Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index

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Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.

T he melanocortin-4 receptor gene (MC4R) is involved in central energy homeostasis and body weight regulation. Both endogenous anorexigenic and orexigenic ligands bind to the receptor. Under normal conditions, the anorexigenic tone prevails as revealed by the fact that Mc4r knockout mice develop elevated body weight. Mc4r mice show higher food intake but a similar metabolic rate and similar dec...

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Melanocortin-4 receptor gene mutations in obese Slovak children.

The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different countries (1.2-6.3 % of obese children). The aim of our study was 1) to search for MC4R mutations in obese children in Slovakia and compare their prevalence with other European countries, and 2) to describe the phenotype of the mutation ...

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Onm-4: Physical Activity, Body Mass Index,and Fertility Status

Background: Body mass index and physical activity may affect the reproductive system. The purpose of this study was to determine the fertility status and parity and its relationship with physical activity and body mass index in a community in Babol, Iran. Materials and Methods: The research design of the present study was a population based cross-sectional study, and their current physical acti...

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Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed. Here, we mined evolution as an additional source of structural information that may help to evaluate the functional relevance of naturally oc...

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Association between the Melanocortin-4 Receptor (MC4R) Gene Polymorphisms and Growth Trait in Sumba Ongole Cattle

Melanocortin-4 receptor (MC4R) gene has been known as a candidate gene for growth traits in livestock. This research was aimed to identify the polymorphism of MC4R gene and its association with growth traits in Sumba Ongole (SO) cattle. The growth traits data consist of body weight and body size. Eighty four blood samples were collected and used for DNA isolation. The...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2004

ISSN: 1468-6244

DOI: 10.1136/jmg.2004.018614