{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T11:13:14Z","timestamp":1715425994331},"reference-count":78,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,1,1]]},"DOI":"10.1515\/jpem-2013-0019","type":"journal-article","created":{"date-parts":[[2013,5,30]],"date-time":"2013-05-30T20:33:25Z","timestamp":1369946005000},"source":"Crossref","is-referenced-by-count":1,"title":["A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands"],"prefix":"10.1515","volume":"26","author":[{"given":"Meropi","family":"Toumba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassos","family":"Neocleous","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christos","family":"Shammas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violetta","family":"Anastasiadou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Allgrove","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonidas A.","family":"Phylactou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicos","family":"Skordis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref481","first-page":"1","article-title":"disease of the clinical radiological and molecular data of families and implications for diagnosis and treatment","volume":"24","author":"Janssens","year":"2006","journal-title":"review J Med Genet"},{"key":"ref711","first-page":"559","article-title":"IS The transforming growth factor - betas multifaceted regulators of the development and maintenance of skeletal muscles motoneurons cells","author":"McLennan","year":"2002","journal-title":"Int J Dev Biol"},{"key":"ref861","first-page":"264","article-title":"in the treatment of progressive diaphyseal dysplasia disease","volume":"17","author":"Cherie","year":"1999","journal-title":"Clin Exp Rheumatol"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.9.1.73","article-title":"disease and clinical manifestations with a review of the literature","author":"Sparkes","year":"1972","journal-title":"Genetics J Med Genet"},{"key":"ref641","first-page":"474","article-title":"Latent beta structure activation","author":"Shi","year":"2011","journal-title":"Nature"},{"key":"ref11","first-page":"662","article-title":"uno raro caso di osteite simmetrica ereditaria degli arti inferiori","author":"Camurati","year":"1922"},{"key":"ref61","first-page":"823","article-title":"nerve compression in Camurati disease","author":"Hanson","year":"1995","journal-title":"Ann"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/jbmr.283","article-title":"disease unique variant featuring a novel mutation in TGFbeta encoding transforming growth factor beta and a missense change in TNFSF encoding RANK ligand","volume":"26","author":"Whyte","year":"2011","journal-title":"J Bone Miner Res"},{"key":"ref871","first-page":"98","article-title":"Mechanisms of glucocorticoid action in bone","author":"Canalis","year":"2005","journal-title":"Curr Rep"},{"key":"ref291","first-page":"1","article-title":"SA Transforming growth factor - beta null mutation causes infertility in male mice associated with testosterone deficiency and sexual dysfunction","author":"Ingman","year":"2007","journal-title":"Endocrinology"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.9.1.73","article-title":"disease and clinical manifestations with a review of the literature","author":"Sparkes","year":"1972","journal-title":"Genetics J Med Genet"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1089\/thy.2007.0303","article-title":"Role of transforming growth factor beta in the regulation of thyroid function and growth","volume":"19","author":"Pisarev MA","year":"2009","journal-title":"Thyroid"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/jbmr.283","article-title":"disease unique variant featuring a novel mutation in TGFbeta encoding transforming growth factor beta and a missense change in TNFSF encoding RANK ligand","volume":"26","author":"Whyte","year":"2011","journal-title":"J Bone Miner Res"},{"key":"ref581","first-page":"13","article-title":"of the gene causing diaphyseal dysplasia Camurati - Engelmann to chromosome q","volume":"19","author":"Janssens","year":"2000","journal-title":"Localisation J Med Genet"},{"key":"ref451","first-page":"662","article-title":"uno raro caso di osteite simmetrica ereditaria degli arti inferiori","author":"Camurati","year":"1922"},{"key":"ref841","first-page":"1","article-title":"No association between the TGF beta Leu Pro polymorphism and osteoporosis among white women in the United States","volume":"31","author":"Kahn","year":"2003","journal-title":"Am J Med"},{"key":"ref591","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/79128","article-title":"Domain - specific mutations in result in Camurati - Engelmann disease","volume":"26","author":"Kinoshita","year":"2000","journal-title":"Nat