(Q37634967)

21 August 2017

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title

Human genetics illuminates the paths to metabolic disease (English)

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21 August 2017

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Stephen O'Rahilly

1

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language of work or name

English

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publication date

1 November 2009

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21 August 2017

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21 August 2017

462

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21 August 2017

307-314

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21 August 2017

7271

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https://scigraph.springernature.com/pub.10.1038/nature08532

21 August 2017

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cites work

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE08532

Insulin resistance due to mutations of the insulin receptor gene: an overview.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE08532

Measuring food intake in studies of obesity

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE08532

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

21 January 2018

1 reference

12 December 2020

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

1 reference

12 December 2020

Genetics and type 2 diabetes in youth

1 reference

12 December 2020

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

1 reference

12 December 2020

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

12 December 2020

The fourth musketeer--from Alexandre Dumas to Claude Bernard

1 reference

12 December 2020

An obesity-associated FTO gene variant and increased energy intake in children

1 reference

12 December 2020

Heritability of type II (non-insulin-dependent) diabetes mellitus and abnormal glucose tolerance--a population-based twin study.

1 reference

12 December 2020

A frameshift mutation in human MC4R is associated with a dominant form of obesity

1 reference

12 December 2020

Variation in FTO contributes to childhood obesity and severe adult obesity

1 reference

12 December 2020

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

1 reference

12 December 2020

Positional cloning of the mouse obese gene and its human homologue

1 reference

12 December 2020

Targeted disruption of the melanocortin-4 receptor results in obesity in mice

1 reference

12 December 2020

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

1 reference

12 December 2020

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

12 December 2020

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

12 December 2020

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

1 reference

12 December 2020

Impaired glucose transport as a cause of decreased insulin-stimulated muscle glycogen synthesis in type 2 diabetes

1 reference

12 December 2020

Albright's hereditary osteodystrophy and defective G proteins

1 reference

12 December 2020

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

1 reference

12 December 2020

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

1 reference

12 December 2020

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

1 reference

12 December 2020

Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes

1 reference

12 December 2020

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

1 reference

12 December 2020

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene

1 reference

12 December 2020

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

1 reference

12 December 2020

A frameshift mutation in MC4R associated with dominantly inherited human obesity

1 reference

12 December 2020

Genome-wide association studies in type 2 diabetes

1 reference

12 December 2020

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

1 reference

12 December 2020

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

12 December 2020

A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

1 reference

12 December 2020

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

1 reference

12 December 2020

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

1 reference

12 December 2020

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

1 reference

12 December 2020

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

1 reference

12 December 2020

Maturity-onset diabetes of the young: a clinical history

1 reference

12 December 2020

Association of TCF7L2 gene polymorphisms with reduced acute insulin response in Hispanic Americans

1 reference

12 December 2020

Inactivation of the Fto gene protects from obesity

1 reference

12 December 2020

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

1 reference

12 December 2020

Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.

1 reference

12 December 2020

Common nonsynonymous variants in PCSK1 confer risk of obesity

1 reference

12 December 2020

Variants in MTNR1B influence fasting glucose levels

1 reference

12 December 2020

Clinical risk factors, DNA variants, and the development of type 2 diabetes

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)

1 reference

12 December 2020

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

1 reference

12 December 2020

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

1 reference

12 December 2020

Global prevalence of diabetes: estimates for the year 2000 and projections for 2030

1 reference

12 December 2020

Genetic and environmental factors in relative body weight and human adiposity

1 reference

12 December 2020

The common obesity variant near MC4R gene is associated with higher intakes of total energy and dietary fat, weight change and diabetes risk in women

1 reference

12 December 2020

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

1 reference

12 December 2020

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

12 December 2020

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

1 reference

12 December 2020

Etiology of insulin resistance

1 reference

12 December 2020

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

1 reference

12 December 2020

Congenital leptin deficiency is associated with severe early-onset obesity in humans

1 reference

12 December 2020

Lower metabolic rate in individuals heterozygous for either a frameshift or a functional missense MC4R variant

1 reference

12 December 2020

Pathogenesis of NIDDM--a disease of deficient insulin secretion

1 reference

12 December 2020

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1 reference

12 December 2020

Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.

1 reference

12 December 2020

Inflammation and insulin resistance

1 reference

12 December 2020

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

1 reference

12 December 2020

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

1 reference

12 December 2020

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

12 December 2020

Obesity as a medical problem

1 reference

12 December 2020

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

12 December 2020

Human obesity: a heritable neurobehavioral disorder that is highly sensitive to environmental conditions

1 reference

12 December 2020

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

1 reference

12 December 2020

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

1 reference

12 December 2020

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

1 reference

12 December 2020

Common variants near MC4R are associated with fat mass, weight and risk of obesity

1 reference

12 December 2020

Mitochondrial dysfunction in type 2 diabetes and obesity

1 reference

12 December 2020

A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels

1 reference

12 December 2020

Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

1 reference

12 December 2020

The central melanocortin system directly controls peripheral lipid metabolism

1 reference

12 December 2020

Evidence for a strong genetic influence on childhood adiposity despite the force of the obesogenic environment

1 reference

12 December 2020

Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing

1 reference

12 December 2020

A genome-wide association study identifies novel risk loci for type 2 diabetes

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

1 reference

12 December 2020

WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells

1 reference

12 December 2020

An imprinted gene(s) for diabetes?

1 reference

12 December 2020

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

1 reference

12 December 2020

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

12 December 2020

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function

1 reference

12 December 2020

Prevention of type 2 diabetes mellitus by changes in lifestyle among subjects with impaired glucose tolerance

1 reference

12 December 2020

What if Minkowski had been ageusic? An alternative angle on diabetes

1 reference

12 December 2020

Brain-derived neurotrophic factor and obesity in the WAGR syndrome

1 reference

12 December 2020

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

1 reference

12 December 2020

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

1 reference

12 December 2020

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

1 reference

12 December 2020

Energy expenditure in obesity.

1 reference

12 December 2020

Banting lecture 1988. Role of insulin resistance in human disease

1 reference

12 December 2020

The key role of islet dysfunction in type II diabetes mellitus.

1 reference

12 December 2020

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Common variants in WFS1 confer risk of type 2 diabetes

1 reference

12 December 2020

A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk

1 reference

12 December 2020

Endoplasmic reticulum stress and the development of diabetes: a review

1 reference

12 December 2020

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

1 reference

12 December 2020

Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes

1 reference

12 December 2020

Quantitative trait analysis of type 2 diabetes susceptibility loci identified from whole genome association studies in the Insulin Resistance Atherosclerosis Family Study

1 reference

12 December 2020

Genotype score in addition to common risk factors for prediction of type 2 diabetes

1 reference

12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

12 December 2020

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

1 reference

12 December 2020

Identifiers

DOI

10.1038/NATURE08532

1 reference

21 August 2017

1 reference

PubMed ID

19924209