List of works - Robert K Semple

A Pharmacogenetic Approach to the Treatment of Patients with PPARG Mutations.

scientific article published on 5 April 2018

A clinical approach to severe insulin resistance

scientific article published on January 2007

A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms.

scientific article published on 20 January 2005

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

scientific article

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure

scientific article published in January 2012

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

scholarly article

Acid-labile subunit deficiency: a case report

Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production

scientific article published on 18 February 2016

Adiponectin and leptin in human severe insulin resistance - diagnostic utility and biological insights.

scientific article published on 04 February 2012

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations

scientific article published on 10 January 2007

Adipose tissue-specific androgen generation fuels an adverse metabolic phenotype in patients with polycystic ovary syndrome

An activating mutation of AKT2 and human hypoglycemia.

scientific article

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

scientific article

Analysis of TBC1D4 in patients with severe insulin resistance.

scientific article published on 27 March 2010

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes

scientific article published on March 2007

Analytical and clinical challenges in a patient with concurrent type 1 diabetes, subcutaneous insulin resistance and insulin autoimmune syndrome

scientific article published on April 2014

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

scientific article

Autoimmune forms of hypoglycemia

scientific article published on May 2009

Autoimmune hypoglycaemia – when and how to look for anti-insulin and anti-insulin receptor antibodies

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

scholarly article by Ralitsa R Madsen published in October 2018

Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells.

scientific article published on 16 November 2012

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

scientific article

Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study

scientific article published on 10 September 2018

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

scientific article

Complement abnormalities in acquired lipodystrophy revisited

scientific article published on 14 October 2008

Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome

scientific article

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

scientific article

ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis

scientific journal article

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

scientific article published in 2011

Elevated plasma adiponectin in humans with genetically defective insulin receptors

scientific article published on 16 May 2006

European Journal of Endocrinology Prize Winner

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

scientific article published on 30 June 2008

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

scientific article published on 5 October 2017

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

scientific article

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

scientific article published on 01 January 2004

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation

scientific article published on 2 July 2014

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

scientific article

From bending DNA to diabetes: the curious case of HMGA1

scientific article

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

scientific article published on January 2007

Genetic Syndromes of Severe Insulin Resistance

scientific article (publication date: August 2011)

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

scientific article

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes

scientific article

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know

scientific article

Growth and hormone profiling in children with congenital melanocytic naevi

scientific article published on 19 August 2015

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene

scientific article published in July 2013

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

scientific article

Hyperactive PI-3-kinase signalling without hormone excess: between cancer and endocrinology

Hypoadiponectinemia--cause or consequence of human "insulin resistance"?

scientific article published on 17 February 2010

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

scientific article

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

scientific article

IGF-I treatment of insulin resistance

scientific article published on August 2007

IRS2 variants and syndromes of severe insulin resistance

scientific article published on 18 April 2009

Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.

scientific article published on 21 October 2012

Insulin Action in Common Disease: Too Much, Too Little, or Both?

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

article

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

scientific article published on 20 October 2016

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

scientific article published on June 2010

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

scientific article published on 03 June 2010

Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells

scientific article published on 11 July 2019

M13 – Workup and Management of Severe Insulin Resistance Syndromes

Managing clinically significant findings in research: the UK10K example

scientific article

Mechanistic insights into insulin resistance in the genetic era.

scientific article published on December 2011

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes

scientific article published on 28 June 2015

Metabolic insights from extreme human insulin resistance phenotypes

scientific article published on April 2012

Mitochondrial dysfunction in patients with primary congenital insulin resistance

scientific article

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.

scientific article

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

scientific article published on 21 April 2017

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

scientific article published in September 2008

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

scientific article

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

scientific article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

scientific article

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

scientific article published on 15 November 2010

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2

Neurokinin B and its receptor in hypogonadotropic hypogonadism

scientific article published on 08 April 2010

Neurokinin B signalling in the human reproductive axis

scientific article published on 22 July 2011

Next generation sequencing--implications for clinical practice ⬇️

scientific article published on June 23, 2011

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

scientific article published on October 2006

Non-alcoholic fatty liver disease in patients attending the National Severe Insulin Resistance Service

scholarly article by Sarah M Leiter et al published 1 March 2013 in Endocrine Abstracts

