J J Bissler

Summary

Affiliation: Children's Hospital Medical Center
Country: USA

Publications

  1. ncbi request reprint DNA inverted repeats and human disease
    J J Bissler
    The Children s Hospital Research Foundation, Cincinnati, Ohio 45229 3039, USA
    Front Biosci 3:d408-18. 1998
  2. pmc C1 inhibitor gene sequence facilitates frameshift mutations
    J J Bissler
    The Children s Hospital Research Foundation, Cincinnati, Ohio, USA
    Mol Med 4:795-806. 1998
  3. ncbi request reprint Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle
    John J Bissler
    Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA
    Lab Invest 82:335-44. 2002
  4. ncbi request reprint Reduction of postembolization syndrome after ablation of renal angiomyolipoma
    John J Bissler
    Division of Nephrology and Department of Radiology, Children s Hospital Medical Center, Cincinnati, OH, USA
    Am J Kidney Dis 39:966-71. 2002
  5. ncbi request reprint The promoter of the C1 inhibitor gene contains a polypurine.polypyrimidine segment that enhances transcriptional activity
    K Zahedi
    Division of Nephrology, Children s Hospital Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, OH 45229, USA
    J Immunol 162:7249-55. 1999
  6. ncbi request reprint Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex
    Jarrod M Williams
    Division of Radiology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA
    Am J Kidney Dis 47:95-102. 2006
  7. pmc Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein
    R Zahedi
    Children s Hospital Research Foundation, Department of Pediatrics, University of Cincinnati, Ohio 45229
    J Clin Invest 95:1299-305. 1995
  8. doi request reprint Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?
    Brian J Siroky
    Division of Nephrology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Nat Clin Pract Nephrol 5:143-56. 2009
  9. pmc Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    John J Bissler
    Division of Nephrology and Hypertension, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    N Engl J Med 358:140-51. 2008
  10. ncbi request reprint Tuberous sclerosis complex: renal imaging findings
    Keith A Casper
    Department of Radiology, Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229 3039, USA
    Radiology 225:451-6. 2002

Collaborators

Detail Information

Publications15

  1. ncbi request reprint DNA inverted repeats and human disease
    J J Bissler
    The Children s Hospital Research Foundation, Cincinnati, Ohio 45229 3039, USA
    Front Biosci 3:d408-18. 1998
    ..Such mechanisms can involve imperfect inverted repeats and lead to additional mutations. Several human genetic diseases illustrate inverted repeat mediated mutagenesis...
  2. pmc C1 inhibitor gene sequence facilitates frameshift mutations
    J J Bissler
    The Children s Hospital Research Foundation, Cincinnati, Ohio, USA
    Mol Med 4:795-806. 1998
    ..Models explaining the slippage can be drawn using the lagging strand of the replication fork. In this model, the formation of a stem-loop structure is responsible for bringing the end of the deletion or duplication into close proximity...
  3. ncbi request reprint Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle
    John J Bissler
    Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA
    Lab Invest 82:335-44. 2002
    ..5 mutations. Electron microscopy of promptly fixed myocardial biopsy specimens has a role in defining the differential diagnosis of DCM. Mutational analysis of the G4.5 gene also serves this purpose...
  4. ncbi request reprint Reduction of postembolization syndrome after ablation of renal angiomyolipoma
    John J Bissler
    Division of Nephrology and Department of Radiology, Children s Hospital Medical Center, Cincinnati, OH, USA
    Am J Kidney Dis 39:966-71. 2002
    ..The use of a short-term tapering dose of prednisone appeared to reduce PES compared with the reported literature and improved patient comfort...
  5. ncbi request reprint The promoter of the C1 inhibitor gene contains a polypurine.polypyrimidine segment that enhances transcriptional activity
    K Zahedi
    Division of Nephrology, Children s Hospital Research Foundation, Department of Pediatrics, University of Cincinnati College of Medicine, OH 45229, USA
    J Immunol 162:7249-55. 1999
    ..Similarly, site-directed mutations that disrupt this site reduce promoter activity by 70%...
  6. ncbi request reprint Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex
    Jarrod M Williams
    Division of Radiology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA
    Am J Kidney Dis 47:95-102. 2006
    ..Our study examines the efficacy of selective embolization in decreasing tumor burden, preventing hemorrhage, and preserving renal function...
  7. pmc Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein
    R Zahedi
    Children s Hospital Research Foundation, Department of Pediatrics, University of Cincinnati, Ohio 45229
    J Clin Invest 95:1299-305. 1995
    ..The Ala443-->Val mutation therefore converts C1 inhibitor from a substrate to an inhibitor of trypsin. These studies emphasize the role of the P2 residue in the determination of target protease specificity...
  8. doi request reprint Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?
    Brian J Siroky
    Division of Nephrology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
    Nat Clin Pract Nephrol 5:143-56. 2009
    ..This Review summarizes the pathophysiologic and therapeutic overlap between tuberous sclerosis complex and von Hippel-Lindau disease and highlights the results of recent drug trials in these settings...
  9. pmc Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    John J Bissler
    Division of Nephrology and Hypertension, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    N Engl J Med 358:140-51. 2008
    ..The drug sirolimus suppresses mTOR signaling...
  10. ncbi request reprint Tuberous sclerosis complex: renal imaging findings
    Keith A Casper
    Department of Radiology, Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229 3039, USA
    Radiology 225:451-6. 2002
    ..To review the renal imaging findings and changes over time in a large series of young patients with tuberous sclerosis complex (TSC)...
  11. ncbi request reprint Hematuria in children
    H P Patel
    Division of Nephrology and Hypertension, Children's Hospital Medical Center, Cincinnati, Ohio, USA
    Pediatr Clin North Am 48:1519-37. 2001
    ....
  12. doi request reprint Tuberous sclerosis complex: neurological, renal and pulmonary manifestations
    D N Franz
    Department of Pediatrics, University of Cincinnati College of Medicine, Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Neuropediatrics 41:199-208. 2010
    ..The use of mTOR inhibitors such as rapamycin and everolimus is discussed and recent clinical trials of these drugs in TSC are reviewed...
  13. ncbi request reprint Frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis
    Bradley L Fricke
    Department of Radiology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229 3039, USA
    AJR Am J Roentgenol 182:1027-30. 2004
    ..This study evaluates the frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis...
  14. ncbi request reprint Renal angiomyolipomata
    John J Bissler
    Division of Nephrology and Hypertension, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Kidney Int 66:924-34. 2004
    ..The purpose of this article is to update the nephrologist on the molecular understanding of renal angiomyolipomata and for the possibilities of pharmacologic therapy in the future...
  15. pmc PKD1 intron 21: triplex DNA formation and effect on replication
    Hiren P Patel
    Division of Nephrology and Hypertension, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229 3039, USA
    Nucleic Acids Res 32:1460-8. 2004
    ..During DNA replication, the G-rich template of the PKD1 Pu.Py tracts may form a triplex structure with the nascent strand, thereby blocking replication and potentially leading to recombination and mutation...