University of Iowa Hospital and Clinics
Professor
Department of Pediatrics
Medical/Graduate School
University of Chicago-Pritzker
Residency
University of California-San Francisco
Fellowship
University of California-San Francisco, Medical Genetics
Clinical Interests
Hereditary blindness, Bardet-Biedl syndrome, congenital
heart disease.
Research Interests
Interests are in identifying genes which cause human genetic diseases. Specifically hereditary eye diseases including glaucoma, macular dystrophies, and retinis pigmentosa. Also include congenital heart defects and deafness. Involved in the Human Geno*.
Recent Publications
- Nachury MV, AV Loktev, Q Zhang, CJ Westlake, J Peranen, A Merdes, DC Slusarski, RH Scheller, JF Bazan, VC Sheffield, PK Jackson A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007 129 (6):1201-13.
- Chiang, AP, JS Beck, H-J Yen, MK Tayeh, TE Scheetz, RE Swiderski, DY Nishimura., TA Braun, KYA Kim, J Huang, K Elbedour, R Carmi, DC Slusarski, TL Casavant, EM Stone, VC Sheffield (2006) Homozygosity mapping with SNP arrays identifies TRIM32 an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci USA 103:6287-6292.
- Davis, RE, RE Swiderski, K Rahmouni, DY Nishimura, RR Mullins, K Agassandian, AR Philp, CC Searby, MP Andrews, S Thompson, CJ Berry, DR Thedens, BY Yang, RM Weiss, MD Cassell, EM Stone, VC Sheffield. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Nat. Acad Sci U S A 104(49):19422-27.
- Yen, HJ, MK Tayeh, RF Mullins, EM Stone, VC Sheffield, DC Slusarski (2006) Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 15(5):667-677.
- Rahmouni, K, MA Fath, S Seo, DR Thedens, CJ Berry, R Weiss, DY Nishimura, V.C. Sheffield (2008) Pathophysiological role of leptin in Bardet-Biedl syndrome: Evidence from knockout mouse models. J. Clin. Invest. In press.
E-mail: val-sheffield@uiowa.edu
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