in the room?
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Kidney Int 76:925-8. 2009
    ....
  21. doi request reprint Prospects for mTOR inhibitor use in patients with polycystic kidney disease and hamartomatous diseases
    Vicente E Torres
    Division of Nephrology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA
    Clin J Am Soc Nephrol 5:1312-29. 2010
    ..If effective, lower dosages than those used to prevent rejection would minimize side effects. Combination therapy with other effective drugs could improve tolerability and results...
  22. pmc Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease
    Vicente E Torres
    Mayo Clinic College of Medicine, Rochester, Minnesota, MN, USA
    Clin J Am Soc Nephrol 6:640-7. 2011
    ..The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) was created to identify markers of disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD)...
  23. pmc Rationale and design of the TEMPO (Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and its Outcomes) 3-4 Study
    Vicente E Torres
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Am J Kidney Dis 57:692-9. 2011
    ..We report baseline characteristics and revised power calculations for the trial...
  24. ncbi request reprint Therapies to slow polycystic kidney disease
    Vicente E Torres
    Division of Nephrology, Mayo College of Medicine, Rochester, Minn 55905, USA
    Nephron Exp Nephrol 98:e1-7. 2004
    ..The renal selectivity and safety profile of this class of drugs make it an excellent candidate for clinical trials...
  25. ncbi request reprint Inherited renal neoplasms
    V E Torres
    Division of Nephrology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    J Nephrol 11:229-38. 1998
    ..This review provides a discussion of these mechanisms as well as the diagnosis and management of the inherited renal neoplasms...
  26. ncbi request reprint Vascular expression of polycystin-2
    V E Torres
    Nephrology Research Unit, Division of Nephrology and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
    J Am Soc Nephrol 12:1-9. 2001
    ..These observations suggest a direct pathogenic role for PKD1 and PKD2 mutations in the vascular complications of ADPKD...
  27. ncbi request reprint Long-term ammonium chloride or sodium bicarbonate treatment in two models of polycystic kidney disease
    V E Torres
    Nephrology Research Unit and Division of Nephrology, Mayo Clinic, Rochester, Minn 55905, USA
    Exp Nephrol 9:171-80. 2001
    ....
  28. ncbi request reprint Autosomal dominant polycystic kidney disease
    V E Torres
    Division of Nephrology, Mayo Clinic, Rochester, MN, USA
    Nefrologia 23:14-22. 2003
  29. ncbi request reprint Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease
    Vicente E Torres
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Nat Med 10:363-4. 2004
    ....
  30. ncbi request reprint Renal concentration of alpha-tocopherol: dependence on gender and lack of effect on polycystic kidney disease in Han:SPRD rats
    V E Torres
    Department of Nephrology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
    Am J Kidney Dis 31:687-93. 1998
    ..Although these results do not support the use of vitamin E in the treatment of polycystic kidney disease, observations in the Han:SPRD rat may or may not be relevant to human polycystic kidney disease...
  31. ncbi request reprint Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat
    Xiaofang Wang
    Mayo Foundation, Rochester, Minnesota, USA
    J Am Soc Nephrol 16:846-51. 2005
    ....
  32. ncbi request reprint Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate
    Tatyana V Masyuk
    Center for Basic Research in Digestive Diseases, Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Gastroenterology 132:1104-16. 2007
    ....
  33. ncbi request reprint What the similarities of specific polycystic liver and kidney diseases can teach us about both
    Marie C Hogan
    Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, Rochester, Minn, USA
    Nephrol News Issues 22:29-31. 2008
  34. pmc Hepato-renal pathology in pkd2ws25/- mice, an animal model of autosomal dominant polycystic kidney disease
    Angela Stroope
    Miles and Shirley Fiterman Center for Digestive Diseases, Mayo Clinic College of Medicine, 200 First Street, SW, Rochester, MN 55905, USA
    Am J Pathol 176:1282-91. 2010
    ..In conclusion, Pkd2ws25/- mice exhibit hepatorenal pathology resembling human autosomal dominant polycystic kidney disease and represent a useful model to study mechanisms of cystogenesis and to evaluate treatment options...
