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Neomorphic agouti mutations in obese yellow mice.
Subsequently Meyre et al. identified further FTO heterozygous, loss-of-function mutations in obese as well as lean subjects, further clouding FTO's causative role [41] and illustrating the complexity of interpreting the function of this dioxygenase in energy balance [42].
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Wagner now plans to look for the ICAM-1 mutation in obese people.
In addition Glis3 mutations in non-obese diabetic (NOD) mice have been shown to underlie β-cell fragility and susceptibility to T1D17.
In this study, we aimed to screen the potential mutations in LEP in obese patients with BMI ≥32 kg/m to explore the mechanism of severe obesity in these patients.
Second, studies of naturally occurring loss-of-function mutations in MC4R from obese subjects [23] [27], in conjunction with structure-function studies [28], [29], have identified several key regions of the receptor that are required for binding of the endogenous ligand, α-MSH.
We screened the coding region of SH2B1 for (infrequent) mutations in 95 extremely obese children and adolescents.
PTEN and p27 loss of function mutations are associated with a good prognosis, particularly in obese women.
For example, a tendency of increase or no difference in plasma adiponectin levels was reported in obese mice with a dominant mutation in Nmf15 locus [30], Leptinob/ob mice [31], and a polygenic obese mouse strain NONcNZO5 [32].
The estimated prevalence of mutations causing monogenic forms of obesity ranges from 1 to 5% in severely obese subjects, with mutations in MC4R being most common [2].
Lack of response to leptin is also well described in obese Zucker rats, which bear a mutation (fa) in the leptin receptor gene [ 9].
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mutations in general
mutations in homozygous
mutations in essential
mutations in gastrointestinal
mutations in myeloid
mutations in ovarian
mutations in peripheral
mutations in hot
mutations in neurodevelopmental
mutations in disordered
mutations in adjacent
mutations in biological
mutations in new
mutations in critical
mutations in cellular
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