- C415, Portland Square, Drake Circus, Plymouth, PL4 8AA
- +44 1752 586772
- karen.johnstone@plymouth.ac.uk
Profiles
Dr Karen Johnstone
Associate Professor of Genetics and Genomics (Education)
Peninsula Medical School (Faculty of Health)
Biography
Biography
Qualifications
Senior Fellowship of the Higher Education Academy (SFHEA) 2017
Ph.D. Human genetics, University of London 1995B.Sc. (Hons) Biochemistry, University of Edinburgh 1990
Key publications
(2012) 'Temporal and developmental requirements for the Prader-Willi imprinting center' Proc Natl Acad Sci U S A 109, (9) 3446-3450 , DOI
(2011) 'Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus' PLoS Genet 7, (12) , DOI
(2011) 'A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center' Hum Mol Genet 20, (17) 3461-3466 , DOI
(2006) 'A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects' Hum Mol Genet 15, (3) 393-404 , DOI
Teaching
Teaching
Teaching interests
Key teaching responsibilities on the BMBS (Bachelor of Medicine, Bachelor of Surgery) programme:
Genetics and genomics discipline lead
Academic tutor
International student tutor
Life Sciences year 1 academic coordinator
Publications
Publications
Key publications
(2012) 'Temporal and developmental requirements for the Prader-Willi imprinting center' Proc Natl Acad Sci U S A 109, (9) 3446-3450 , DOI
(2011) 'Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus' PLoS Genet 7, (12) , DOI
(2011) 'A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center' Hum Mol Genet 20, (17) 3461-3466 , DOI
(2006) 'A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects' Hum Mol Genet 15, (3) 393-404 , DOI
Key publications are highlighted
Journals
Articles
(2019) 'OncoSim and OncoWiki: an authentic learning approach to teaching cancer genomics' BMC Medical Education 19, (1) , DOI Open access
(2013) 'Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain' PLoS One 8, (2) , DOI
(2012) 'Temporal and developmental requirements for the Prader-Willi imprinting center' Proc Natl Acad Sci U S A 109, (9) 3446-3450 , DOI
(2012) 'Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell lines' Exp Diabetes Res 2012, , DOI
(2011) 'Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus' PLoS Genet 7, (12) , DOI
(2011) 'A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center' Hum Mol Genet 20, (17) 3461-3466 , DOI
(2011) 'Physiological effects of Type 2 diabetes on mRNA processing and gene expression' Expert Review of Endocrinology & Metabolism 6, (2) 255-267 , DOI
(2011) 'Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid' JOP 12, (1) 6-10
(2010) 'Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro' Diabetic Medicine 27, (6) 631-635
(2010) 'Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC' Neurogenetics 11, (2) 145-151 , DOI
(2010) 'Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis' PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 107, (7) 3105-3110 , DOI
(2010) 'Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome' Eur J Neurosci 31, (1) 156-164 , DOI
(2009) 'HNF1B mutations associate with hypomagnesemia and renal magnesium wasting' J Am Soc Nephrol 20, (5) 1123-1131 , DOI
(2009) 'Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting' PEDIATRIC NEPHROLOGY 24, (4) 885-885
(2007) 'A targeted deletion upstream of Snrpn does not result in an imprinting defect' Mamm Genome 18, (4) 255-262 , DOI
(2006) 'A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects' Hum Mol Genet 15, (3) 393-404 , DOI
(2004) 'Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice' Hum Mol Genet 13, (23) 2971-2977 , DOI
(2002) 'Cre-loxP chromosome engineering of a targeted deletion in the mouse corresponding to the 3p21.3 region of homozygous loss in human tumours' Oncogene 21, (29) 4521-4529 , DOI
(1996) 'Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome' Am J Hum Genet 59, (1) 23-31
(1996) 'Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome' Hum Genet 97, (1) 117-120 , DOI
Conference Papers
(2005) 'A transgenic approach to understanding imprinting regulation in the PWS locus' 602-602
(2005) 'Conserved and diverged functions of a human Prader-Willi syndrome imprinting center (PWS-IC) in mouse' 101-102
(2002) 'Species specificity of the Prader-Willi syndrome imprinting center' 492-492
Presentations and posters
'Medical student authored microbiology learning resources'