  35. ncbi request reprint Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:2703-10. 2003
    ..The localization of fibrocystin to cilia further strengthens that correlation and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction...
  36. ncbi request reprint The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1
    Denise Walker
    Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, MN, USA
    Am J Kidney Dis 41:90-4. 2003
    ..Previously, a glutamic acid to aspartic acid polymorphism at residue 298 (E/D298) of the endothelial nitric oxide synthase (eNOS) gene ENOS was associated with disease severity in males with ADPKD...
  37. ncbi request reprint [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype
    Sertac N Kip
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Circ Res 96:873-80. 2005
    ..This elevation can also be induced by reducing [Ca2+]i in wild-type VSMCs. The [Ca2+]i reduction and cAMP accumulation can cause an increase in both cellular proliferation and apoptosis, resembling Pkd mutant phenotype...
  38. pmc Biliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney disease
    Tatyana V Masyuk
    Mayo Medical School, Clinic and Foundation, 200 First St, SW, Rochester, MN 55905, USA
    Am J Pathol 165:1719-30. 2004
    ..Our results suggest that the PCK rat is a useful model for studies of biliary cystogenesis and treatment options of inherited cystic liver disease...
  39. ncbi request reprint Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    Magdalena Adeva
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Medicine (Baltimore) 85:1-21. 2006
    ..The current study indicates a broadened spectrum for the ARPKD phenotype and that later presenting cases with predominant liver disease should be considered part of ARPKD...
  40. ncbi request reprint Defects in cholangiocyte fibrocystin expression and ciliary structure in the PCK rat
    Tatyana V Masyuk
    Division of Gastroenterology and Hepatology, Mayo Medical School, Clinic and Foundation, 200 First Street SW, Rochester, MN 55905, USA
    Gastroenterology 125:1303-10. 2003
    ....
  41. ncbi request reprint Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
    Mark B Consugar
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Kidney Dis 45:77-87. 2005
    ..To improve the prospects for molecular diagnostics and to study the origin of some relatively common mutations, the authors have developed a strategy for improved ARPKD haplotyping...
  42. pmc Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease
    Marie C Hogan
    Division of Nephrology and Hypertension, Department of Biomedical STatistics and Informatics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 21:1052-61. 2010
    ..In summary, octreotide slowed the progressive increase in liver volume and total kidney volume, improved health perception among patients with PLD, and had an acceptable side effect profile...
  43. ncbi request reprint Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells
    Qi Qian
    Department of Medicine, Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:1875-80. 2003
    ....
  44. doi request reprint Percutaneous nephrolithotomy for large or multiple upper tract calculi and autosomal dominant polycystic kidney disease
    Eric C Umbreit
    Department of Urology, Mayo Medical School and Mayo Clinic, Rochester, Minnesota, USA
    J Urol 183:183-7. 2010
    ..We report our experience with percutaneous nephrolithotomy in patients with autosomal dominant polycystic kidney disease...
  45. pmc Sirolimus reduces polycystic liver volume in ADPKD patients
    Qi Qian
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 19:631-8. 2008
    ..In summary, treatment with sirolimus was associated with decreased polycystic liver volume, perhaps by preventing aberrant activation of mTOR in epithelial cells lining the cysts...
  46. pmc Polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota 55905, USA
    Annu Rev Med 60:321-37. 2009
    ..Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis...
  47. ncbi request reprint Increased occurrence of pericardial effusion in patients with autosomal dominant polycystic kidney disease
    Qi Qian
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Clin J Am Soc Nephrol 2:1223-7. 2007
    ..Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disease with prominent connective tissue manifestations. A frequent occurrence of asymptomatic pericardial effusion has been observed in patients with ADPKD...
  48. ncbi request reprint Retinal arterial and venous occlusions in patients with ADPKD
    Qi Qian
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Nephrol Dial Transplant 22:1769-71. 2007
  49. pmc Germline PKHD1 mutations are protective against colorectal cancer
    Christopher J Ward
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Genet 129:345-9. 2011
    ..0002). We also show that the carriage rate for PKHD1 mutations in the European population is higher than previous accepted at 3.2% (1:31 genomes)...
