Robert K Semple
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Explore the profile of Robert K Semple including associated specialties, affiliations and a list of published articles.
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135
Citations
5293
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Recent Articles
1.
Rakshasa-Loots A, Steyn C, Swiffen D, Marwick K, Semple R, Reynolds R, et al.
BMC Psychiatry
. 2025 Feb;
25(1):122.
PMID: 39948527
People with severe mental illness have high rates of obesity, type 2 diabetes, and cardiovascular disease. Emerging evidence suggests that metabolic dysfunction may be causally linked to the risk of...
2.
Tomlinson P, Knox R, Perisic O, Su H, Brierley G, Williams R, et al.
Elife
. 2025 Jan;
13.
PMID: 39835783
encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional mutations cause diseases with a genotype-phenotype...
3.
Mann J, Tabara L, Patel S, Pushpa P, Alvarez-Guaita A, Dong L, et al.
PLoS One
. 2024 Dec;
19(12):e0306243.
PMID: 39739772
Objective: A biallelic missense mutation in mitofusin 2 (MFN2) causes multiple symmetric lipomatosis and partial lipodystrophy, implicating disruption of mitochondrial fusion or interaction with other organelles in adipocyte differentiation, growth...
4.
Salis Torres A, Lee J, Caporali A, Semple R, Horrocks M, Macrae V
Int J Mol Sci
. 2024 Oct;
25(20).
PMID: 39456761
Individuals diagnosed with Parkinson's disease (PD) often exhibit heightened susceptibility to cardiac dysfunction, reflecting a complex interaction between these conditions. The involvement of mitochondrial dysfunction in the development and progression...
5.
Kwok T, Ramage L, Kelman A, Suchacki K, Gray C, Boyle L, et al.
Eur J Endocrinol
. 2024 Jun;
191(1):106-115.
PMID: 38917410
Objective: Brown adipose tissue (BAT) is a therapeutic target for obesity. 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) is commonly used to quantify human BAT mass and activity. Detectable 18F-FDG uptake...
6.
McKay E, Luijten I, Broadway-Stringer S, Thomson A, Weng X, Gehmlich K, et al.
Dis Model Mech
. 2024 May;
17(6).
PMID: 38756069
Alström syndrome (AS), a multisystem disorder caused by biallelic ALMS1 mutations, features major early morbidity and mortality due to cardiac complications. The latter are biphasic, including infantile dilated cardiomyopathy and...
7.
McKay E, Luijten I, Weng X, Martinez de Morentin P, De Frutos Gonzalez E, Gao Z, et al.
Mol Metab
. 2024 Apr;
84:101933.
PMID: 38583571
Objective: Alström Syndrome (AS), caused by biallelic ALMS1 mutations, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and fatty liver. Prior studies suggest that hyperphagia is accounted for by...
8.
Semple R, Patel K, Auh S, Brown R
Commun Med (Lond)
. 2024 Mar;
4(1):57.
PMID: 38532029
No abstract available.
9.
Tomlinson P, Knox R, Perisic O, Su H, Brierley G, Williams R, et al.
bioRxiv
. 2023 Dec;
PMID: 38077044
encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β or p110δ. Constitutional mutations cause diseases with a genotype-phenotype...
10.
Welters A, Leiter S, Bachmann N, Bergmann C, Hoermann H, Korsch E, et al.
Orphanet J Rare Dis
. 2023 Nov;
18(1):360.
PMID: 37974153
Background: Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable insulin has recently been described in syndromic...