Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313236714> ?p ?o ?g. }
- W4313236714 endingPage "1712" @default.
- W4313236714 startingPage "1697" @default.
- W4313236714 abstract "Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme childhood obesity. The mutation places ASIP under control of the ubiquitously active itchy E3 ubiquitin protein ligase promoter, driving the generation of ASIP in patient-derived native and induced pluripotent stem cells for all germ layers and hypothalamic-like neurons. The patient's phenotype of early-onset obesity, overgrowth, red hair and hyperinsulinemia is concordant with that of mutant mice ubiquitously expressing the homolog nonagouti. ASIP represses melanocyte-stimulating hormone-mediated activation as a melanocortin receptor antagonist, which might affect eating behavior, energy expenditure, adipocyte differentiation and pigmentation, as observed in the index patient. As the type of mutation escapes standard genetic screening algorithms, we rescreened the Leipzig Childhood Obesity cohort of 1,745 patients and identified four additional patients with the identical mutation, ectopic ASIP expression and a similar phenotype. Taken together, our data indicate that ubiquitous ectopic ASIP expression is likely a monogenic cause of human obesity." @default.
- W4313236714 created "2023-01-06" @default.
- W4313236714 creator A5002537622 @default.
- W4313236714 creator A5003189779 @default.
- W4313236714 creator A5006746727 @default.
- W4313236714 creator A5022408562 @default.
- W4313236714 creator A5040638450 @default.
- W4313236714 creator A5044451947 @default.
- W4313236714 creator A5044869014 @default.
- W4313236714 creator A5045146753 @default.
- W4313236714 creator A5046533579 @default.
- W4313236714 creator A5057714703 @default.
- W4313236714 creator A5063432504 @default.
- W4313236714 creator A5063460244 @default.
- W4313236714 creator A5065543516 @default.
- W4313236714 creator A5066221580 @default.
- W4313236714 creator A5073471236 @default.
- W4313236714 creator A5074684510 @default.
- W4313236714 creator A5076675664 @default.
- W4313236714 creator A5081332593 @default.
- W4313236714 date "2022-12-19" @default.
- W4313236714 modified "2023-10-14" @default.
- W4313236714 title "Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity" @default.
- W4313236714 cites W1507780376 @default.
- W4313236714 cites W1926347494 @default.
- W4313236714 cites W1976938970 @default.
- W4313236714 cites W1988992600 @default.
- W4313236714 cites W1995217408 @default.
- W4313236714 cites W1995363107 @default.
- W4313236714 cites W2000241372 @default.
- W4313236714 cites W2011187106 @default.
- W4313236714 cites W2012799716 @default.
- W4313236714 cites W2017690914 @default.
- W4313236714 cites W2017747223 @default.
- W4313236714 cites W2020823827 @default.
- W4313236714 cites W2021341670 @default.
- W4313236714 cites W2025764988 @default.
- W4313236714 cites W2031849961 @default.
- W4313236714 cites W2036468147 @default.
- W4313236714 cites W2057981041 @default.
- W4313236714 cites W2060795531 @default.
- W4313236714 cites W2076070658 @default.
- W4313236714 cites W2082314612 @default.
- W4313236714 cites W2084458714 @default.
- W4313236714 cites W2093728847 @default.
- W4313236714 cites W2094222502 @default.
- W4313236714 cites W2104005232 @default.
- W4313236714 cites W2106192637 @default.
- W4313236714 cites W2108234281 @default.
- W4313236714 cites W2117131162 @default.
- W4313236714 cites W2117403647 @default.
- W4313236714 cites W2124985265 @default.
- W4313236714 cites W2132885074 @default.
- W4313236714 cites W2146456530 @default.
- W4313236714 cites W2152482541 @default.
- W4313236714 cites W2155580582 @default.
- W4313236714 cites W2163974722 @default.
- W4313236714 cites W2181632153 @default.
- W4313236714 cites W2510875395 @default.
- W4313236714 cites W2522909406 @default.
- W4313236714 cites W2565287418 @default.
- W4313236714 cites W2747259102 @default.
- W4313236714 cites W2755765743 @default.
- W4313236714 cites W2806545464 @default.
- W4313236714 cites W2902741907 @default.
- W4313236714 cites W2909144619 @default.
- W4313236714 cites W2909894437 @default.
- W4313236714 cites W2940057741 @default.
- W4313236714 cites W2945535846 @default.
- W4313236714 cites W2946221835 @default.
- W4313236714 cites W2965632554 @default.
- W4313236714 cites W2981256618 @default.
- W4313236714 cites W3011583246 @default.
- W4313236714 cites W3031986712 @default.
- W4313236714 cites W3093966889 @default.
- W4313236714 cites W3095455148 @default.
- W4313236714 cites W3129249620 @default.
- W4313236714 cites W3156301700 @default.
- W4313236714 cites W3157989579 @default.
- W4313236714 cites W3164363802 @default.
- W4313236714 cites W3174805651 @default.
- W4313236714 cites W4235479662 @default.
- W4313236714 cites W4288084869 @default.
- W4313236714 cites W4295517558 @default.
- W4313236714 doi "https://doi.org/10.1038/s42255-022-00703-9" @default.
- W4313236714 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36536132" @default.
- W4313236714 hasPublicationYear "2022" @default.
- W4313236714 type Work @default.
- W4313236714 citedByCount "6" @default.
- W4313236714 countsByYear W43132367142022 @default.
- W4313236714 countsByYear W43132367142023 @default.
- W4313236714 crossrefType "journal-article" @default.
- W4313236714 hasAuthorship W4313236714A5002537622 @default.
- W4313236714 hasAuthorship W4313236714A5003189779 @default.
- W4313236714 hasAuthorship W4313236714A5006746727 @default.
- W4313236714 hasAuthorship W4313236714A5022408562 @default.
- W4313236714 hasAuthorship W4313236714A5040638450 @default.
- W4313236714 hasAuthorship W4313236714A5044451947 @default.