Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Brittany L, Gregory"'
Autor:
Vivian G. Cheung, Brittany L. Gregory
Publikováno v:
Genome Research. 24:52-63
DNA sequence variants influence gene expression and cellular phenotypes. In this study, we focused on natural variation in the gene encoding the histone demethylase, KDM4C, which promotes transcriptional activation by removing the repressive histone
Publikováno v:
Journal of Veterinary Internal Medicine. 21:40-46
Autor:
Stephen J. O'Brien, John C. Fyfe, Marilyn Menotti-Raymond, William J. Murphy, William J. Wedemeyer, Bethany G. Buzzell, Brittany L. Gregory, Alejandro A. Schäffer, Brunhilde Wirth, Lars Brichta, Richa Agarwala, Victor A. David, Meghan C. Drummond
Publikováno v:
Genome Research. 16:1084-1090
The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SM
Publikováno v:
Journal of veterinary internal medicine. 21(1)
Inborn errors of metabolism impose a significant genetic burden on purebred dogs and cats. The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are neede
Autor:
Mette Madsen, Urs Giger, Henrik Vorum, Brittany L. Gregory, Peter Højrup, Adam Kilkenney, Søren K. Moestrup, Stephan M. Tanner, Qianchuan He, Albert de la Chapelle, Ewen F. Kirkness, Erik Ilsø Christensen, Alejandro A. Schäffer, John C. Fyfe
Publikováno v:
He, Q, Madsen, M, Kilkenney, A, Gregory, B, Christensen, E I, Vorum, H, Højrup, P, Schäffer, A A, Kirkness, E F, Tanner, S M, de la Chapelle, A, Giger, U, Moestrup, S K & Fyfe, J C 2005, ' Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo ', Blood, vol. 106, no. 4, pp. 1447-1453 . https://doi.org/10.1182/blood-2005-03-1197
Amnionless (AMN) and cubilin gene products appear to be essential functional subunits of an endocytic receptor called cubam. Mutation of either gene causes autosomal recessive Imerslund-Grasbeck syndrome (I-GS, OMIM no. 261100) in humans, a disorder
Autor:
Li-San Wang, Brittany L. Gregory, Shuzhang Yang, Hakon Hakonarson, Wade H. Berrettini, Kai Wang, Maja Bucan
Publikováno v:
PLoS ONE
PLoS ONE, Vol 4, Iss 2, p e4474 (2009)
PLoS ONE, Vol 4, Iss 2, p e4474 (2009)
Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and association studies, which require large sample sizes, analysis of common and rare chromosomal copy number variants (CNVs) in e