  50. pmc Vasopressin directly regulates cyst growth in polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 19:102-8. 2008
    ..These observations indicate that AVP is a powerful modulator of cystogenesis and provide further support for clinical trials of V2 receptor antagonists in PKD...
  51. ncbi request reprint Analysis of the polycystins in aortic vascular smooth muscle cells
    Qi Qian
    Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Soc Nephrol 14:2280-7. 2003
    ..These observations are consistent with an important role of the polycystins in the development, maintenance, and function of the myoelastic arterial organization and with the vascular phenotype associated with ADPKD...
  52. ncbi request reprint A complete mutation screen of the ADPKD genes by DHPLC
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 61:1588-99. 2002
    ..However, molecular diagnostics by direct mutation screening has proved difficult in this disorder due to genetic and allelic heterogeneity and complexity of the major locus, PKD1...
  53. ncbi request reprint Comparison of methods for determining renal function decline in early autosomal dominant polycystic kidney disease: the consortium of radiologic imaging studies of polycystic kidney disease cohort
    Andrew D Rule
    Division of Nephrology, Mayo Foundation, 200 First Street SW, Rochester, MN 55905, and University of Alabama, Birmingham, USA
    J Am Soc Nephrol 17:854-62. 2006
    ..Misclassification from changes in non-GFR factors (e.g., creatinine production, tubular secretion) conservatively biased associations with eGFR. Misclassification from method imprecision attenuated associations with creatinine clearance...
  54. ncbi request reprint Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapy
    Peter C Harris
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Curr Opin Nephrol Hypertens 15:456-63. 2006
    ..This review explores this pathogenesis and determines the role that this knowledge is playing in the development of potential therapies...
  55. ncbi request reprint EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD rats
    Vicente E Torres
    Division of Nephrology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 64:1573-9. 2003
    ....
  56. ncbi request reprint Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease
    Peter C Harris
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Am Soc Nephrol 17:3013-9. 2006
    ..These insights will inform the development of targeted therapies in autosomal dominant PKD...
  57. pmc Characterization of PKD protein-positive exosome-like vesicles
    Marie C Hogan
    Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    J Am Soc Nephrol 20:278-88. 2009
    ..These data suggest that PKD proteins are shed in membrane particles in the urine, and these particles interact with primary cilia...
  58. ncbi request reprint A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 64:391-403. 2003
    ..The ARPKD gene, PKHD1, has recently been identified. Herein we describe an effective method for PKHD1 mutation screening and the results from analysis of a novel ARPKD cohort...
  59. pmc Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
    Sandro Rossetti
    Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Kidney Int 75:848-55. 2009
    ..Our study indicates that the dosage of functional PKD1 protein may be critical for cyst initiation...
  60. pmc Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease
    Airong Li
    Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06519, USA
    Am J Hum Genet 72:691-703. 2003
    ..In light of the focal nature of liver cysts in ADPLD, the apparent loss-of-function mutations in PRKCSH, and the two-hit mechanism operational in dominant polycystic kidney disease, ADPLD may also occur by a two-hit mechanism...
  61. ncbi request reprint Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
    Mark B Consugar
    Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Hum Genet 121:591-9. 2007
    ..This study is consistent with further genetic heterogeneity of MKS, but underlines the value of molecular diagnostics of the known genes to aid family planning decisions...
  62. ncbi request reprint The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
    Sandro Rossetti
    Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Soc Nephrol 13:1230-7. 2002
    ..9% and 39.7%, respectively). This study has shown that the position of the PKD1 mutation is significantly associated with earlier ESRD and questions whether PKD1 mutations simply inactivate all products of the gene...
  63. pmc Cyclic nucleotide signaling in polycystic kidney disease
    Xiaofang Wang
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Kidney Int 77:129-40. 2010
    ..This may account, in part, for increased cyclic nucleotide signaling in polycystic kidney disease and contribute substantially to disease progression...
  64. pmc Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
    Rachaneekorn Tammachote
    Department of Biochemistry Molecular Biology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 18:3311-23. 2009
    ..MKS1 and MKS3 functions are required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication...
