Matches in SemOpenAlex for { <https://semopenalex.org/work/W2413473403> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W2413473403 endingPage "30" @default.
- W2413473403 startingPage "121" @default.
- W2413473403 abstract "Proopiomelanocortin (POMC) is a precursor of ACTH, beta- and gamma-liportopins, alpha-, beta- and gamma-MSH, beta-endorphin. alpha-, beta- and gamma-MSH are synthesized by hypothalamus neurons, and leptin stimulates their synthesis. These hormones regulate food consumption and energy metabolism by via melanocortin receptors (MC3-R and MC4-R) in hypothalamus. Screening mutations in the coding region of human POMC has been carried out with PCR, SSCP and DNA sequencing and the association study of these mutations and human obesity has been performed. Group of patients with the exogenous obesity (BMI 37.8 +/- 6.8 kg/m2) consisted of 228 persons (173 women and 55 men). 145 blood donors (67 women and 78 men) without obesity (BMI J25 kg/m2, 23.1 +/- 2.2 kg/m2) and 170 women without apparent obesity at the beginning of the study were included in the control group. 8 polymorph sites: insertions; missense and silent mutations have been identified in the coding region of POMC. Among them 1) two heterozygous mutations: the insertion of 6 b.p. (GGGCCC) in codon 176 inducing the insertion of two amino acid residues (Arg-Ala) in POMC and nonsense mutation (G-7316-T) in codon 180 of gamma-LTH coding region of the same DNA chain were identified in 4 women (5.8%) out of 69 patients with morbid obesity (BMI 40-53 kg/m2). These mutations were not found in control (n = 315). 2) The new heterozygous mutation T-7130-C (Phe118Leu) in active site of alpha-MSH has been identified in POMC gene of a woman suffering with obesity since the early childhood. 3) Mutation A-7341-G (Glu188Gly) seemed to have a protective effect because it was revealed more frequently in control (3.9%) than in obese patients (0.66%). The results of genetic study of two pedigrees suggested the dominant influence of the first two mutations (1 and 2) on woman obesity." @default.
- W2413473403 created "2016-06-24" @default.
- W2413473403 creator A5015767699 @default.
- W2413473403 creator A5025169474 @default.
- W2413473403 creator A5071027900 @default.
- W2413473403 creator A5075784718 @default.
- W2413473403 creator A5075803252 @default.
- W2413473403 creator A5081836977 @default.
- W2413473403 creator A5089620149 @default.
- W2413473403 date "2002-06-19" @default.
- W2413473403 modified "2023-09-23" @default.
- W2413473403 title "[Screening of mutations in genes of pro-opiomelanocortin in patients with constitutional exogenous obesity]." @default.
- W2413473403 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12068494" @default.
- W2413473403 hasPublicationYear "2002" @default.
- W2413473403 type Work @default.
- W2413473403 sameAs 2413473403 @default.
- W2413473403 citedByCount "3" @default.
- W2413473403 countsByYear W24134734032015 @default.
- W2413473403 countsByYear W24134734032016 @default.
- W2413473403 countsByYear W24134734032017 @default.
- W2413473403 crossrefType "journal-article" @default.
- W2413473403 hasAuthorship W2413473403A5015767699 @default.
- W2413473403 hasAuthorship W2413473403A5025169474 @default.
- W2413473403 hasAuthorship W2413473403A5071027900 @default.
- W2413473403 hasAuthorship W2413473403A5075784718 @default.
- W2413473403 hasAuthorship W2413473403A5075803252 @default.
- W2413473403 hasAuthorship W2413473403A5081836977 @default.
- W2413473403 hasAuthorship W2413473403A5089620149 @default.
- W2413473403 hasConcept C104317684 @default.
- W2413473403 hasConcept C126322002 @default.
- W2413473403 hasConcept C134018914 @default.
- W2413473403 hasConcept C2777003273 @default.
- W2413473403 hasConcept C2780613262 @default.
- W2413473403 hasConcept C501734568 @default.
- W2413473403 hasConcept C511355011 @default.
- W2413473403 hasConcept C54355233 @default.
- W2413473403 hasConcept C71924100 @default.
- W2413473403 hasConcept C75563809 @default.
- W2413473403 hasConcept C86803240 @default.
- W2413473403 hasConcept C96777560 @default.
- W2413473403 hasConceptScore W2413473403C104317684 @default.
- W2413473403 hasConceptScore W2413473403C126322002 @default.
- W2413473403 hasConceptScore W2413473403C134018914 @default.
- W2413473403 hasConceptScore W2413473403C2777003273 @default.
- W2413473403 hasConceptScore W2413473403C2780613262 @default.
- W2413473403 hasConceptScore W2413473403C501734568 @default.
- W2413473403 hasConceptScore W2413473403C511355011 @default.
- W2413473403 hasConceptScore W2413473403C54355233 @default.
- W2413473403 hasConceptScore W2413473403C71924100 @default.
- W2413473403 hasConceptScore W2413473403C75563809 @default.
- W2413473403 hasConceptScore W2413473403C86803240 @default.
- W2413473403 hasConceptScore W2413473403C96777560 @default.
- W2413473403 hasIssue "1" @default.
- W2413473403 hasLocation W24134734031 @default.
- W2413473403 hasOpenAccess W2413473403 @default.
- W2413473403 hasPrimaryLocation W24134734031 @default.
- W2413473403 hasRelatedWork W1592589683 @default.
- W2413473403 hasRelatedWork W2030430066 @default.
- W2413473403 hasRelatedWork W2036514175 @default.
- W2413473403 hasRelatedWork W2039074626 @default.
- W2413473403 hasRelatedWork W2159380553 @default.
- W2413473403 hasRelatedWork W2166890779 @default.
- W2413473403 hasRelatedWork W2337602892 @default.
- W2413473403 hasRelatedWork W2932370125 @default.
- W2413473403 hasRelatedWork W2952176104 @default.
- W2413473403 hasRelatedWork W2109175504 @default.
- W2413473403 hasVolume "48" @default.
- W2413473403 isParatext "false" @default.
- W2413473403 isRetracted "false" @default.
- W2413473403 magId "2413473403" @default.
- W2413473403 workType "article" @default.