Dr Karen Johnstone

Dr Karen Johnstone

Lecturer in Genetics (Education)

Peninsula Medical School (Faculty of Health)


Senior Fellowship of the Higher Education Academy (SFHEA) 2017
Ph.D. Human genetics, University of London 1995
B.Sc. (Hons) Biochemistry, University of Edinburgh 1990

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

Key publications are highlighted

Schoenborn P, Osborne R, Toms N, Johnstone K, Milsom C, Muneer R, Jarvis MA & Belshaw R 2019 'OncoSim and OncoWiki: an authentic learning approach to teaching cancer genomics' BMC Medical Education 19, (1) , DOI
Rodriguez-Jato S, Shan J, Khadake J, Heggestad AD, Ma X, Johnstone KA, Resnick JL & Yang TP 2013 'Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain' PLoS One 8, (2) Author Site , DOI
DuBose AJ, Smith EY, Johnstone KA & Resnick JL 2012 'Temporal and developmental requirements for the Prader-Willi imprinting center' Proc Natl Acad Sci U S A 109, (9) 3446-3450 Author Site , DOI
Morrison F, Johnstone K, Murray A, Locke J & Harries LW 2012 'Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell lines' Exp Diabetes Res 2012, Author Site , DOI
Smith EY, Futtner CR, Chamberlain SJ, Johnstone KA & Resnick JL 2011 'Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus' PLoS Genet 7, (12) Author Site , DOI
Dubose AJ, Smith EY, Yang TP, Johnstone KA & Resnick JL 2011 'A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center' Hum Mol Genet 20, (17) 3461-3466 Author Site , DOI
Morrison FS, Johnstone KA & Harries LW 2011 'Physiological effects of Type 2 diabetes on mRNA processing and gene expression' Expert Review of Endocrinology & Metabolism 6, (2) 255-267 , DOI
Johnstone KA, Diakogiannaki E, Dhayal S, Morgan NG & Harries LW 2011 'Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid' JOP 12, (1) 6-10 Author Site
Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I & Murphy R 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
DuBose AJ, Johnstone KA, Smith EY, Hallett RAE & Resnick JL 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 Author Site , DOI
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Angel Maestro M, Alshaikh A, Bundak R & del Castillo G 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 Author Site , DOI
Relkovic D, Doe CM, Humby T, Johnstone KA, Resnick JL, Holland AJ, Hagan JJ, Wilkinson LS & Isles AR 2010 'Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome' Eur J Neurosci 31, (1) 156-164 Author Site , DOI
Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L & van't Hoff W 2009 'HNF1B mutations associate with hypomagnesemia and renal magnesium wasting' J Am Soc Nephrol 20, (5) 1123-1131 Author Site , DOI
Bockenhauer D, Adalat S, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L & van't Hoff W 2009 'Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting' PEDIATRIC NEPHROLOGY 24, (4) 885-885 Author Site
Peery EG, Elmore MD, Resnick JL, Brannan CI & Johnstone KA 2007 'A targeted deletion upstream of Snrpn does not result in an imprinting defect' Mamm Genome 18, (4) 255-262 Author Site , DOI
Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI & Resnick JL 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 Author Site , DOI
Chamberlain SJ, Johnstone KA, DuBose AJ, Simon TA, Bartolomei MS, Resnick JL & Brannan CI 2004 'Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice' Hum Mol Genet 13, (23) 2971-2977 Author Site , DOI
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW & Swanson MS 2003 'A muscleblind knockout model for myotonic dystrophy' SCIENCE 302, (5652) 1978-1980 Author Site , DOI
Smith AJH, Xian J, Richardson M, Johnstone KA & Rabbitts PH 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 Author Site , DOI
Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J & Baldini A 1996 'Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome' Am J Hum Genet 59, (1) 23-31 Author Site
Hoyle J, Yulug IG, Johnstone K, Scambler PJ & Fisher EM 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 Author Site , DOI
McKie J, Johnstone K, Mattei MG & Scambler P 1995 'Cloning and mapping of murine Nfe2l1' Genomics 25, (3) 716-719 Author Site , DOI
Conference Papers
Edwards J, Elbeltagi A, Parkes I, Ridha M & Johnstone K 2018 'Medical student authored microbiology learning resources' Microbiology Society Birmingham, UK 4-/-0/2018 4-/-0/2018
Futtner CR, Johnstone KA, Brannan CI & Resnick JL 2005 'A transgenic approach to understanding imprinting regulation in the PWS locus' 1-/-0/1900 1-/-0/1900 602-602
Johnstone K, DuBose A, Futtner C, Resnick J & Brannan C 2005 'Conserved and diverged functions of a human Prader-Willi syndrome imprinting center (PWS-IC) in mouse' 1-/-0/1900 1-/-0/1900 101-102
Johnstone KA, Elmore M & Brannan CI 2002 'Species specificity of the Prader-Willi syndrome imprinting center' 1-/-0/1900 1-/-0/1900 492-492