Genet"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/er.2004-0001","article-title":"ten Transforming growth factor beta to the bone","volume":"26","author":"Janssens","year":"2005","journal-title":"Endocr Rev"},{"key":"ref661","first-page":"1","article-title":"inducible early gene knockout mice display defects in bone strength and microarchitecture","author":"Bensamoun","year":"2006","journal-title":"Bone"},{"key":"ref771","first-page":"1","article-title":"degli Uberti EC Androgen influences transforming growth factor - beta gene expression in human adrenocortical cells","author":"Zatelli","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1006\/geno.2000.6192","article-title":"Confirmation of the mapping of the Camurati - Englemann locus to q and refinement to a - cM region","volume":"19","author":"Vaughn","year":"2000","journal-title":"Genomics"},{"key":"ref01","first-page":"132","article-title":"Case for diagnosis","volume":"13","author":"Cockayne","year":"1920","journal-title":"Proc Soc Med"},{"key":"ref251","first-page":"175","article-title":"defects in latent TGF - beta binding protein null mice a role for Ltbp in TGF - beta presentation","author":"Dabovic","year":"2002","journal-title":"Bone J Endocrinol"},{"key":"ref321","first-page":"1","article-title":"dopamine receptor short isoform transforming growth factor beta - beta type II receptor interact to inhibit the growth of pituitary lactotropes","author":"Sarkar","year":"2005","journal-title":"Endocrinology"},{"key":"ref21","first-page":"39","article-title":"Ein Fall von hyperostotica sclerotisans multiplex infantilis Fortschr Geb","author":"Engelmann","year":"1929"},{"key":"ref501","first-page":"823","article-title":"nerve compression in Camurati disease","author":"Hanson","year":"1995","journal-title":"Ann"},{"key":"ref561","first-page":"1","article-title":"Marked phenotypic variability in progressive diaphyseal dysplasia Engelmann disease report of a four - generation pedigree identification of a mutation in","author":"Wallace","year":"2004","journal-title":"review Am J Med Genet"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1006\/geno.2000.6192","article-title":"Confirmation of the mapping of the Camurati - Englemann locus to q and refinement to a - cM region","volume":"19","author":"Vaughn","year":"2000","journal-title":"Genomics"},{"key":"ref121","first-page":"1","article-title":"Marked phenotypic variability in progressive diaphyseal dysplasia Engelmann disease report of a four - generation pedigree identification of a mutation in","author":"Wallace","year":"2004","journal-title":"review Am J Med Genet"},{"key":"ref201","first-page":"474","article-title":"Latent beta structure activation","author":"Shi","year":"2011","journal-title":"Nature"},{"key":"ref461","first-page":"39","article-title":"Ein Fall von hyperostotica sclerotisans multiplex infantilis Fortschr Geb","author":"Engelmann","year":"1929"},{"key":"ref681","first-page":"1","article-title":"- beta inducible early gene regulates osteoclast differentiation and survival by mediating the NFATc AKT ERK signaling pathways One","author":"Cicek","year":"2011"},{"key":"ref241","first-page":"1","article-title":"- beta inducible early gene regulates osteoclast differentiation and survival by mediating the NFATc AKT ERK signaling pathways One","author":"Cicek","year":"2011"},{"key":"ref691","first-page":"175","article-title":"defects in latent TGF - beta binding protein null mice a role for Ltbp in TGF - beta presentation","author":"Dabovic","year":"2002","journal-title":"Bone J Endocrinol"},{"key":"ref731","first-page":"1","article-title":"SA Transforming growth factor - beta null mutation causes infertility in male mice associated with testosterone deficiency and sexual dysfunction","author":"Ingman","year":"2007","journal-title":"Endocrinology"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.brainres.2010.08.036","article-title":"KT Corticotrophin - releasing factor and stress - induced inhibition of the gonadotrophin - releasing hormone pulse generator in the female","author":"Li","year":"2010","journal-title":"AM Brain Res"},{"key":"ref431","first-page":"98","article-title":"Mechanisms of glucocorticoid action in bone","author":"Canalis","year":"2005","journal-title":"Curr Rep"},{"key":"ref751","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1365-2826.1999.00336.x","article-title":"Effects of TGF beta on prolactin synthesis and secretion an in - vitro study","volume":"11","author":"Coya","year":"1999","journal-title":"J Neuroendocrinol"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"511","DOI":"10.3109\/09513590.2012.760196","article-title":"Hypothalamic amenorrhea in a Camurati - Engelmann disease a case