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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronNew genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskEndoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDLDysfunction of lipid sensor GPR120 leads to obesity in both mouse and humanDirectional dominance on stature and cognition in diverse human populationsA genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levelsA genome-wide association search for type 2 diabetes genes in African AmericansGenetic variation in GIPR influences the glucose and insulin responses to an oral glucose challengeGenome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion.MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 EuropeansMultiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels.Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetesNovel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathwaysAnalysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children.What is the contribution of two genetic variants regulating VEGF levels to type 2 diabetes risk and to microvascular complications?The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue.Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?New gene functions in megakaryopoiesis and platelet formationRelationship between salivary/pancreatic amylase and body mass index: a systems biology approachA common variant highly associated with plasma VEGFA levels also contributes to the variation of both LDL-C and HDL-C.New loci for body fat percentage reveal link between adiposity and cardiometabolic disease riskGenome-wide association analysis identifies three new susceptibility loci for childhood body mass indexLoss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresRare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetesG-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans.Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling.Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits.Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function
P50
Q24307394-807756BD-36DB-4454-8429-6F9B872D3A35Q28270700-4D1F8A51-E64A-4B04-A5E7-0719867DAAF7Q28554206-A4AD5D03-87B1-490A-A70E-171D2E0BD082Q28591078-DF9C117E-5146-4E39-A958-AFF9D6A66C99Q28646221-E0D5A562-0F71-4F92-8C40-06E6CAB4861CQ28731542-962BC0B6-533E-4AFF-B8BE-69B632CDE2B0Q28740367-C52AE95B-C022-421C-AC50-A3BC6668B118Q29147442-580B8A89-C181-4C7A-9502-3504ACBCCC77Q30352681-84034A11-9C0F-4CF8-B275-7EA4977D22EAQ30466668-65BE4BC7-0AA7-4D28-8F3B-A31BA4D87938Q30478819-8EAEFEB8-0665-49A1-BB8C-E5C48E8B8413Q33610252-C251361F-C5B3-4804-8B81-EA3999FEDCB3Q33688645-0D491879-9293-4BCF-9FF7-3EB76059C8C4Q33726555-DB2B7FAB-B65E-45BB-9E74-4EBF0B91690CQ33869843-62AD404C-5657-41C5-B32D-F802ED50F2EFQ33930004-C3845798-FFD9-443C-BDCF-930A6770E694Q33969045-F4B28D05-E710-4E42-9441-5D2DCFCA2D4EQ34221038-03B8607A-C7E4-44EC-87B5-A1D8D0D51068Q34355379-7DB2D8F3-42CE-43FB-A242-725DC99664AAQ34572543-312C50B5-28C4-49D2-B1B4-F2A11BD5A61EQ34584614-90FCADAA-E433-4BC2-B693-60962486FF2BQ34673513-2DBEAC76-D774-467D-98FF-EC0315CEC6DFQ34765317-94F537F3-0262-4377-9ED8-2B950029D10AQ34897205-378D0755-701B-459D-AF74-44B5F9B5E3D2Q35150213-8E6209FD-CBF4-4F95-9FF2-AC58C51E3DB4Q35177849-913B1A2E-52EA-40D9-9DBA-2A931763F5EFQ35626071-7BA74074-653C-48D5-84BC-9FDA15F9328CQ35757121-5A8D9E1A-7292-489A-9C9A-3FB58CBCBFA8Q35850123-0C085506-FB4A-4786-BCC7-912CEF5AF818Q35909375-EB3D26F3-D4E6-44B6-84B8-E016DC1928B5Q36287821-AEBA8A71-4871-4A9B-B853-6E10E5DB2FEBQ36536068-2D37723F-5B0C-4548-A06F-DBA0E270C3C6Q36541220-BDCF8D6B-4682-476B-9700-1E885C896EA4Q36861322-7BF8EED2-458D-4228-B47D-CC8E54C36C18Q36966943-3CA61725-58C6-4E9E-B230-96D5974C4413Q37173576-3D7277FE-C0EC-4895-A1AB-F5C84EA9550FQ37193733-669AC283-050C-48B1-91E4-79DA0556F082Q37279013-40E452BC-123D-437E-852C-8EC8BBBF4AB0Q37400781-53F3A3E2-09B6-44A5-B8D2-0129C53714E8Q37439991-E694C22C-9B12-49E7-92C7-576BE6B0647B
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Amélie Bonnefond
@ast
Amélie Bonnefond
@en
Amélie Bonnefond
@es
Amélie Bonnefond
@nl
type
label
Amélie Bonnefond
@ast
Amélie Bonnefond
@en
Amélie Bonnefond
@es
Amélie Bonnefond
@nl
altLabel
Amelie Bonnefond
@en
Bonnefond A
@en
prefLabel
Amélie Bonnefond
@ast
Amélie Bonnefond
@en
Amélie Bonnefond
@es
Amélie Bonnefond
@nl
P1053
O-2784-2017
P106
P21
P2798
P31
P3829
P496
0000-0001-9976-3005