Robert L Nussbaum
Affiliation: University of California
- Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe SyndromeSusan 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 warfarinKirsten 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 tubulopathySusan 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 OCRL1Richard 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 MouseRobert L Nussbaum; Fiscal Year: 2010..By understanding the disease process, we can identify points at which interventions could slow or stop its progression. ..