report","volume":"29","author":"Meczekalski","year":"2013","journal-title":"Gynecol Endocrinol"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1365-2826.1999.00336.x","article-title":"Effects of TGF beta on prolactin synthesis and secretion an in - vitro study","volume":"11","author":"Coya","year":"1999","journal-title":"J Neuroendocrinol"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1210\/er.2010-0018","article-title":"Emerging roles for the transforming growth factor - beta superfamily in regulating adiposity and energy expenditure","author":"Zamani","year":"2011","journal-title":"Endocr Rev"},{"key":"ref231","first-page":"243","article-title":"Current insights into the role of transforming growth factor - beta in bone resorption","author":"Fox","year":"2005","journal-title":"Mol Cell Endocrinol"},{"key":"ref621","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/er.2004-0001","article-title":"ten Transforming growth factor beta to the bone","volume":"26","author":"Janssens","year":"2005","journal-title":"Endocr Rev"},{"key":"ref401","first-page":"1","article-title":"No association between the TGF beta Leu Pro polymorphism and osteoporosis among white women in the United States","volume":"31","author":"Kahn","year":"2003","journal-title":"Am J Med"},{"key":"ref721","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1210\/er.2010-0018","article-title":"Emerging roles for the transforming growth factor - beta superfamily in regulating adiposity and energy expenditure","author":"Zamani","year":"2011","journal-title":"Endocr Rev"},{"key":"ref261","first-page":"1","article-title":"ten Transforming growth factor - beta mutations in Camurati - Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein","volume":"24","author":"Janssens","year":"2003","journal-title":"J Biol Chem"},{"key":"ref701","first-page":"1","article-title":"ten Transforming growth factor - beta mutations in Camurati - Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein","volume":"24","author":"Janssens","year":"2003","journal-title":"J Biol Chem"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1023\/A:1026229810876","article-title":"psychological stress and environment in humans adaptation maladaptation","volume":"6","author":"Sobrinho","year":"2003","journal-title":"Pituitary"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"511","DOI":"10.3109\/09513590.2012.760196","article-title":"Hypothalamic amenorrhea in a Camurati - Engelmann disease a case report","volume":"29","author":"Meczekalski","year":"2013","journal-title":"Gynecol Endocrinol"},{"key":"ref761","first-page":"1","article-title":"dopamine receptor short isoform transforming growth factor beta - beta type II receptor interact to inhibit the growth of pituitary lactotropes","author":"Sarkar","year":"2005","journal-title":"Endocrinology"},{"key":"ref831","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1359\/jbmr.1998.13.10.1569","article-title":"Association of a polymorphism of the transforming growth factor - beta gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women","volume":"13","author":"Yamada","year":"1998","journal-title":"J Bone Miner Res"},{"key":"ref351","first-page":"1","article-title":"of endocrine and exocrine pancreas in homozygous transgenic beta","author":"Moritani","year":"2005","journal-title":"Mol Cell Endocrinol"},{"key":"ref741","first-page":"294","article-title":"Transforming growth factor beta null - mutant phenotypes in embryonic gonadal development","author":"Memon","year":"2008","journal-title":"Mol Cell Endocrinol"},{"key":"ref141","first-page":"13","article-title":"of the gene causing diaphyseal dysplasia Camurati - Engelmann to chromosome q","volume":"19","author":"Janssens","year":"2000","journal-title":"Localisation J Med Genet"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/00003072-200108000-00003","article-title":"Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia disease","volume":"26","author":"Inaoka","year":"2001","journal-title":"Clin Nucl Med"},{"key":"ref211","first-page":"1","article-title":"Dual role for beta in Factor","volume":"16","author":"Sanchez","year":"2005","journal-title":"apoptosis Cytokine Growth Rev"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U","article-title":"Intrafamilial phenotypic variability in Engelmann disease are ED and Ribbing disease the same entity","author":"Makita","year":"2000","journal-title":"Am J Med Genet"},{"key":"ref331","first-page":"1","article-title":"degli Uberti EC Androgen influences transforming growth factor - beta gene expression in human adrenocortical cells","author":"Zatelli","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"ref851","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/00003072-200108000-00003","article-title":"Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia