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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

The journal of clinical endocrinology and metabolism, 2005-03, Vol.90 (3), p.1849-1855

2005

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

International Journal of Obesity, 2010-10, Vol.34 (10), p.1554-1558

2010

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Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies

The journal of clinical endocrinology and metabolism, 2010-08, Vol.95 (8), p.3641-3647

2010

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

International Journal of Obesity, 2004-01, Vol.28 (1), p.176-179

2004

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Mechanistic insights into insulin resistance in the genetic era

Diabetic medicine, 2011-12, Vol.28 (12), p.1476-1486

2011

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Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors

The journal of clinical endocrinology and metabolism, 2006-08, Vol.91 (8), p.3219-3223

2006

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The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents

Journal of neuroendocrinology, 2010-03, Vol.22 (3), p.181-187

2010

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

Diabetic medicine, 2009-01, Vol.26 (1), p.79-82

2009

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

European journal of endocrinology, 2008-09, Vol.159 (3), p.347-353

2008

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An Activating Mutation of AKT2 and Human Hypoglycemia

Science (American Association for the Advancement of Science), 2011-10, Vol.334 (6055), p.474-474

2011

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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 multicenter, open-label, single-arm study

Genetics in medicine, 2021-12, Vol.23 (12), p.2433-2442

2021

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

Clinical endocrinology (Oxford), 2007-01, Vol.66 (1), p.21-26

2007

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

Diabetologia, 2011-05, Vol.54 (5), p.1057-1065

2011

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

Diabetologia, 2007-03, Vol.50 (3), p.555-562

2007

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Growth and hormone profiling in children with congenital melanocytic naevi

British journal of dermatology (1951), 2015-12, Vol.173 (6), p.1471-1478

2015

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Analysis of TBC1D4 in patients with severe insulin resistance

Diabetologia, 2010-06, Vol.53 (6), p.1239-1242

2010

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

Diabetic medicine, 2016-03, Vol.33 (3), p.e8-e12

2016

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IRS2 variants and syndromes of severe insulin resistance

Diabetologia, 2009-06, Vol.52 (6), p.1208-1211

2009

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A Dominant Negative Human Peroxisome Proliferator-Activated Receptor (PPAR)α Is a Constitutive Transcriptional Corepressor and Inhibits Signaling through All PPAR Isoforms

Endocrinology (Philadelphia), 2005-04, Vol.146 (4), p.1871-1882

2005

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

Diabetic medicine, 2015-10, Vol.32 (10), p.e24-e28

2015

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Adiponectin and leptin in human severe insulin resistance – Diagnostic utility and biological insights

Biochimie, 2012-10, Vol.94 (10), p.2172-2179

2012

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Next generation sequencing--implications for clinical practice

British medical bulletin, 2011-09, Vol.99 (1), p.53-71

2011

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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

Clinical and experimental dermatology, 2017-10, Vol.42 (7), p.763-766

2017

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

European journal of endocrinology, 2016-05, Vol.174 (5), p.R209-R223

Semple, R K

2016

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

Endocrinology, diabetes & metabolism case reports, 2014-04, Vol.2014, p.130086-130086

2014

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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

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

Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies

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

Mechanistic insights into insulin resistance in the genetic era

Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors

The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents

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

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

An Activating Mutation of AKT2 and Human Hypoglycemia

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 multicenter, open-label, single-arm study

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

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

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

Growth and hormone profiling in children with congenital melanocytic naevi

Analysis of TBC1D4 in patients with severe insulin resistance

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

IRS2 variants and syndromes of severe insulin resistance

A Dominant Negative Human Peroxisome Proliferator-Activated Receptor (PPAR)α Is a Constitutive Transcriptional Corepressor and Inhibits Signaling through All PPAR Isoforms

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

Adiponectin and leptin in human severe insulin resistance – Diagnostic utility and biological insights

Next generation sequencing--implications for clinical practice

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

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

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

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