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Variation in FTO contributes to childhood obesity and severe adult obesity
TLDR
It is concluded that FTO contributes to human obesity and hence may be a target for subsequent functional analyses. Expand
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
TLDR
A homozygous mutation in the human leptin receptor gene results in a truncated leptin receptor lacking both the transmembrane and the intracellular domains, which indicates that leptin is an important physiological regulator of several endocrine functions in humans. Expand
The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity
TLDR
In the early phase of obesity, alleles of the INS variable number of tandem repeat (VNTR) locus are associated with different effects of body fatness on insulin secretion, and young obese patients homozygous for class I VNTR alleles secrete more insulin than those with other genotypes. Expand
Towards a new developmental synthesis: adaptive developmental plasticity and human disease
TLDR
Developmental plasticity has been viewed traditionally in the context of major disruptions such as caused by teratogens, prematurity and growth retardation, but there is increasing appreciation of the role of developmental plasticity. Expand
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.
TLDR
Gain-of-function mutations I251L and V103I may be responsible for a preventive fraction of obesity of 2%, which mirrors the prevalence of monogenic obesity due to MC4R haploinsufficiency, and emphasize the importance of theMC4R signalling tonus to prevent obesity, even in the context of the current obesogenic environment. Expand
Global epidemiology of type 1 diabetes in young adults and adults: a systematic review
TLDR
There is an unmet need to evaluate the incidence of autoimmune T1D in adults, using specific autoantibody detection, and to better analyze epidemiological specificities – if any – of adult T1d. Expand
The human MC4R promoter: characterization and role in obesity.
TLDR
Systematic screening of 431 obese children and adults for mutations in the coding sequence and the minimal core promoter ofMC4R reveals that genetic variation in the transcriptionally essential region of the MC4R promoter is not a significant cause of severe obesity in humans. Expand
XPG and XPF endonucleases trigger chromatin looping and DNA demethylation for accurate expression of activated genes.
TLDR
It is demonstrated that XPG endonuclease promotes DNA breaks and DNA demethylation at promoters allowing the recruitment of CTCF and gene looping, which is further stabilized by XPF. Expand
Genetic study of the melanin-concentrating hormone receptor 2 in childhood and adulthood severe obesity.
TLDR
The results altogether suggest that MCHR2 is not a major contributor to polygenic obesity and support a modest effect of the A76A SNP on food intake abnormalities in childhood. Expand
The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature
TLDR
The d3-GHR variant is a common genetic polymorphism that modulates GH responsiveness throughout the life span and positively affects male longevity, and the presence of d3/d3 genotype adds approximately 10 years to life span. Expand
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