Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146999952> ?p ?o ?g. }
- W2146999952 endingPage "4446" @default.
- W2146999952 startingPage "4442" @default.
- W2146999952 abstract "The prevalence of mutations within and in the flanking regions of the gene encoding the melanocortin 4 receptor was investigated in severely obese and normal-weight subjects from the Swedish Obese Subjects study, the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family study, and a Memphis cohort. A total of 433 white and 95 black subjects (94% females) were screened for mutations by direct sequencing. Three previously described missense variants and nine novel (three missense, six silent) variants were detected. None of them showed significant association with obesity or related phenotypes. In addition, two novel deletions were found in two heterozygous obese women: a -65_-64delTG mutation within the 5' noncoding region and a 171delC frameshift mutation predicted to result in a truncated nonfunctional receptor. No pathogenic mutations were found among obese blacks or nonobese controls. Furthermore, none of the null mutations found in other populations was present in this sample. In conclusion, our results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity." @default.
- W2146999952 created "2016-06-24" @default.
- W2146999952 creator A5027220505 @default.
- W2146999952 creator A5039191725 @default.
- W2146999952 creator A5043384797 @default.
- W2146999952 creator A5044819301 @default.
- W2146999952 creator A5057810981 @default.
- W2146999952 creator A5058348575 @default.
- W2146999952 creator A5060568681 @default.
- W2146999952 creator A5068392916 @default.
- W2146999952 creator A5070297961 @default.
- W2146999952 creator A5089224316 @default.
- W2146999952 creator A5090652272 @default.
- W2146999952 creator A5091749752 @default.
- W2146999952 date "2002-10-01" @default.
- W2146999952 modified "2023-09-23" @default.
- W2146999952 title "Melanocortin 4 Receptor Sequence Variations Are Seldom a Cause of Human Obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis Cohort" @default.
- W2146999952 cites W1503357410 @default.
- W2146999952 cites W1539401343 @default.
- W2146999952 cites W1549372716 @default.
- W2146999952 cites W1593075597 @default.
- W2146999952 cites W1597982565 @default.
- W2146999952 cites W1606342288 @default.
- W2146999952 cites W1608564261 @default.
- W2146999952 cites W1868738362 @default.
- W2146999952 cites W1966441882 @default.
- W2146999952 cites W1991894913 @default.
- W2146999952 cites W1996713062 @default.
- W2146999952 cites W2003822998 @default.
- W2146999952 cites W2010142606 @default.
- W2146999952 cites W2025846514 @default.
- W2146999952 cites W2031928161 @default.
- W2146999952 cites W2037447899 @default.
- W2146999952 cites W2055570012 @default.
- W2146999952 cites W2057089327 @default.
- W2146999952 cites W2065389660 @default.
- W2146999952 cites W2066690075 @default.
- W2146999952 cites W2073946299 @default.
- W2146999952 cites W2074888255 @default.
- W2146999952 cites W2080831128 @default.
- W2146999952 cites W2081964248 @default.
- W2146999952 cites W2083116048 @default.
- W2146999952 cites W2085679956 @default.
- W2146999952 cites W2101852419 @default.
- W2146999952 cites W2118192748 @default.
- W2146999952 cites W2129221666 @default.
- W2146999952 cites W2140784970 @default.
- W2146999952 cites W2143604340 @default.
- W2146999952 cites W2147888023 @default.
- W2146999952 cites W2153370001 @default.
- W2146999952 cites W2154926531 @default.
- W2146999952 cites W2411556559 @default.
- W2146999952 cites W27003264 @default.
- W2146999952 doi "https://doi.org/10.1210/jc.2002-020568" @default.
- W2146999952 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12364415" @default.
- W2146999952 hasPublicationYear "2002" @default.
- W2146999952 type Work @default.
- W2146999952 sameAs 2146999952 @default.
- W2146999952 citedByCount "116" @default.
- W2146999952 countsByYear W21469999522012 @default.
- W2146999952 countsByYear W21469999522013 @default.
- W2146999952 countsByYear W21469999522014 @default.
- W2146999952 countsByYear W21469999522015 @default.
- W2146999952 countsByYear W21469999522016 @default.
- W2146999952 countsByYear W21469999522017 @default.
- W2146999952 countsByYear W21469999522019 @default.
- W2146999952 countsByYear W21469999522020 @default.
- W2146999952 countsByYear W21469999522021 @default.
- W2146999952 countsByYear W21469999522022 @default.
- W2146999952 crossrefType "journal-article" @default.
- W2146999952 hasAuthorship W2146999952A5027220505 @default.
- W2146999952 hasAuthorship W2146999952A5039191725 @default.
- W2146999952 hasAuthorship W2146999952A5043384797 @default.
- W2146999952 hasAuthorship W2146999952A5044819301 @default.
- W2146999952 hasAuthorship W2146999952A5057810981 @default.
- W2146999952 hasAuthorship W2146999952A5058348575 @default.
- W2146999952 hasAuthorship W2146999952A5060568681 @default.
- W2146999952 hasAuthorship W2146999952A5068392916 @default.
- W2146999952 hasAuthorship W2146999952A5070297961 @default.
- W2146999952 hasAuthorship W2146999952A5089224316 @default.
- W2146999952 hasAuthorship W2146999952A5090652272 @default.
- W2146999952 hasAuthorship W2146999952A5091749752 @default.
- W2146999952 hasConcept C104317684 @default.
- W2146999952 hasConcept C126322002 @default.
- W2146999952 hasConcept C134018914 @default.
- W2146999952 hasConcept C170493617 @default.
- W2146999952 hasConcept C2777241137 @default.
- W2146999952 hasConcept C2779993316 @default.
- W2146999952 hasConcept C29906990 @default.
- W2146999952 hasConcept C43295716 @default.
- W2146999952 hasConcept C501734568 @default.
- W2146999952 hasConcept C511355011 @default.
- W2146999952 hasConcept C54355233 @default.
- W2146999952 hasConcept C71924100 @default.
- W2146999952 hasConcept C72563966 @default.
- W2146999952 hasConcept C75563809 @default.
- W2146999952 hasConcept C86803240 @default.
- W2146999952 hasConceptScore W2146999952C104317684 @default.