{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:44:47Z","timestamp":1791326687348,"version":"4.3.1"},"reference-count":36,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biochimie"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1016\/j.biochi.2012.05.010","type":"journal-article","created":{"date-parts":[[2012,5,22]],"date-time":"2012-05-22T11:05:09Z","timestamp":1337684709000},"page":"2111-2115","source":"Crossref","is-referenced-by-count":111,"title":["Leptin and leptin receptor-related monogenic obesity"],"prefix":"10.1016","volume":"94","author":[{"given":"Beatrice","family":"Dubern","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Clement","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.biochi.2012.05.010_bib1","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.peptides.2005.01.030","article-title":"Melanocortin-4 receptors, beta-MSH and leptin: key elements in the satiety pathway","volume":"27","author":"Harrold","year":"2006","journal-title":"Peptides"},{"key":"10.1016\/j.biochi.2012.05.010_bib2","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/43185","article-title":"Congenital leptin deficiency is associated with severe early-onset obesity in humans","volume":"387","author":"Montague","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.biochi.2012.05.010_bib3","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ng0398-213","article-title":"A\u00a0leptin missense mutation associated with hypogonadism and morbid obesity","volume":"18","author":"Strobel","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.biochi.2012.05.010_bib4","doi-asserted-by":"crossref","first-page":"e3098","DOI":"10.1371\/journal.pone.0003098","article-title":"Leptin replacement improves cognitive development","volume":"8","author":"Paz-Filho","year":"2008","journal-title":"PLoS One"},{"key":"10.1016\/j.biochi.2012.05.010_bib5","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ymgme.2009.04.002","article-title":"A\u00a0novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient","volume":"97","author":"Mazen","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib6","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/32911","article-title":"A\u00a0mutation in the human leptin receptor gene causes obesity and pituitary dysfunction","volume":"392","author":"Clement","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.biochi.2012.05.010_bib7","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1056\/NEJMoa063988","article-title":"Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor","volume":"356","author":"Farooqi","year":"2007","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.biochi.2012.05.010_bib8","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ymgme.2010.12.013","article-title":"Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity","volume":"102","author":"Mazen","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib9","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/372425a0","article-title":"Positional cloning of the mouse obese gene and its human homologue","volume":"372","author":"Zhang","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.biochi.2012.05.010_bib10","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1172\/JCI0215693","article-title":"Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine\/metabolic dysfunction of human congenital leptin deficiency","volume":"110","author":"Farooqi","year":"2002","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.biochi.2012.05.010_bib11","doi-asserted-by":"crossref","first-page":"4821","DOI":"10.1210\/jc.2004-0376","article-title":"Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy","volume":"89","author":"Gibson","year":"2004","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib12","doi-asserted-by":"crossref","first-page":"3686","DOI":"10.1210\/jc.84.10.3686","volume":"84","author":"Ozata","year":"1999","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib13","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1146\/annurev.med.56.062904.144924","article-title":"Monogenic obesity in humans","volume":"56","author":"Farooqi","year":"2005","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.biochi.2012.05.010_bib14","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1467-789X.2007.00315.x","article-title":"Genetic factors in human obesity","volume":"8","author":"Farooqi","year":"2007","journal-title":"Obes. Rev."},{"key":"10.1016\/j.biochi.2012.05.010_bib15","doi-asserted-by":"crossref","first-page":"4531","DOI":"10.1073\/pnas.0308767101","article-title":"Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults","volume":"101","author":"Licinio","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"10.1016\/j.biochi.2012.05.010_bib16","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1079\/PNS19980090","article-title":"Development of food acceptance patterns in the first years of life","volume":"57","author":"Birch","year":"1998","journal-title":"Proc. Nutr. Soc."},{"key":"10.1016\/j.biochi.2012.05.010_bib17","first-page":"S50","article-title":"Behavior and lifestyle: approaches to treatment of obesity","volume":"157","author":"Williamson","year":"2005","journal-title":"J.\u00a0La. State Med. Soc."