Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations
نویسندگان
چکیده
منابع مشابه
Pharmacological analyses of two naturally occurring porcine melanocortin-4 receptor mutations in domestic pigs.
The melanocortin-4 receptor (MC4R) is critical in regulating mammalian food intake and energy expenditure. Numerous mutations in the MC4R gene have been identified from obese humans. So far two naturally occurring porcine MC4R (pMC4R) mutations, D298N and R236H, have been identified from various strains of pigs and D298N is being utilized as a genetic marker to screen performance traits of pigs...
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The melanocortin-3 receptor (MC3R) is primarily expressed in the hypothalamus and plays an important role in the regulation of energy homeostasis. Recently, some studies demonstrated that MC3R also signals through mitogen-activated protein kinases (MAPKs), especially extracellular signal-regulated kinases 1 and 2 (ERK1/2). ERK1/2 signaling is known to alter gene expression, potentially contribu...
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Functional consequences of 12 mutations-10 missense, 1 splicing defect, and 1 frameshift mutation-were characterized in the uroporphyrinogen decarboxylase (URO-D) gene found in Utah pedigrees with familial porphyria cutanea tarda (F-PCT). All but one mutation altered a restriction site in the URO-D gene, permitting identification of affected relatives using a combination of polymerase chain rea...
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The purpose of this report is to describe some investigations which attempt to define the nature and incidence of naturally occurring leucocyte agglutinins. Agglutinins have been demonstrated in the sera of patients with acquired hemolytic anemia (1) and thrombocytopenic purpura (2, 3) and these have been distinguished from naturally occurring anti-red cell (4) and anti-platelet (5) agglutinins...
متن کاملMelanocortin-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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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2011
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2011.06.008