Genomes and Genes
Affiliation: University of Denver
- Molecular genetic analysis of Down syndromeDavid Patterson
Eleanor Roosevelt Institute, University of Denver, 2101 E Wesley Avenue, Denver, CO 80208 6600, USA
Hum Genet 126:195-214. 2009..These mouse models allow experimental approaches, including attempts at therapy, that are not possible in humans. Progress in understanding the genetic mechanisms by which trisomy of HSA21 leads to DS is the subject of this review...
- Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated agingDavid Patterson
Eleanor Roosevelt Institute, University of Denver, Denver, CO, USA
Mech Ageing Dev 133:133-7. 2012..As such, Down syndrome may provide a model for elucidating some of the basic mechanisms of aging...
- A humanized mouse model for the reduced folate carrierDavid Patterson
Eleanor Roosevelt Institute, Department of Biological Sciences, University of Denver, 1899 Gaylord Street, Denver, CO 80206, USA
Mol Genet Metab 93:95-103. 2008....
- Down syndrome and genetics - a case of linked historiesDavid Patterson
Eleanor Roosevelt Institute, Department of Biological Sciences, University of Denver, Colorado 80206, USA
Nat Rev Genet 6:137-47. 2005
- Genetic mechanisms involved in the phenotype of Down syndromeDavid Patterson
Eleanor Roosevelt Institute, University of Denver, Denver, Colorado 80206, USA
Ment Retard Dev Disabil Res Rev 13:199-206. 2007..In this manuscript, we describe current knowledge about these genetic complexities and their likely importance in the context of DS. We identify gaps in current knowledge and suggest priorities to fill these gaps...
- Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutationsStephen P Ray
Department of Physics and Astronomy, University of Denver, Denver, CO, USA
Biochim Biophys Acta 1834:1545-53. 2013....
- The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndromeChristine Butler
The Eleanor Roosevelt Institute at the University of Denver, CO 80206, USA
Behav Genet 36:429-38. 2006..They can also be used to develop therapies that target abnormalities in 1C-TS metabolism to improve cognition in persons with DS...
- Folate metabolism and the risk of Down syndromeDavid Patterson
Eleanor Roosevelt Institute and Departemnt of Biological Sciences, University of Denver, Colorado, USA
Downs Syndr Res Pract 12:93-7. 2008..This article reviews these challenging findings and looks at where investigations can now go to resolve these issues...
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disordersNathan Duval
Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, Denver, CO 80208, USA
Mol Genet Metab 108:178-89. 2013....
- Overexpression of amyloid-β protein precursor induces mitochondrial oxidative stress and activates the intrinsic apoptotic cascadeMatthew G Bartley
Department of Biological Sciences and the Eleanor Roosevelt Institute, University of Denver, Denver, CO, USA
J Alzheimers Dis 28:855-68. 2012..These data indicate that overexpression of WT AβPP is sufficient to induce MOS and intrinsic apoptosis, suggesting a novel pro-oxidant role for AβPP at mitochondria which may be relevant in AD and DS disease pathologies...
- A tribute to Dr. Theodore T. Puck (September 24, 1916-November 6, 2005)Philip I Marcus
Department of Molecular and Cell Biology, University of Connecticut, Storrs, Connecticut 06269, USA
In Vitro Cell Dev Biol Anim 42:235-41. 2006..In tribute to Dr. Puck, In Vitro Cellular and Developmental Biology-Animal presents invited remembrances from four colleagues whose associations with Dr. Puck spanned 51 years...
- Down's syndromeNancy J Roizen
Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY 13210, USA
Lancet 361:1281-9. 2003..Approaches and outcomes differ throughout the world...
- Uncontrolled manifold analysis of single trials during multi-finger force production by persons with and without Down syndromeJohn P Scholz
Department of Physical Therapy and Biomechanics and Movement Science Program, University of Delaware, Newark, DE 19716, USA
Exp Brain Res 153:45-58. 2003..We conclude that the single-trial method of UCM analysis allows the analysis of hypotheses about stabilization of different performance variables by alleged multi-finger synergies in both typical individuals and individuals with DS...
- Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cellsJingwei Yu
Department of Laboratory Medicine, University of California, San Francisco, 185 Berry Street, Suite 290, San Francisco, CA 94107, USA
Gene Expr 14:173-82. 2008..The findings are consistent with a role for an additional copy of BTG3 in the reduced incidence of breast cancer in individuals with Down syndrome...
- Toward a research agenda for Down syndromeIra T Lott
Department of Pediatrics, Neurology and Neurobiology, University of California, Irvine, University of California Medical Center, Orange, California, USA
Ment Retard Dev Disabil Res Rev 13:288-9. 2007
- Finger coordination in persons with Down syndrome: atypical patterns of coordination and the effects of practiceMark L Latash
Department of Kinesiology, Rec Hall 267, Pennsylvania State University, University Park 16802, USA
Exp Brain Res 146:345-55. 2002..Practice is an effective way of improving finger coordination in DS, particularly when using variable tasks...
- AUTISM AND AMPS LYASE MUTATIONS: CELL AND MOUSE MODELSDavid Patterson; Fiscal Year: 2007..We will then attempt to intervene with appropriate pharmacological agents to reverse the effects of ADSL deficiency, and, we hope, to other forms of autism. ..
- SOMATIC CELL GENETIC STUDIES OF DOWN SYNDROMEDavid Patterson; Fiscal Year: 2002..Their success will add greatly to our understanding of neurological development in general and of mental retardation in Down syndrome in particular. ..
- SOMATIC CELL GENETIC ANALYSIS OF PURINE SYNTHESISDavid Patterson; Fiscal Year: 2001....
- Proteomics for Testing Hypotheses about Down SyndromeDavid Patterson; Fiscal Year: 2007..Understanding of the alterations in protein levels in the Ts65Dn mouse model of DS should lead to new approaches of ameliorate the cognitive and behavioral aspects of DS. ..