Bissler Lab

Liu G, Bissler JJ, Sinden RR, Leffak M. Replication-dependent instability at (CTG) x (CAG) repeat hairpins in human cells. Nat Chem Biol. 2010.

Siroky BJ, Yin H, Bissler JJ. Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatric Nephrol. 2010.

Mrug M, Bissler JJ. Simulation of real-time ultrasound-guided renal biopsy. Kidney Int. 2010.

Bissler JJ, Siroky BJ, Yin H. Glomerulocystic kidney disease. Pediatric Nephrol. 2010.

Johnson SR, and the Review Panel of the European Respiratory Society Lymphangio-leiomyomatosis Task Force. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir Journ.  35:14-26. 2010.

Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ. Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol. 5(3):143-56. 2009.

Schmithorst VJ, Altes TA, Young LR, Franz DN, Bissler JJ, McCormack FX, et al. Automated algorithm for quantifying the extent of cystic change on volumetric chest CT: initial results in Lymphangioleiomyomatosis. Am J Roentgenol. 192(4):1037-44. 2009.

Dixon BP, Chu A, Henry J, Kim R, Bissler JJ. Increased cancer risk of augmentation cystoplasty: Possible role for hyperosmolal microenvironment on DNA damage recognition. Mutat Res.  670:88-95. 2009.

Bissler JJ, Henske E. Chapter 15. Renal Manifestations of Tuberous Sclerosis Complex. In: Whittemore V, Henske EP, Kwiatkowski D, editors. Tuberous Sclerosis Complex: From Genes to Therapeutics. New York: Elisivier; 2009.

West CD, Bissler JJ. Nephritic factor and recurrence in the renal transplant of membranoproliferative glomerulonephritis type II. Pediatr Nephrol. 23(10):1867-76. 2008.

Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury  S, Franz DN. Sirolimus for angiomyolipomata in tuberous sclerosis or lymphangioleiomyomatosis. N Engl J Med. 358:140-51. 2008.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res. 2008.

Dixon BP, Lu L, Chu A, Bissler JJ. RecQ and RecG helicases have distinct roles in maintaining the stability of polypurine.polypyrimidine sequences. Mutat Res. 643(1-2):20-8. 2008.

Jiang X, Kenerson H, Aicher L, Bissler JJ, Yeung R. The tuberous sclerosis complex regulates trafficking of glucose transporters and glucose uptake. Am J Pathol. 172(6):1748-56. 2008.

Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics. 91(2):203-8. 2008.

Robison JG, Dixon K, Bissler JJ. Cell Cycle-and Proteasome-Dependent Formation of Etoposide-Induced Replication Protein A (RPA) or Mre11/Rad50/Nbs1 (MRN) Complex Repair Foci. Cell Cycle.  6:2399-407. 2007.

Robison JG, Bissler JJ, Dixon K. Replication protein A is required for etoposide-induced assembly of MRE11/RAD50/NBS1 complex repair foci. Cell Cycle. 6:2408-16. 2007.

Lui G, Bissler JJ, Sinden RR, Leffak M. Unstable spinocerebellar ataxia type 10 (ATTCT)*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. Mol Cell Biol. 27:7828-38. 2007.

Bissler JJ. Triplex DNA and human disease. Front Biosci. 12:4536-46. 2007.

Williams JM, Racadio JM, Johnson ND, Donnelly LF, Bissler JJ. Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex. Am J Kidney Dis. 47:95-102. 2006.

Robison JG, Lu L, Dixon K, Bissler JJ. DNA lesion-specific co-localization of the Mre11/Rad50/Nbs1 (MRN) complex and replication protein A (RPA) to repair foci. J Biol Chem. 280:12927-34. 2005.

Bissler JJ, Kingswood JC. Renal angiomyolipomata. Kidney Int. 66:924-34. 2004.

Patel HP, Lu L, Bissler JJ. PKD1 intron 21: triplex DNA formation and effect on replication. Nucleic Acids Res. 32:1460-8. 2004.

Hopkin R, Bissler JJ, Grabowski GA. Comparative Evaluation of a-Galactosidase A infusion for the Treatment of Fabry Disease. Genetics In Medicine. 5:144-53. 2003.

Potaman VN, Bissler JJ, Hashem VI, Oussatcheva EA, Lu L, Shlyakhtenko, LS, Lyubchenko, YL, Matsuura, T, Ashizawa, T, Leffak, M, Benham, CJ, Sinden, RR. Unpaired structures in SCA10 (ATTCT)_n•(AGAAT)_n repeats. J Mol Biol. 326:1095-111. 2003.

Rosenberg ME, Girton R, Finkel D, Chmielewski D, Barrie A 3rd, Witte DP, Zhu G, Bissler JJ, Harmony JAK, Aronow BJ. Apolipoprotein J/Clusterin prevents a progressive glomerulopathy of aging. Mol Cell Biol. 22:1893-902. 2002.

Bissler JJ, Racadio R, Donnelly LF, Johnson ND. Reduction of postembolization syndrome following ablation of renal angiomyolipoma. Am J Kidney Dis. 39:966-71. 2002.

Bissler JJ, Tsoras M, Hug P, Göring H, Chuck G, McGraw C, Schlotman J, Ralston MA, Hug G. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids and ultrastructural malformations mitochondria in heart, liver, and skeletal muscle. Lab Invest. 82:335-44. 2002.

Morales E, Polycarpou M, Hemasilpin N, Bissler JJ. Hierarchical Adaptive and Supervisory Control of Continuous Venovenous Hemofiltration, IEEE Transactions on Control Systems Technology. 9:445-457. 2001.

Potaman VN, Bissler JJ. Overcoming a barrier for DNA polymerization in triplex-forming sequences. Nucleic Acids Res. 27:e5. 1999.

Blaszak RT, Potaman VN, Sinden RR, Bissler JJ. DNA structural transitions within the PKD1 gene. Nucleic Acids Res. 27:2610-2617. 1999.

Bissler JJ, Meng QS, Emery T. C1 inhibitor gene sequence facilitates frameshift mutations. Mol. Med. 4:795-806. 1998.

Bissler JJ. DNA inverted repeats and human disease. Front Biosci. 4:408-418. 1998.

Bissler JJ, Aulak KS, Donaldson VH, Rosen FS, Cicardi M, Harrison RA, Davis AE 3rd. Molecular defects in hereditary angioneurotic edema. Proc Assoc Am Phys. 109:164-173. 1997.

Donaldson VH, Bissler JJ, Welch T, Burton M, Davis AE 3rd. Antibody to C1-inhibitor in a patient receiving C1-inhibitor infusions for treatment of hereditary angioneurotic edema with systemic lupus erythematosis reacts with a normal allotype of residue 458 of C1-inhibitor. J Lab Clin Med. 128:438-43. 1996.

Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ. Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. J Clin Invest.  95: 1299-305. 1995.

Bissler JJ, Cicardi M, Donaldson VH, Gatenby PA, Rosen FS, Sheffer AL, Davis AE 3rd. A cluster of mutations within a short triplet repeat in the C1 inhibitor gene. Proc Natl Acad Sci USA. 91: 9622-5. 1994.

Davis AE 3rd, Aulak KS, Zahedi K, Bissler JJ, Harrison RA. C1inhibitor. Methods Enzymol. 223: 97-120. 1993.

Davis AE 3rd, Aulak K, Parad RB, Stecklein HP, Eldering E, Hack CE, Kramer J, Strunk RC, Bissler JJ, Rosen FS. C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. Nat Genet.1: 354-8. 1992.