  65. ncbi request reprint Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, MN 55905, USA
    Lancet 361:2196-201. 2003
    ..Familial clustering of intracranial aneurysms suggests that genetic factors are important in the aetiology. We tested whether the germline mutation predisposes to this vascular phenotype...
  66. ncbi request reprint The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    Christopher J Ward
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
    Nat Genet 30:259-69. 2002
    ..Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation...
  67. ncbi request reprint Quantitative assessment of hepatic fibrosis in an animal model with magnetic resonance elastography
    Meng Yin
    Department of Radiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Magn Reson Med 58:346-53. 2007
    ..In conclusion, MRE has the potential not only for assessing liver stiffness, but also for monitoring potential therapies for hepatic fibrosis...
  68. ncbi request reprint Mutations in SEC63 cause autosomal dominant polycystic liver disease
    Sonia Davila
    Department of Internal Medicine, Yale University School of Medicine, P O Box 208029, 333 Cedar Street, New Haven, Connecticut 06520 8029, USA
    Nat Genet 36:575-7. 2004
    ..These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease...
  69. ncbi request reprint Clinical profile of autosomal dominant polycystic liver disease
    Qi Qian
    Division of Nephrology, Mayo Clinic, Rochester, MN, USA
    Hepatology 37:164-71. 2003
    ..In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management...
  70. pmc Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease
    Maria V Irazabal
    Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55901, USA
    Clin J Am Soc Nephrol 6:1274-85. 2011
    ..Autosomal dominant polycystic kidney disease (ADPKD) patients have an increased risk for intracranial aneurysms (IAs). The importance of screening for unruptured IAs (UIAs) depends on their risks for growth and rupture...
  71. pmc Polycystic liver disease: a critical appraisal of hepatic resection, cyst fenestration, and liver transplantation
    Thomas Schnelldorfer
    Division of Gastroenterologic and General Surgery, Mayo Clinic, Rochester, Minnesota 55905, USA
    Ann Surg 250:112-8. 2009
    ..To identify operative morbidity, mortality, and long-term outcome after operative treatment for symptomatic polycystic liver disease (PLD) and develop a treatment algorithm for patients with PLD...
  72. ncbi request reprint PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression
    Marie C Hogan
    Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 12:685-98. 2003
    ..Low level expression was detected in many primary immune cell subtypes but up-regulated specifically in T lymphocytes, following activation signals, suggesting a role in cellular immunity...
  73. pmc Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    Mark B Consugar
    Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Kidney Int 74:1468-79. 2008
    ..Our assay improves detection levels and the reliability of molecular testing of patients with ADPKD...
  74. ncbi request reprint Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis
    Nancy Xu
    Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Nephrol 19:529-34. 2006
    ....
  75. ncbi request reprint Inferior vena cava stenting: a safe and effective treatment for intractable ascites in patients with polycystic liver disease
    Jayleen Grams
    Department of Surgery, Mayo Clinic College of Medicine, 200 1st Street SW, Rochester, MN 55905, USA
    J Gastrointest Surg 11:985-90. 2007
    ..These results suggest inferior vena cava stenting is safe and effective and should be considered as a first-line intervention in the treatment of medically intractable ascites in select patients with polycystic liver disease...
  76. ncbi request reprint Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
    Sandro Rossetti
    Division of Nephrology, Mayo Clinic, Rochester, MN 55905, USA
    J Am Soc Nephrol 18:2143-60. 2007
    ..Although nondefinite mutation data must be treated with care in the clinical setting, this study shows the potential for molecular diagnostics in ADPKD that is likely to become increasingly important as therapies become available...
  77. ncbi request reprint Sonographic assessment of the severity and progression of autosomal dominant polycystic kidney disease: the Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP)
    W CHARLES O'NEILL
    Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA
    Am J Kidney Dis 46:1058-64. 2005
    ..The accuracy and precision of ultrasonography (US) in assessing the severity of autosomal dominant polycystic kidney disease (ADPKD) is unknown...
