{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T14:52:07Z","timestamp":1792248727071,"version":"4.4.0"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2010,6,16]],"date-time":"2010-06-16T00:00:00Z","timestamp":1276646400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1038\/ejhg.2010.91","type":"journal-article","created":{"date-parts":[[2010,6,16]],"date-time":"2010-06-16T10:24:01Z","timestamp":1276683841000},"page":"1209-1215","source":"Crossref","is-referenced-by-count":35,"title":["Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome"],"prefix":"10.1038","volume":"18","author":[{"given":"Kim M","family":"Summers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sobia","family":"Raza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"van Nimwegen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas C","family":"Freeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Hume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,6,16]]},"reference":[{"key":"BFejhg201091_CR1","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.gde.2007.04.006","volume":"17","author":"F Ramirez","year":"2007","unstructured":"Ramirez F, Dietz HC : Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev 2007; 17: 252\u2013258.","journal-title":"Curr Opin Genet Dev"},{"key":"BFejhg201091_CR2","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1146\/annurev.med.51.1.481","volume":"51","author":"RE Pyeritz","year":"2000","unstructured":"Pyeritz RE : The Marfan syndrome. Annu Rev Med 2000; 51: 481\u2013510.","journal-title":"Annu Rev Med"},{"key":"BFejhg201091_CR3","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","volume":"62","author":"A De Paepe","year":"1996","unstructured":"De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE : Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417\u2013426.","journal-title":"Am J Med Genet"},{"key":"BFejhg201091_CR4","doi-asserted-by":"crossref","first-page":"627","DOI":"10.5694\/j.1326-5377.2006.tb00419.x","volume":"184","author":"KM Summers","year":"2006","unstructured":"Summers KM, West JA, Peterson MM, Stark D, McGill JJ, West MJ : Challenges in the diagnosis of Marfan syndrome. Med J Aust 2006; 184: 627\u2013631.","journal-title":"Med J Aust"},{"key":"BFejhg201091_CR5","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1002\/ajmg.c.30068","volume":"139C","author":"HC Dietz","year":"2005","unstructured":"Dietz HC, Loeys B, Carta L, Ramirez F : Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005; 139C: 4\u20139.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"BFejhg201091_CR6","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1136\/jmg.2005.039669","volume":"43","author":"PN Robinson","year":"2006","unstructured":"Robinson PN, Arteaga-Solis E, Baldock C et al: The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006; 43: 769\u2013787.","journal-title":"J Med Genet"},{"key":"BFejhg201091_CR7","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1172\/JCI200420641","volume":"114","author":"DP Judge","year":"2004","unstructured":"Judge DP, Biery NJ, Keene DR et al: Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest 2004; 114: 172\u2013181.","journal-title":"J Clin Invest"},{"key":"BFejhg201091_CR8","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1101\/gr.6.4.300","volume":"6","author":"LD Siracusa","year":"1996","unstructured":"Siracusa LD, McGrath R, Ma Q et al: A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res 1996; 6: 300\u2013313.","journal-title":"Genome Res"},{"key":"BFejhg201091_CR9","first-page":"493","volume":"82","author":"MC Green","year":"1976","unstructured":"Green MC, Sweet HO, Bunker LE : Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. Am J Pathol 1976; 82: 493\u2013512.","journal-title":"Am J Pathol"},{"key":"BFejhg201091_CR10","first-page":"366","volume":"6","author":"CD Jordan","year":"2006","unstructured":"Jordan CD, Charbonneau NL, Sakai LY : Fibrillin microfibrils: