{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:24Z","timestamp":1791353544205,"version":"4.3.1"},"reference-count":16,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2015,5,8]],"date-time":"2015-05-08T00:00:00Z","timestamp":1431043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0126648","type":"journal-article","created":{"date-parts":[[2015,5,8]],"date-time":"2015-05-08T18:07:50Z","timestamp":1431108470000},"page":"e0126648","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":17,"title":["Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue"],"prefix":"10.1371","volume":"10","author":[{"given":"Claire","family":"Rochette","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Jullien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandru","family":"Saveanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Caldagues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Bergada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Braslavsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Pfeifer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Reynaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Herman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Brue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Enjalbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Castinetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,5,8]]},"reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1530\/JOE-12-0229","article-title":"Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors","volume":"215","author":"DC de Moraes","year":"2012","journal-title":"The Journal of endocrinology"},{"issue":"7","key":"ref2","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1210\/er.2009-0008","article-title":"Genetic regulation of pituitary gland development in human and mouse","volume":"30","author":"D Kelberman","year":"2009","journal-title":"Endocrine reviews"},{"issue":"Suppl 1","key":"ref3","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1530\/EJE-07-0156","article-title":"Hypothalamic and pituitary development: novel insights into the aetiology","volume":"157","author":"D Kelberman","year":"2007","journal-title":"European journal of endocrinology \/ European Federation of Endocrine Societies"},{"issue":"18","key":"ref4","doi-asserted-by":"crossref","first-page":"4229","DOI":"10.1242\/dev.129.18.4229","article-title":"Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia","volume":"129","author":"LT Raetzman","year":"2002","journal-title":"Development"},{"issue":"5344","key":"ref5","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1126\/science.278.5344.1809","article-title":"Multistep control of pituitary organogenesis","volume":"278","author":"HZ Sheng","year":"1997","journal-title":"Science"},{"issue":"1","key":"ref6","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1006\/geno.1997.4852","article-title":"Lhx4, a LIM homeobox gene","volume":"44","author":"T Yamashita","year":"1997","journal-title":"Genomics"},{"issue":"12","key":"ref7","doi-asserted-by":"crossref","first-page":"2876","DOI":"10.1002\/j.1460-2075.1994.tb06582.x","article-title":"Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival","volume":"13","author":"H Li","year":"1994","journal-title":"The EMBO journal"},{"issue":"7","key":"ref8","doi-asserted-by":"crossref","first-page":"2790","DOI":"10.1210\/jc.2007-2389","article-title":"A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism","volume":"93","author":"F Castinetti","year":"2008","journal-title":"The Journal of clinical endocrinology and metabolism"},{"issue":"9","key":"ref9","doi-asserted-by":"crossref","first-page":"3329","DOI":"10.1210\/jc.2005-2173","article-title":"Genetic screening of combined pituitary hormone deficiency: experience in 195 patients","volume":"91","author":"R Reynaud","year":"2006","journal-title":"The Journal of clinical endocrinology and metabolism"},{"issue":"9","key":"ref10","doi-asserted-by":"crossref","first-page":"5456","DOI":"10.1210\/jc.2004-2332","article-title":"Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects","volume":"90","author":"K Machinis","year":"2005","journal-title":"The Journal of clinical endocrinology and metabolism"},{"issue":"3","key":"ref11","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1210\/jc.2007-1525","article-title":"Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies","volume":"93","author":"RW Pfaeffle","year":"2008","journal-title":"The Journal of clinical endocrinology and metabolism"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1507\/endocrj.K06-200","article-title":"A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica","volume":"54","author":"T Tajima","year":"2007","journal-title":"Endocrine journal"},{"issue":"7","key":"ref13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1055\/s-0029-1225612","article-title":"A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency","volume":"118","author":"T Tajima","year":"2010","journal-title":"Experimental and clinical endocrinology & diabetes: official journal, German Society of Endocrinology [and] German Diabetes Association"},{"issue":"9","key":"ref14","doi-asserted-by":"crossref","first-page":"e46008","DOI":"10.1371\/journal.pone.0046008","article-title":"Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism","volume":"7","author":"M Takagi","year":"2012","journal-title":"PloS one"},{"issue":"11","key":"ref15","doi-asserted-by":"crossref","first-page":"5779","DOI":"10.1210\/jc.2003-032124","article-title":"A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies","volume":"89","author":"R Reynaud","year":"2004","journal-title":"The Journal of clinical endocrinology and metabolism"},{"issue":"8","key":"ref16","doi-asserted-by":"crossref","first-page":"4880","DOI":"10.1210\/jc.2005-0119","article-title":"An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain","volume":"90","author":"R Reynaud","year":"2005","journal-title":"The Journal of clinical endocrinology and metabolism"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0126648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,7]],"date-time":"2022-05-07T15:35:40Z","timestamp":1651937740000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0126648"}},"subtitle":[],"editor":[{"given":"Raul M.","family":"Luque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,5,8]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2015,5,8]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0126648","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,8]]}}}