Sympathetic Function in Human Carriers of Melanocortin-4 Receptor Gene Mutations
نویسندگان
چکیده
منابع مشابه
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 ...
متن کاملAssociation 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...
متن کاملEvolutionary 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...
متن کاملDo common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.
BACKGROUND/AIMS Genome-wide association studies revealed associations of single nucleotide polymorphisms (SNPs) flanking MC4R with body mass index variability and obesity. We genotyped 28 SNPs, covering MC4R, and searched for haplotypes discriminating between obese mutation carriers and non-carriers. METHODS We analyzed all three-marker haplotype combinations of the 28 SNPs to discriminate be...
متن کاملMelanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
OBJECTIVE Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity. Data regarding MC4R mutations in Turkish subjects are limited. To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents. METHODS MC4R was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1-18 ye...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2010
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2009-2297