about
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientFrom bending DNA to diabetes: the curious case of HMGA1Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDECAn in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophyMosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CAEJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessonsMutations in the pericentrin (PCNT) gene cause primordial dwarfismETO/MTG8 is an inhibitor of C/EBPbeta activity and a regulator of early adipogenesisGenetic Syndromes of Severe Insulin ResistanceA genome-wide association study reveals variants in ARL15 that influence adiponectin levels.Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver diseaseRefining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Treatment of type B insulin resistance: a novel approach to reduce insulin receptor autoantibodies.Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.Managing clinically significant findings in research: the UK10K example.PPAR gamma and human metabolic diseaseCommon genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recyclingTAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.Mitochondrial dysfunction in patients with primary congenital insulin resistance.Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes.An activating mutation of AKT2 and human hypoglycemia.Successful treatment of type B insulin resistance with rituximabAdiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populationsNon-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profileMechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes.Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndromeSevere insulin resistance and hypertriglyceridemia after childhood total body irradiation.Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.Serotonin 2C receptor agonists improve type 2 diabetes via melanocortin-4 receptor signaling pathwaysParadoxical elevation of high-molecular weight adiponectin in acquired extreme insulin resistance due to insulin receptor antibodies.Truncation of POC1A associated with short stature and extreme insulin resistance
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description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Robert K Semple
@en
Robert K Semple
@es
Robert K Semple
@nl
Robert K Semple
@sl
Robert Semple
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type
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Robert K Semple
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Robert K Semple
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Robert K Semple
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Robert K Semple
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Robert Semple
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Robert Semple
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Robert K Semple
@en
Robert K Semple
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Robert K Semple
@nl
Robert K Semple
@sl
Robert Semple
@fr
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P106
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P2798
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0000-0001-6539-3069