},{"key":"10.1016\/j.biochi.2012.05.010_bib18","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1016\/0092-8674(95)90151-5","article-title":"Identification and expression cloning of a leptin receptor, OB-R","volume":"83","author":"Tartaglia","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.biochi.2012.05.010_bib19","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1056\/NEJMc1200116","article-title":"Pregnancy in a woman with a leptin-receptor mutation","volume":"366","author":"Nizard","year":"2012","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.biochi.2012.05.010_bib20","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0031-6865(99)00050-3","article-title":"The ciliary neurotrophic factor and its receptor, CNTFR alpha","volume":"74","author":"Sleeman","year":"2000","journal-title":"Pharm. Acta Helv."},{"key":"10.1016\/j.biochi.2012.05.010_bib21","first-page":"696","article-title":"Axokine (Regeneron)","volume":"6","author":"Preti","year":"2003","journal-title":"I.\u00a0Drugs"},{"key":"10.1016\/j.biochi.2012.05.010_bib22","doi-asserted-by":"crossref","first-page":"4633","DOI":"10.1210\/jc.2003-030502","article-title":"Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10","volume":"88","author":"Krude","year":"2003","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib23","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.2337\/db06-0214","article-title":"Heterozygosity for a POMC-null mutation and increased obesity risk in humans","volume":"55","author":"Farooqi","year":"2006","journal-title":"Diabetes"},{"key":"10.1016\/j.biochi.2012.05.010_bib24","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1016\/j.peptides.2004.12.031","article-title":"Gene polymorphisms and their effects in the melanocortin system","volume":"26","author":"Carroll","year":"2005","journal-title":"Peptides"},{"key":"10.1016\/j.biochi.2012.05.010_bib25","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1203\/PDR.0b013e31815ed62b","article-title":"Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain","volume":"63","author":"Dubern","year":"2008","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.biochi.2012.05.010_bib26","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1172\/JCI200318784","article-title":"Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency","volume":"112","author":"Jackson","year":"2003","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.biochi.2012.05.010_bib27","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1093\/hmg\/9.1.101","article-title":"Profound obesity associated with a balanced translocation that disrupts the SIM1 gene","volume":"9","author":"Holder","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.biochi.2012.05.010_bib28","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1093\/hmg\/10.14.1465","article-title":"Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus","volume":"10","author":"Michaud","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.biochi.2012.05.010_bib29","doi-asserted-by":"crossref","first-page":"4542","DOI":"10.1210\/en.2006-0453","article-title":"SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake","volume":"147","author":"Kublaoui","year":"2006","journal-title":"Endocrinology"},{"key":"10.1016\/j.biochi.2012.05.010_bib30","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1093\/emboj\/19.6.1290","article-title":"BDNF regulates eating behavior and locomotor activity in mice","volume":"19","author":"Kernie","year":"2000","journal-title":"EMBO. J."},{"key":"10.1016\/j.biochi.2012.05.010_bib31","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1038\/nn1073","article-title":"Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor","volume":"6","author":"Xu","year":"2003","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.biochi.2012.05.010_bib32","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/nn1336","article-title":"A\u00a0de novo mutation affecting human TrkB associated with severe obesity and developmental delay","volume":"7","author":"Yeo","year":"2004","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.biochi.2012.05.010_bib33","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/sj.ijo.0803390","article-title":"Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity","volume":"31","author":"Gray","year":"2007","journal-title":"Int. J. Obes. (Lond)"},{"key":"10.1016\/j.biochi.2012.05.010_bib34","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1172\/JCI9397","article-title":"Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency","volume":"106","author":"Farooqi","year":"2000","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.biochi.2012.05.010_bib35","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1210\/jc.2003-031993","article-title":"A\u00a0homozygous null mutation delineates the role of the melanocortin-4 receptor in humans","volume":"89","author":"Lubrano-Berthelier","year":"2004","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.biochi.2012.05.010_bib36","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.jpeds.2007.01.041","article-title":"Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity","volume":"150","author":"Dubern","year":"2007","journal-title":"J.\u00a0Pediatr."}],"container-title":["Biochimie"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300908412001988?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300908412001988?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,23]],"date-time":"2018-11-23T04:20:40Z","timestamp":1542946840000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0300908412001988"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":36,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S0300908412001988"],"URL":"https:\/\/doi.org\/10.1016\/j.biochi.2012.05.010","relation":{},"ISSN":["0300-9084"],"issn-type":[{"value":"0300-9084","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}