Robert D Nicholls
Affiliation: University of Pennsylvania
- Genome organization, function, and imprinting in Prader-Willi and Angelman syndromesR D Nicholls
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6140, USA
Annu Rev Genomics Hum Genet 2:153-75. 2001....
- 2002 Curt Stern Award address. Introductory speech for James R. LupskiRobert D Nicholls
Center for Neurobiology and Behavior, Departments of Psychiatry and Genetics, University of Pennsylvania, Philadelphia, PA 19104 6140, USA
Am J Hum Genet 72:244-5. 2003
- Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromesMihaela Stefan
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
BMC Genomics 6:157. 2005..In this study, we define the deletion endpoints and examine the impact on expression of flanking genes...
- A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levelsMihaela Stefan
Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania, 415 Curie Boulevard, Philadelphia, PA 19104 6140, USA
Genomics 85:630-40. 2005..Most surprisingly, since 48-60% of the genome was screened, it appears that the imprinted mouse PWS loci do not widely regulate mRNA levels of other genes and may regulate RNA structure...
- Possible genomic imprinting of three human obesity-related genetic lociChuanhui Dong
Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104 6140, USA
Am J Hum Genet 76:427-37. 2005..79; multipoint LOD of 3.72 for BMI) in region 13q32, in the European American sample. The results suggest that parent-of-origin effects, perhaps including genomic imprinting, may play a role in human obesity...
- What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity?Mihaela Stefan
Department of Psychiatry, University of Pennsylvania, Clinical Research Building, Room 528, 415 Curie Boulevard, Philadelphia, PA 19104 6140, USA
Curr Diab Rep 4:143-50. 2004..An understanding of the genetic basis for these syndromes will provide a more comprehensive picture of the mechanisms that control food intake and energy balance in humans...
- Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1Jun H Park
Department of Pediatrics, Children s Hospital of Philadelphia, Department of Medicine, and Institute for Diabetes, Obesity, and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Clin Invest 118:2316-24. 2008..These results provide insight into the development of type 2 diabetes following IUGR and we believe they are the first to describe the ontogeny of chromatin remodeling in vivo from the fetus to the onset of disease in adulthood...