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance

scientific article

Novel syndromes of hypoinsulinaemic, hypoketotic hypoglycaemia

Oncogenic promotes cellular stemness in an allele dose-dependent manner

scientific article

PPAR gamma and human metabolic disease

scientific article

Paradoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies

scientific article

Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

scientific article

Perilipin deficiency and autosomal dominant partial lipodystrophy

scientific article published on February 2011

Phosphoinositide 3-kinase-related overgrowth: cellular phenotype and future therapeutic options

scientific article

Plasma Adiponectin as a Marker of Insulin Receptor Dysfunction: Clinical utility in severe insulin resistance

scientific article published on 25 February 2008

Positive correlation between transcriptomic stemness and PI3K/AKT/mTOR signaling scores in breast cancer, and a counterintuitive relationship with PIK3CA genotype

scientific article published on 11 November 2021

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

scientific article published on 26 January 2009

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation

scientific article published in February 2013

Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance

scientific article published on August 2010

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

scientific article

Serotonin 2C receptor agonists improve type 2 diabetes via melanocortin-4 receptor signaling pathways

scientific article

Severe hypo-alpha-lipoproteinemia during treatment with rosiglitazone

scientific article published in November 2004

Severe hypoinsulinaemic hypoglycaemia in a premature infant associated with poor weight gain and reduced adipose tissue

scientific article

Severe insulin resistance and hypertriglyceridemia after childhood total body irradiation

scientific article

Severe insulin resistance due to anti-insulin antibodies: response to plasma exchange and immunosuppressive therapy.

scientific article published in January 2009

Sirolimus therapy for a patient with segmental overgrowth due to a mosaic activating mutation in phosphatidylinositol-3-kinase

Society for Endocrinology Starling Medal Lecture

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

scientific article

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation

scientific article published on 11 August 2015

Successful treatment of type B insulin resistance with rituximab

scientific article published on 12 February 2015

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

scientific article

The effects of neurokinin B upon gonadotrophin release in male rodents.

scientific article published on 23 December 2009

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation

scientific article published on 5 May 2008

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion.

scientific article published on 14 December 2017

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

scientific article published on 29 August 2009

The role of androgens in PCOS-related insulin resistance

scholarly article by Michael O'Reilly et al published 1 May 2015 in Endocrine Abstracts

Treatment of type B insulin resistance: a novel approach to reduce insulin receptor autoantibodies

scientific article

Treatment with recombinant human insulin-like growth factor (rhIGF)-I/rhIGF binding protein-3 complex improves metabolic control in subjects with severe insulin resistance

scientific article published on 16 March 2010

Truncation of POC1A associated with short stature and extreme insulin resistance

scientific article

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

scientific article published on 14 December 2004

List of works by Robert K Semple

A Pharmacogenetic Approach to the Treatment of Patients with PPARG Mutations.

A clinical approach to severe insulin resistance

A dominant negative human peroxisome proliferator-activated receptor (PPAR){alpha} is a constitutive transcriptional corepressor and inhibits signaling through all PPAR isoforms.

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.

Acid-labile subunit deficiency: a case report

Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production

Adiponectin and leptin in human severe insulin resistance - diagnostic utility and biological insights.

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations

Adipose tissue-specific androgen generation fuels an adverse metabolic phenotype in patients with polycystic ovary syndrome

An activating mutation of AKT2 and human hypoglycemia.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Analysis of TBC1D4 in patients with severe insulin resistance.

Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes

Analytical and clinical challenges in a patient with concurrent type 1 diabetes, subcutaneous insulin resistance and insulin autoimmune syndrome

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Autoimmune forms of hypoglycemia

Autoimmune hypoglycaemia – when and how to look for anti-insulin and anti-insulin receptor antibodies

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells.

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

Complement abnormalities in acquired lipodystrophy revisited

Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

ETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesis

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Elevated plasma adiponectin in humans with genetically defective insulin receptors

European Journal of Endocrinology Prize Winner

Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

From bending DNA to diabetes: the curious case of HMGA1

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

Genetic Syndromes of Severe Insulin Resistance

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know

Growth and hormone profiling in children with congenital melanocytic naevi

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

Hyperactive PI-3-kinase signalling without hormone excess: between cancer and endocrinology

Hypoadiponectinemia--cause or consequence of human "insulin resistance"?

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

IGF-I treatment of insulin resistance

IRS2 variants and syndromes of severe insulin resistance

Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.

Insulin Action in Common Disease: Too Much, Too Little, or Both?

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells

M13 – Workup and Management of Severe Insulin Resistance Syndromes

Managing clinically significant findings in research: the UK10K example

Mechanistic insights into insulin resistance in the genetic era.

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes

Metabolic insights from extreme human insulin resistance phenotypes

Mitochondrial dysfunction in patients with primary congenital insulin resistance

Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2

Neurokinin B and its receptor in hypogonadotropic hypogonadism

Neurokinin B signalling in the human reproductive axis

Next generation sequencing--implications for clinical practice ⬇️

Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance