{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:45:25Z","timestamp":1791477925325,"version":"4.3.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","award":["#11632"],"award-info":[{"award-number":["#11632"]}],"id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neural Transm"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1007\/s00702-019-02056-2","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T12:03:07Z","timestamp":1565092987000},"page":"1505-1511","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology"],"prefix":"10.1007","volume":"126","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5953-2728","authenticated-orcid":false,"given":"Thierry","family":"Bienvenu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Lebrun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philibert","family":"Duriez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Gorwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Ramoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"2056_CR1","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1016\/j.ajhg.2012.03.021","volume":"90","author":"L Abbasi-Moheb","year":"2012","unstructured":"Abbasi-Moheb L, Mertel S, Gonsior M et al (2012) Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet 90:847\u2013855","journal-title":"Am J Hum Genet"},{"key":"2056_CR2","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1186\/1471-2350-12-75","volume":"12","author":"A Aneiros-Guerrero","year":"2011","unstructured":"Aneiros-Guerrero A, Lendinez AM, Palomares AR et al (2011) Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. BMC Med Genet 12:75","journal-title":"BMC Med Genet"},{"key":"2056_CR3","doi-asserted-by":"publisher","first-page":"2319","DOI":"10.1093\/jn\/133.7.2319","volume":"133","author":"N Bellissimo","year":"2003","unstructured":"Bellissimo N, Anderson GH (2003) Cholecystokinin-A receptors are involved in food intake suppression in rats after intake of all fats and carbohydrates tested. J Nutr 133:2319\u20132325","journal-title":"J Nutr"},{"key":"2056_CR4","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1038\/mp.2013.187","volume":"19","author":"V Boraska","year":"2014","unstructured":"Boraska V, Franklin CS, Floyd JA et al (2014) A genome-wide association study of anorexia nervosa. Mol Psychiatry 19:1085\u20131094","journal-title":"Mol Psychiatry"},{"key":"2056_CR5","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.psc.2018.10.007","volume":"42","author":"CM Bulik","year":"2019","unstructured":"Bulik CM, Blake L, Austin J (2019) Genetics of eating disorders: what the clinician needs to know. Psychiatr Clin North Am 42:59\u201373","journal-title":"Psychiatr Clin North Am"},{"key":"2056_CR6","doi-asserted-by":"publisher","first-page":"2960","DOI":"10.1093\/hmg\/ddt150","volume":"22","author":"Y Cheng","year":"2013","unstructured":"Cheng Y, Quinn JF, Weiss LA (2013) An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. Hum Mol Genet 22:2960\u20132972","journal-title":"Hum Mol Genet"},{"key":"2056_CR7","doi-asserted-by":"publisher","first-page":"4706","DOI":"10.1172\/JCI71400","volume":"123","author":"H Cui","year":"2013","unstructured":"Cui H, Moore J, Ashimi SS et al (2013) Eating disorder predisposition is associated with ESRRA and HDAC4 mutations. J Clin Invest 123:4706\u20134713","journal-title":"J Clin Invest"},{"key":"2056_CR8","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1038\/s41588-019-0433-8","volume":"51","author":"RN Doan","year":"2019","unstructured":"Doan RN, Lim ET, De Rubeis S et al (2019) Recessive gene disruptions in autism spectrum disorder. Nat Genet 51:1092\u20131098","journal-title":"Nat Genet"},{"key":"2056_CR9","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1176\/appi.ajp.2017.16121402","volume":"174","author":"L Duncan","year":"2017","unstructured":"Duncan L, Yilmaz Z, Gaspar H et al (2017) Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa. Am J Psychiatry 174:850\u2013858","journal-title":"Am J Psychiatry"},{"key":"2056_CR10","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.scr.2017.03.001","volume":"20","author":"M Elsafadi","year":"2017","unstructured":"Elsafadi M, Manikandan M, Alajez NM et al (2017) MicroRNA-4739 regulates osteogenic and adipocytic differentiation of immortalized human bone marrow stromal cells via targeting LRP3. Stem Cell