Robert Semple
Chair of Translational Molecular Medicine
Address
- Street
-
Queens Medical Research Institute
Edinburgh Bioquarter
47 Little France Crescent - City
- Edinburgh
- Post code
- EH16 4TJ
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Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
In:
European Journal of Endocrinology
DOI: https://doi.org/10.1530/EJE-21-0609
Research output: Contribution to Journal › Article (Published) -
Identification of rare loss of function genetic variation regulating body fat distribution
In:
Journal of Clinical Endocrinology & Metabolism
Research output: Contribution to Journal › Article (Accepted/In press) -
Insulin at 100 years – is rebalancing its action key to fighting obesity-related disease?
In:
Disease Models and Mechanisms, vol. 14
DOI: https://doi.org/10.1242/dmm.049340
Research output: Contribution to Journal › Review article (Published) -
Positive correlation between transcriptomic stemness and PI3K/AKT/mTOR signaling scores in breast cancer, and a counterintuitive relationship with PIK3CA genotype
In:
PLoS Genetics
DOI: https://doi.org/10.1371/journal.pgen.1009876
Research output: Contribution to Journal › Article (Published) -
Genome-wide Analysis Identifies Novel Gallstone-susceptibility Loci Including Genes Regulating Gastrointestinal Motility
(33 pages)
In:
Hepatology, pp. 1-33
DOI: https://doi.org/10.1002/hep.32199
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Genome-Wide Association Study of Non-Alcoholic Fatty Liver Disease using Electronic Health Records
In:
Hepatology Communications
DOI: https://doi.org/10.1002/hep4.1805
Research output: Contribution to Journal › Article (Published) -
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and KLIPPEL TRENAUNAY SYNDROME (KTS): the TOTEM trial, a phase 1/2 multicentre, open-label, single-arm study
In:
Genetics in Medicine
DOI: https://doi.org/10.1038/s41436-021-01290-y
Research output: Contribution to Journal › Article (Published) -
A standard of care for individuals with PIK3CA ‐related disorders: an international expert consensus statement
In:
Clinical genetics
DOI: https://doi.org/10.1111/cge.14027
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth
In:
Genetics in Medicine
DOI: https://doi.org/10.1038/s41436-021-01211-z
Research output: Contribution to Journal › Article (Published) -
Increased C-peptide immunoreactivity in insulin autoimmune syndrome (Hirata disease) due to high molecular weight proinsulin
In:
Clinical Chemistry
DOI: https://doi.org/10.1093/clinchem/hvab043
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Ovarian hyperandrogenism and its response to 1 gonadotropin-releasing hormone 2 analogue therapy in primary severe insulin resistance
In:
Journal of Clinical Endocrinology & Metabolism
DOI: https://doi.org/10.1210/clinem/dgab275
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
In:
Genetics in Medicine
DOI: https://doi.org/10.1038/s41436-021-01161-6
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
In:
Orphanet journal of rare diseases
DOI: https://doi.org/10.1186/s13023-021-01745-0
Research output: Contribution to Journal › Article (E-pub ahead of print) -
NODAL/TGFβ signalling mediates the self-sustained stemness induced by PIK3CAH1047R homozygosity in pluripotent stem cells
In:
Disease Models and Mechanisms, pp. dmm.048298
DOI: https://doi.org/10.1242/dmm.048298
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Anti-Insulin receptor antibodies improve hyperglycemia in a mouse model of human insulin receptoropathy
In:
Diabetes, vol. 69, pp. 2481-2489
DOI: https://doi.org/10.2337/db20-0345
Research output: Contribution to Journal › Article (Published) -
Type B insulin resistance syndrome associated with connective tissue disease and psoriasis
In:
Endocrinology, Diabetes and Metabolism Case Reports
DOI: https://doi.org/10.1530/EDM-20-0027
Research output: Contribution to Journal › Article (E-pub ahead of print) -
Endocrinology in the time of COVID-19: Remodelling Diabetes Services and Promoting Innovation
In:
European Journal of Endocrinology
DOI: https://doi.org/10.1530/EJE-20-0377
Research output: Contribution to Journal › Article (Published) -
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
In:
European Journal of Human Genetics
DOI: https://doi.org/10.1038/s41431-020-0651-7
Research output: Contribution to Journal › Article (Published) -
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidemia by increased energy expenditure
In:
Molecular Metabolism, pp. 101020
DOI: https://doi.org/10.1016/j.molmet.2020.101020
Research output: Contribution to Journal › Article (Published) -
Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes
In:
Scientific Reports, vol. 10
DOI: https://doi.org/10.1038/s41598-020-64136-8
Research output: Contribution to Journal › Article (Published)