User profiles for Elizabeth M Simpson

Elizabeth M. Simpson

Professor of Medical Genetics, Univeristy of British Columbia
Verified email at cmmt.ubc.ca
Cited by 11390

Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice

EM Simpson, CC Linder, EE Sargent, MT Davisson…�- Nature�…, 1997 - nature.com
Targeted mutagenesis in mice, a powerful tool for the analysis of gene function and human
disease, makes extensive use of 129 mouse substrains. Although all are named 129, we …

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

…, J Bauer, L Gaugler, JM O'Brien, EM Simpson…�- Nature, 2009 - nature.com
BRAF and NRAS are common targets for somatic mutations in benign and malignant
neoplasms that arise from melanocytes situated in epithelial structures, and lead to constitutive …

Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese

S Enerb�ck, A Jacobsson, EM Simpson, C Guerra…�- Nature, 1997 - nature.com
The mitochondrial uncoupling protein (UCP) in the mitochondrial inner membrane of mammalian
brown adipose tissue generates heat by uncoupling oxidative phosphorylation 1 . This …

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease

…, YZ Yang, XJ Li, EM Simpson…�- Human molecular�…, 2003 - academic.oup.com
An expanded CAG repeat is the underlying genetic defect in Huntington disease, a disorder
characterized by motor, psychiatric and cognitive deficits and striatal atrophy associated with …

The sex-determining region of the human Y chromosome encodes a finger protein

DC Page, R Mosher, EM Simpson, EMC Fisher…�- cell, 1987 - cell.com
The presence or absence of the Y chromosome determines whether a mammalian embryo
develops as a male or female. In humans, genetic deletion analysis of "sex-reversed" …

[HTML][HTML] B7-1 and B7-2 have overlapping, critical roles in immunoglobulin class switching and germinal center formation

…, EA Tivol, D Jacoby, TB Strom, EM Simpson…�- Immunity, 1997 - cell.com
Humoral immune responses were characterized in mouse strains lacking either or both B7
molecules. Mice deficient in both B7-1 and B7-2 failed to generate antigen-specific IgG1 and …

[HTML][HTML] Mutant mice and neuroscience: recommendations concerning genetic background

AJ Silva, EM Simpson, JS Takahashi, HP Lipp…�- Neuron, 1997 - cell.com
1997). In addition, recent analysis revealed that some description of the genetic background
of the animals commonly used ES cell lines are polymorphic at a numstudied. This …

[HTML][HTML] The mammalian gene function resource: the International Knockout Mouse Consortium

…, C Seisenberger, M Selloum, EM Simpson…�- Mammalian�…, 2012 - Springer
In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious promise
to generate mutations in virtually every protein-coding gene of the mouse genome in a …

Impaired fertility in mice deficient for the testicular germ-cell protease PC4

…, C Gagnon, EM Simpson�- Proceedings of the�…, 1997 - National Acad Sciences
PC4 is a member of the proprotein convertase family of serine proteases implicated in the
processing of a variety of polypeptides including prohormones, proneuropeptides, and cell …

[HTML][HTML] rAAV-compatible MiniPromoters for restricted expression in the brain and eye

…, D Goldowitz, WW Wasserman, EM Simpson�- Molecular brain, 2016 - Springer
Background Small promoters that recapitulate endogenous gene expression patterns are
important for basic, preclinical, and now clinical research. Recently, there has been a …