By Moore R. L.
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Additional info for Concerning Paths That Do Not Separate a Given Continuous Curve
S. Farooqi (*) • S. A. S. Farooqi and S. O’Rahilly History, Family History, Examination Suspect Genetic Syndrome Is there developmental delay or are dysmorphic features evident ? yes positive Prader-Willi Syndrome Fragile X syndrome Karyotype DNA methylation studies no Alstroms Syndrome negative negative positive Is there evidence of dysmorphia or skeletal abnormalities Is there evidence of retinal dystrophy ? negative positive negative Bardet-Biedl Syndrome Cohen Syndrome positive Is there evidence of photophobia or nystagmus?
Similarly, estimates derived from the comparison of the phenotypic correlations observed between monozygotic and dizygotic twin pairs are based on the assumption that both types of twin are exposed to a similar degree of shared environment , an assumption that may not be appropriate for intrauterine exposures. Notwithstanding the above, it seems likely that an appreciable component of the genetic variance remains unexplained, and that at least part of this will be attributable to low frequency and rare variants not well captured by GWAS studies to date.
Leptin is an adipocyte-derived hormone whose circulating levels correlate closely with fat mass. The physiological effects of leptin are mediated through the long isoform of the leptin receptor which is widely expressed in the hypothalamus and other brain regions involved in energy homeostasis. Leptin stimulates the expression of pro-opiomelanocortin (POMC) in primary neurons located 2 Genetic Obesity Syndromes 27 in the arcuate nucleus of the hypothalamus. POMC is extensively post-translationally modified to generate the melanocortin peptides, which activate the melanocortin receptors to modulate diverse functions in the central nervous system, the adrenal gland and the skin.