connective tissue pathways that regulate shape and signaling. J Musculoskelet Neuronal Interact 2006; 6: 366\u2013367.","journal-title":"J Musculoskelet Neuronal Interact"},{"key":"BFejhg201091_CR11","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1083\/jcb.200608167","volume":"176","author":"SS Chaudhry","year":"2007","unstructured":"Chaudhry SS, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM : Fibrillin-1 regulates the bioavailability of TGFbeta1. J Cell Biol 2007; 176: 355\u2013367.","journal-title":"J Cell Biol"},{"key":"BFejhg201091_CR12","doi-asserted-by":"publisher","first-page":"I371","DOI":"10.1161\/CIRCULATIONAHA.105.000927","volume":"114","author":"M Nataatmadja","year":"2006","unstructured":"Nataatmadja M, West J, West M : Overexpression of transforming growth factor-beta is associated with increased hyaluronan content and impairment of repair in Marfan syndrome aortic aneurysm. Circulation 2006; 114: I371\u2013I377.","journal-title":"Circulation"},{"key":"BFejhg201091_CR13","doi-asserted-by":"crossref","unstructured":"Peng L, Jia Z, Yin X et al: Comparative analysis of mesenchymal stem cells from bone marrow, cartilage and adipose tissue. Stem Cells Dev 2008.","DOI":"10.1089\/scd.2007.0217"},{"key":"BFejhg201091_CR14","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.biocel.2003.11.001","volume":"36","author":"FP Barry","year":"2004","unstructured":"Barry FP, Murphy JM : Mesenchymal stem cells: clinical applications and biological characterization. Int J Biochem Cell Biol 2004; 36: 568\u2013584.","journal-title":"Int J Biochem Cell Biol"},{"key":"BFejhg201091_CR15","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.4049\/jimmunol.181.2.1232","volume":"181","author":"MK Chang","year":"2008","unstructured":"Chang MK, Raggatt L-J, Alexander KA et al: Osteal tissue macrophages are intercalated throughout human and mouse bone lining tissues and regulate osteoblast function in vitro and in vivo. J Immunol 2008; 181: 1232\u20131244.","journal-title":"J Immunol"},{"key":"BFejhg201091_CR16","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1159\/000101314","volume":"185","author":"S Ahmed","year":"2007","unstructured":"Ahmed S, Nawshad A : Complexity in interpretation of embryonic epithelial\u2013mesenchymal transition in response to transforming growth factor-signaling. Cells Tissues Organs 2007; 185: 131\u2013145.","journal-title":"Cells Tissues Organs"},{"key":"BFejhg201091_CR17","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1159\/000101315","volume":"185","author":"ME Mercado-Pimental","year":"2007","unstructured":"Mercado-Pimental ME, Runyan RB : Multiple transforming growth factor-beta isoforms and receptors function during epithelial\u2013mesenchymal cell transformation in the embryonic heart. Cells Tissues Organs 2007; 185: 146\u2013156.","journal-title":"Cells Tissues Organs"},{"key":"BFejhg201091_CR18","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1002\/dvdy.20345","volume":"233","author":"ED Hay","year":"2005","unstructured":"Hay ED : The mesenchymal cell, its role in the embryo, and the remarkable signaling mechanisms that create it. Dev Dyn 2005; 233: 706\u2013720.","journal-title":"Dev Dyn"},{"key":"BFejhg201091_CR19","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1111\/j..2004.00186.x","volume":"65","author":"KM Summers","year":"2004","unstructured":"Summers KM, Xu D, West JA et al: An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. Clin Genet 2004; 65: 66\u201369.","journal-title":"Clin Genet"},{"key":"BFejhg201091_CR20","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1172\/JCI115766","volume":"89","author":"HC Dietz","year":"1992","unstructured":"Dietz HC, Pyeritz RE, Puffenberger EG et al: Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992; 89: 1674\u20131680.","journal-title":"J Clin Invest"},{"key":"BFejhg201091_CR21","first-page":"5","volume":"4","author":"JE Lattin","year":"2008","unstructured":"Lattin