Robert L Nussbaum

Summary

Affiliation: University of California

Country: USA

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome
Susan P Bothwell
Department of Medicine, University of California San Francisco School of Medicine, 513 Parnassus Avenue Hse901E, UCSF Box 0794, San Francisco, CA 94143, USA
Mamm Genome 21:458-66. 2010
Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin
Kirsten Neudoerffer Kangelaris
Division of General Internal Medicine, University of California, Box 0131, 533 Parnassus Ave, San Francisco, CA 94143 0131, USA
J Gen Intern Med 24:656-64. 2009
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy
Susan P Bothwell
University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
J Am Soc Nephrol 22:443-8. 2011
Dent Disease with mutations in OCRL1
Richard R Hoopes
Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
Am J Hum Genet 76:260-7. 2005

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome
Susan P Bothwell
Department of Medicine, University of California San Francisco School of Medicine, 513 Parnassus Avenue Hse901E, UCSF Box 0794, San Francisco, CA 94143, USA
Mamm Genome 21:458-66. 2010
....
Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin
Kirsten Neudoerffer Kangelaris
Division of General Internal Medicine, University of California, Box 0131, 533 Parnassus Ave, San Francisco, CA 94143 0131, USA
J Gen Intern Med 24:656-64. 2009
..Genotype-guided initial warfarin dosing may reduce over-anticoagulation and serious bleeding compared to a one-dose-fits-all dosing method...
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy
Susan P Bothwell
University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
J Am Soc Nephrol 22:443-8. 2011
..Thus, we created an animal model for OCRL and Dent Disease 2 tubulopathy by humanizing a modifier paralog in mice already carrying the mutant disease gene...
Dent Disease with mutations in OCRL1
Richard R Hoopes
Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
Am J Hum Genet 76:260-7. 2005
..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...

GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse
Robert L Nussbaum; Fiscal Year: 2010
..By understanding the disease process, we can identify points at which interventions could slow or stop its progression. ..