Res 20:94\u2013104","journal-title":"Stem Cell Res"},{"key":"2056_CR11","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.pharep.2017.01.009","volume":"69","author":"S Gajjar","year":"2017","unstructured":"Gajjar S, Patel BM (2017) Neuromedin: an insight into its types, receptors and therapeutic opportunities. Pharmacol Rep 69:438\u2013447","journal-title":"Pharmacol Rep"},{"key":"2056_CR12","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1097\/JCP.0b013e3182970469","volume":"33","author":"G Gervasini","year":"2013","unstructured":"Gervasini G, Gordillo I, Garc\u00eda-Herr\u00e1iz A, Flores I, Jim\u00e9nez M, Monge M, Carrillo JA (2013) Influence of dopamine polymorphisms on the risk for anorexia nervosa and associated psychopathological features. J Clin Psychopharmacol 33:551\u2013555","journal-title":"J Clin Psychopharmacol"},{"key":"2056_CR13","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.ydbio.2008.11.007","volume":"326","author":"JD Hilario","year":"2009","unstructured":"Hilario JD, Rodino-Klapac LR, Wang C, Beattie CE (2009) Semaphorin 5A is a bifunctional axon guidance cue for axial motoneurons in vivo. Dev Biol 326:190\u2013200","journal-title":"Dev Biol"},{"key":"2056_CR14","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1111\/j.1365-2052.2007.01692.x","volume":"39","author":"RD Houston","year":"2008","unstructured":"Houston RD, Rance KA, Sutcliffe E, Archibald AL, Haley CS (2008) The cholecystokinin type A receptor g.179A\u2009>\u2009G polymorphism affects feeding rate. Anim Genet 39:187\u2013188","journal-title":"Anim Genet"},{"key":"2056_CR15","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1038\/mp.2017.88","volume":"23","author":"LM Huckins","year":"2018","unstructured":"Huckins LM, Hatzikotoulas K, Southam L et al (2018) Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Mol Psychiatry 23:1169\u20131180","journal-title":"Mol Psychiatry"},{"issue":"3","key":"2056_CR16","doi-asserted-by":"publisher","first-page":"e0119752","DOI":"10.1371\/journal.pone.0119752","volume":"10","author":"JE Huffman","year":"2015","unstructured":"Huffman JE, Albrecht E, Teumer A et al (2015) Modulation of genetic associations with serum urate levels by body-mass-index in humans. PLoS One 10(3):e0119752","journal-title":"PLoS One"},{"key":"2056_CR17","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.yhbeh.2007.08.002","volume":"52","author":"M J\u00e1szber\u00e9nyi","year":"2007","unstructured":"J\u00e1szber\u00e9nyi M, Bagosi Z, Thurz\u00f3 B, F\u00f6ldesi I, Telegdy G (2007) Endocrine and behavioral effects of neuromedin S. Horm Behav 52:631\u2013639","journal-title":"Horm Behav"},{"key":"2056_CR18","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1007\/s00894-015-2868-x","volume":"22","author":"N Jatana","year":"2016","unstructured":"Jatana N, Thukral L, Latha N (2016) Structural signatures of DRD4 mutants revealed using molecular dynamics simulations: implications for drug targeting. J Mol Model 22:14","journal-title":"J Mol Model"},{"key":"2056_CR19","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ajhg.2018.11.008","volume":"104","author":"G Kichaev","year":"2019","unstructured":"Kichaev G, Bhatia G, Loh PR et al (2019) Leveraging polygenic functional enrichment to improve GWAS power. Am J Hum Genet 104:65\u201375","journal-title":"Am J Hum Genet"},{"key":"2056_CR20","doi-asserted-by":"publisher","first-page":"1514","DOI":"10.1038\/s41588-018-0222-9","volume":"50","author":"D Klarin","year":"2018","unstructured":"Klarin D, Damrauer SM, Cho K et al (2018) Genetics of blood lipids among\u2009~\u2009300,000 multi-ethnic participants of the Million Veteran Program. Nat Genet 50:1514\u20131523","journal-title":"Nat Genet"},{"key":"2056_CR21","doi-asserted-by":"publisher","first-page":"677","DOI":"10.3389\/fendo.2018.00677","volume":"9","author":"H Liu","year":"2018","unstructured":"Liu H, Wang W, Zhang C, Xu C, Duan H, Tian X, Zhang D (2018) Heritability and genome-wide association study of plasma cholesterol in chinese adult twins. Front Endocrinol 9:677","journal-title":"Front Endocrinol"},{"key":"2056_CR22","doi-asserted-by":"publisher","first-page":"e0181556","DOI":"10.1371\/journal.pone.0181556","volume":"12","author":"M Lutter","year":"2017","unstructured":"Lutter M, Bahl E, Hannah C et al (2017) Novel and ultra-rare damaging variants