JE, Schroder K, Su AI et al: Expression analysis of G protein-coupled receptors in mouse macrophages. Immunol Res 2008; 4: 5.","journal-title":"Immunol Res"},{"key":"BFejhg201091_CR22","doi-asserted-by":"publisher","first-page":"2032","DOI":"10.1371\/journal.pcbi.0030206","volume":"3","author":"TC Freeman","year":"2007","unstructured":"Freeman TC, Goldovsky L, Brosch M et al: Construction, visualisation, and clustering of transcription networks from microarray expression data. PLoS Comput Biol 2007; 3: 2032\u20132042.","journal-title":"PLoS Comput Biol"},{"key":"BFejhg201091_CR23","unstructured":"Dongen SV : Graph clustering by flow simulation. PhD thesis, University of Utrecht, Utrecht 2000."},{"key":"BFejhg201091_CR24","doi-asserted-by":"publisher","first-page":"6062","DOI":"10.1073\/pnas.0400782101","volume":"101","author":"AI Su","year":"2004","unstructured":"Su AI, Wiltshire T, Batalov S et al: A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci USA 2004; 101: 6062\u20136067.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg201091_CR25","doi-asserted-by":"publisher","first-page":"5316","DOI":"10.1091\/mbc.e05-01-0084","volume":"16","author":"CG James","year":"2005","unstructured":"James CG, Appleton CT, Ulici V, Underhill TM, Beier F : Microarray analyses of gene expression during chondrocyte differentiation identifies novel regulators of hypertrophy. Mol Biol Cell 2005; 16: 5316\u20135333.","journal-title":"Mol Biol Cell"},{"key":"BFejhg201091_CR26","doi-asserted-by":"publisher","first-page":"1993","DOI":"10.1681\/ASN.2004121127","volume":"16","author":"KM Schmidt-Ott","year":"2005","unstructured":"Schmidt-Ott KM, Yang J, Chen X et al: Novel regulators of kidney development from the tips of the ureteric bud. J Am Soc Nephrol 2005; 16: 1993\u20132002.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg201091_CR27","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1152\/physiolgenomics.00269.2006","volume":"29","author":"X Li","year":"2007","unstructured":"Li X, Madison BB, Zacharias W, Kolterud A, States D, Gumucio DL : Deconvoluting the intestine: molecular evidence for a major role of the mesenchyme in the modulation of signaling cross talk. Physiol Genomics 2007; 29: 290\u2013301.","journal-title":"Physiol Genomics"},{"key":"BFejhg201091_CR28","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1038\/ng.375","volume":"41","author":"H Suzuki","year":"2009","unstructured":"Suzuki H, Forrest AR, van Nimwegen E et al: The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nat Genet 2009; 41: 553\u2013562.","journal-title":"Nat Genet"},{"key":"BFejhg201091_CR29","doi-asserted-by":"publisher","first-page":"8016","DOI":"10.1074\/jbc.M511599200","volume":"281","author":"L Carta","year":"2006","unstructured":"Carta L, Pereira L, Arteaga-Solis E et al: Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem 2006; 281: 8016\u20138023.","journal-title":"J Biol Chem"},{"key":"BFejhg201091_CR30","doi-asserted-by":"publisher","first-page":"6521","DOI":"10.1128\/MCB.00306-08","volume":"28","author":"CL Himeda","year":"2008","unstructured":"Himeda CL, Ranish JA, Hauschka SD : Quantitative proteomic identification of MAZ as a transcriptional regulator of muscle-specific genes in skeletal and cardiac myocytes. Mol Cell Biol 2008; 28: 6521\u20136535.","journal-title":"Mol Cell Biol"},{"key":"BFejhg201091_CR31","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1016\/j.devcel.2009.10.011","volume":"17","author":"S Yokoyama","year":"2009","unstructured":"Yokoyama S, Ito Y, Ueno-Kudoh H et al: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. Dev Cell 2009; 17: 836\u2013848.","journal-title":"Dev Cell"},{"key":"BFejhg201091_CR32","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ng1280","volume":"36","author":"S Baxendale","year":"2004","unstructured":"Baxendale S, Davison C, Muxworthy C, Wolff C, Ingham PW, Roy S : The B-cell maturation factor Blimp-1 specifies vertebrate slow-twitch muscle fiber identity in response to Hedgehog signaling. Nat Genet 2004; 36: 88\u201393.","journal-title":"Nat Genet"},{"key":"BFejhg201091_CR33","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.bbrc.2008.01.040","volume":"368","author":"T Hayata","year":"2008","unstructured":"Hayata T, Nakamoto T, Ezura Y, Noda M : Ciz, a transcription factor with a nucleocytoplasmic shuttling activity, interacts with C-propeptides of type I collagen. Biochem Biophys Res Commun 2008; 368: 205\u2013210.