  78. ncbi request reprint The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    Ursula M Smith
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    Nat Genet 38:191-6. 2006
    ..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
  79. pmc Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference
    Meral Gunay-Aygun
    National Human Genome Research Institute, the Molecular Imaging Program, National Cancer Institute, The National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1851, USA
    J Pediatr 149:159-64. 2006
  80. ncbi request reprint Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist
    Vincent H Gattone
    Anatomy and Cell Biology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, Indiana 46202, USA
    Nat Med 9:1323-6. 2003
    ..These results indicate that OPC31260 may be an effective treatment for these disorders and that clinical trials should be considered...
  81. ncbi request reprint Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes
    Jared J Grantham
    Kansas University Medical Center, Kansas City, Kansas, USA
    Clin J Am Soc Nephrol 1:148-57. 2006
    ....
  82. ncbi request reprint Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort
    Arlene B Chapman
    Department of Medicine Renal Division, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Kidney Int 64:1035-45. 2003
    ....
  83. ncbi request reprint Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease
    Bernard F King
    Department of Medicine Renal Division, University of Alabama, Birmingham, Alabama, USA
    Kidney Int 64:2214-21. 2003
    ..Despite evidence for the importance of nephroangiosclerosis in the progression of renal insufficiency in ADPKD, evaluation of renal blood flow (RBF) as a surrogate marker of disease severity has received little attention...
  84. ncbi request reprint Treatment of polycystic liver disease: one size does not fit all
    Vicente E Torres
    Am J Kidney Dis 49:725-8. 2007
  85. ncbi request reprint Duodenal diverticulosis in autosomal dominant polycystic kidney disease
    Sumedha Kumar
    Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Nephrol Dial Transplant 21:3576-8. 2006
  86. ncbi request reprint Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease
    Gordon F Gibbs
    Department of Diagnostic Radiology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Kidney Int 65:1621-7. 2004
    ..The risk of growth and rupture of those discovered by presymptomatic screening is key to the feasibility and success of a screening program. This study was initiated to ascertain this risk...
  87. ncbi request reprint Water for ADPKD? Probably, yes
    Vicente E Torres
    J Am Soc Nephrol 17:2089-91. 2006
  88. ncbi request reprint Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort
    Kyongtae T Bae
    Department of Radiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Clin J Am Soc Nephrol 1:64-9. 2006
    ..Hepatic cysts are more prevalent and larger in total cyst volume in women than in men. Hepatic cyst prevalence and aggregate total hepatic cyst volume increased with age...
  89. ncbi request reprint Cerebral aneurysms
    Vicente E Torres
    N Engl J Med 355:2703-4; author reply 2705. 2006

Research Grants23

  1. Novel treatments for polycystic kidney disease
    Vicente Torres; Fiscal Year: 2009
    ..abstract_text> ..
  2. Controlled Trial of Renin Angiotensin Blockade in ADPKD
    Vicente Torres; Fiscal Year: 2007
    ..Approximately one-half of these patients will have normal or near-normal renal function and one-half have mild to moderate renal insufficiency. The protocols for the Pilot Study will be conducted only at the Mayo Clinic. ..
  3. Polycystic Kidney Disease: Innovative Imaging to Assess Progression (PCC)
    Vicente Torres; Fiscal Year: 2007
    ....
  4. Novel treatment for polycystic kidney disease
    Vicente E Torres; Fiscal Year: 2010
    ....
  5. RENIN ANGIOTENSIN SYSTEM IN THE PATHOGENESIS OF ADPKD
    Vicente Torres; Fiscal Year: 1993
    ..The results of these studies will augment the understanding of the pathogenesis of cyst formation and hypertension in ADPKD and are likely to have a significant impact on the treatment of this disease...
  6. KIDNEY DISEASE RESEARCH TRAINING PROGRAM
    Vicente Torres; Fiscal Year: 2007
    ..abstract_text> ..
  7. Novel treatments for polycystic kidney disease
    Vicente Torres; Fiscal Year: 2007
    ....
  8. REDOX, ACID/BASE, AND PATHOGENESIS OF ADPKD
    Vicente Torres; Fiscal Year: 2002
    ..The main thrust of the proposed studies is directed towards the identification of pathogenetic mechanisms than can be subject to preventive and therapeutic interventions. ..