disease","volume":"26","author":"Inaoka","year":"2001","journal-title":"Clin Nucl Med"},{"key":"ref301","first-page":"294","article-title":"Transforming growth factor beta null - mutant phenotypes in embryonic gonadal development","author":"Memon","year":"2008","journal-title":"Mol Cell Endocrinol"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"399","DOI":"10.4158\/EP.11.6.399","article-title":"Engelmann disease in conjunction with hypogonadism","volume":"11","author":"Gupta","year":"2005","journal-title":"Endocr Pract"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U","article-title":"Intrafamilial phenotypic variability in Engelmann disease are ED and Ribbing disease the same entity","author":"Makita","year":"2000","journal-title":"Am J Med Genet"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1089\/thy.2007.0303","article-title":"Role of transforming growth factor beta in the regulation of thyroid function and growth","volume":"19","author":"Pisarev MA","year":"2009","journal-title":"Thyroid"},{"key":"ref791","first-page":"1","article-title":"of endocrine and exocrine pancreas in homozygous transgenic beta","author":"Moritani","year":"2005","journal-title":"Mol Cell Endocrinol"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"399","DOI":"10.4158\/EP.11.6.399","article-title":"Engelmann disease in conjunction with hypogonadism","volume":"11","author":"Gupta","year":"2005","journal-title":"Endocr Pract"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1359\/jbmr.1998.13.10.1569","article-title":"Association of a polymorphism of the transforming growth factor - beta gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women","volume":"13","author":"Yamada","year":"1998","journal-title":"J Bone Miner Res"},{"key":"ref441","first-page":"132","article-title":"Case for diagnosis","volume":"13","author":"Cockayne","year":"1920","journal-title":"Proc Soc Med"},{"key":"ref821","first-page":"173","article-title":"bone dysplasias","author":"Beighton","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"ref671","first-page":"243","article-title":"Current insights into the role of transforming growth factor - beta in bone resorption","author":"Fox","year":"2005","journal-title":"Mol Cell Endocrinol"},{"key":"ref811","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.brainres.2010.08.036","article-title":"KT Corticotrophin - releasing factor and stress - induced inhibition of the gonadotrophin - releasing hormone pulse generator in the female","author":"Li","year":"2010","journal-title":"AM Brain Res"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/79128","article-title":"Domain - specific mutations in result in Camurati - Engelmann disease","volume":"26","author":"Kinoshita","year":"2000","journal-title":"Nat Genet"},{"key":"ref801","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1023\/A:1026229810876","article-title":"psychological stress and environment in humans adaptation maladaptation","volume":"6","author":"Sobrinho","year":"2003","journal-title":"Pituitary"},{"key":"ref421","first-page":"264","article-title":"in the treatment of progressive diaphyseal dysplasia disease","volume":"17","author":"Cherie","year":"1999","journal-title":"Clin Exp Rheumatol"},{"key":"ref651","first-page":"1","article-title":"Dual role for beta in Factor","volume":"16","author":"Sanchez","year":"2005","journal-title":"apoptosis Cytokine Growth Rev"},{"key":"ref381","first-page":"173","article-title":"bone dysplasias","author":"Beighton","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"ref221","first-page":"1","article-title":"inducible early gene knockout mice display defects in bone strength and microarchitecture","author":"Bensamoun","year":"2006","journal-title":"Bone"},{"key":"ref41","first-page":"1","article-title":"disease of the clinical radiological and molecular data of families and implications for diagnosis and treatment","volume":"24","author":"Janssens","year":"2006","journal-title":"review J Med Genet"},{"key":"ref271","first-page":"559","article-title":"IS The transforming growth factor - betas multifaceted regulators of the development and maintenance of skeletal muscles motoneurons cells","author":"McLennan","year":"2002","journal-title":"Int J Dev Biol"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0019\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T10:56:37Z","timestamp":1715424997000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0019\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,1]]},"references-count":78,"journal-issue":{"issue":"9-10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2013-0019","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1,1]]}}}