in neuropeptide signaling are associated with disordered eating behaviors. PLoS One 12:e0181556","journal-title":"PLoS One"},{"key":"2056_CR23","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1038\/ejhg.2015.211","volume":"24","author":"AL Mosca-Boidron","year":"2016","unstructured":"Mosca-Boidron AL, Gueneau L, Huguet G et al (2016) A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. Eur J Hum Genet 24:838\u2013843","journal-title":"Eur J Hum Genet"},{"key":"2056_CR24","doi-asserted-by":"publisher","first-page":"184","DOI":"10.3389\/fendo.2019.00184","volume":"10","author":"NG Norwtiz","year":"2019","unstructured":"Norwtiz NG, Mota AS, Misra M, Ackerman KE (2019) LRP5, bone density, and mechanical stress: a case report and literature review. Front Endocrinol (Lausanne) 10:184","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2056_CR25","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1097\/MOP.0000000000000508","volume":"29","author":"L Robinson","year":"2017","unstructured":"Robinson L, Micali N, Misra M (2017) Eating disorders and bone metabolism in women. Curr Opin Pediatr 29:488\u2013496","journal-title":"Curr Opin Pediatr"},{"key":"2056_CR26","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/mp.2010.107","volume":"16","author":"K Wang","year":"2011","unstructured":"Wang K, Zhang H, Bloss CS et al (2011) A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Mol Psychiatry 16:949\u2013959","journal-title":"Mol Psychiatry"},{"key":"2056_CR27","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0439-2","author":"HJ Watson","year":"2019","unstructured":"Watson HJ, Yilmaz Z, Thornton LM et al (2019) Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nat Genet. \n                    https:\/\/doi.org\/10.1038\/s41588-019-0439-2\n                    \n                  \n                           (Epub ahead of print PubMed PMID: 31308545)","journal-title":"Nat Genet"},{"key":"2056_CR28","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.bone.2017.03.044","volume":"102","author":"BO Williams","year":"2017","unstructured":"Williams BO (2017) LRP5: from bedside to bench to bone. Bone 102:26\u201330","journal-title":"Bone"},{"key":"2056_CR29","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1016\/S0361-9230(00)00407-X","volume":"53","author":"Y Yamamoto","year":"2000","unstructured":"Yamamoto Y, Akiyoshi J, Kiyota A, Katsuragi S, Tsutsumi T, Isogawa K, Nagayama H (2000) Increased anxiety behavior in OLETF rats without cholecystokinin-A receptor. Brain Res Bull 53:789\u2013792","journal-title":"Brain Res Bull"},{"key":"2056_CR30","doi-asserted-by":"publisher","first-page":"9352","DOI":"10.1128\/MCB.01148-06","volume":"26","author":"H Zeng","year":"2006","unstructured":"Zeng H, Gragerov A, Hohmann JG et al (2006) Neuromedin U receptor 2-deficient mice display differential responses in sensory perception, stress, and feeding. Mol Cell Biol 26:9352\u20139363","journal-title":"Mol Cell Biol"}],"container-title":["Journal of Neural Transmission"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-019-02056-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00702-019-02056-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-019-02056-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T23:24:08Z","timestamp":1596583448000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00702-019-02056-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,6]]},"references-count":30,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["2056"],"URL":"https:\/\/doi.org\/10.1007\/s00702-019-02056-2","relation":{},"ISSN":["0300-9564","1435-1463"],"issn-type":[{"value":"0300-9564","type":"print"},{"value":"1435-1463","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,6]]},"assertion":[{"value":"14 March 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 July 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Philip Gorwood received during the last 5\u00a0years fees for presentations at congresses or participation in scientific boards from Alcediag-Alcen, AstraZeneca, Bristol-Myers-Squibb, GSK, Janssen, Lilly, Lundbeck, Otsuka and Servier, none of them being related to the present study. All other authors declare no competing interests. GP is not employed by a commercial company. Other authors report no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}