- C415, Portland Square, Drake Circus, Plymouth, Devon, PL4 8AA
- +44 1752 586772
- karen.johnstone@plymouth.ac.uk
Profiles
Dr Karen Johnstone
Lecturer in Genetics
Peninsula Medical School (Plymouth University Peninsula Schools of Medicine and Dentistry)
Qualifications
Ph.D. Human genetics, University of London 1995
B.Sc. (Hons) Biochemistry, University of Edinburgh 1990
Key publications are highlighted
Journals
Articles
2013
'Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain'
PLoS One
8,
(2)
, DOI
2012
'Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell lines'
Exp Diabetes Res
2012,
, DOI
2012
'Temporal and developmental requirements for the Prader-Willi imprinting center'
Proc Natl Acad Sci U S A
109,
(9)
3446-3450
, 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
'Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid'
JOP
12,
(1)
6-10
2011
'Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus'
PLoS Genet
7,
(12)
, DOI
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
'Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome'
Eur J Neurosci
31,
(1)
156-164
, DOI
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
'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
2009
'Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting'
PEDIATRIC NEPHROLOGY
24,
(4)
885-885
2009
'HNF1B mutations associate with hypomagnesemia and renal magnesium wasting'
J Am Soc Nephrol
20,
(5)
1123-1131
, DOI
2007
'A targeted deletion upstream of Snrpn does not result in an imprinting defect'
Mamm Genome
18,
(4)
255-262
, DOI
2005
'A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects'
Human Molecular Genetics
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
'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
1996
'Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome'
Am J Hum Genet
59,
(1)
23-31
1995
'Cloning and mapping of murine Nfe2l1'
Genomics
25,
(3)
716-719
Conference Papers
2005
'A transgenic approach to understanding imprinting regulation in the PWS locus'
//0
//0
602-602
2005
'Conserved and diverged functions of a human Prader-Willi syndrome imprinting center (PWS-IC) in mouse'
//0
//0
101-102
2002
'Species specificity of the Prader-Willi syndrome imprinting center'
//0
//0
492-492