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg201091_CR34","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.ygeno.2009.06.005","volume":"94","author":"KM Summers","year":"2009","unstructured":"Summers KM, Bokil NJ, Baisden JM et al: Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics 2009; 94: 233\u2013240.","journal-title":"Genomics"},{"key":"BFejhg201091_CR35","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/1471-2172-4-5","volume":"4","author":"CA Wells","year":"2003","unstructured":"Wells CA, Ravasi T, Faulkner GJ et al: Genetic control of the innate immune response. BMC Immunol 2003; 4: 5.","journal-title":"BMC Immunol"},{"key":"BFejhg201091_CR36","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/S0002-9440(10)63305-6","volume":"165","author":"L Schaefer","year":"2004","unstructured":"Schaefer L, Mihalik D, Babelova A et al: Regulation of fibrillin-1 by biglycan and decorin is important for tissue preservation in the kidney during pressure-induced injury. Am J Pathol 2004; 165: 383\u2013396.","journal-title":"Am J Pathol"},{"key":"BFejhg201091_CR37","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/1746","volume":"20","author":"T Xu","year":"1998","unstructured":"Xu T, Bianco P, Fisher LW et al: Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. Nat Genet 1998; 20: 78\u201382.","journal-title":"Nat Genet"},{"key":"BFejhg201091_CR38","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/bdrc.20111","volume":"81","author":"JE Wagenseil","year":"2007","unstructured":"Wagenseil JE, Mecham RP : New insights into elastic fiber assembly. Birth Defects Res C Embryo Today 2007; 81: 229\u2013240.","journal-title":"Birth Defects Res C Embryo Today"},{"key":"BFejhg201091_CR39","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1038\/nature04695","volume":"440","author":"JT Erler","year":"2006","unstructured":"Erler JT, Bennewith KL, Nicolau M et al: Lysyl oxidase is essential for hypoxia-induced metastasis. Nature 2006; 440: 1222\u20131226.","journal-title":"Nature"},{"key":"BFejhg201091_CR40","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.ajhg.2010.01.034","volume":"86","author":"HE Christiansen","year":"2010","unstructured":"Christiansen HE, Schwarze U, Pyott SM et al: Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86: 389\u2013398.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201091_CR41","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1016\/j.ygeno.2010.03.002","volume":"95","author":"DA Hume","year":"2010","unstructured":"Hume DA, Summers KM, Raza S, Baillie JK, Freeman TC : Functional clustering and lineage markers: insights into cellular differentiation and gene function from large-scale microarray studies of purified primary cell populations. Genomics 2010; 95: 328\u2013338.","journal-title":"Genomics"},{"key":"BFejhg201091_CR42","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/(SICI)1520-6408(1998)22:1<43::AID-DVG5>3.0.CO;2-7","volume":"22","author":"KJ Kaneko","year":"1998","unstructured":"Kaneko KJ, DePamphilis ML : Regulation of gene expression at the beginning of mammalian development and the TEAD family of transcription factors. Dev Genet 1998; 22: 43\u201355.","journal-title":"Dev Genet"},{"key":"BFejhg201091_CR43","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1042\/BJ20041434","volume":"388","author":"WM Mahoney Jr","year":"2005","unstructured":"Mahoney Jr WM, Hong JH, Yaffe MB, Farrance IK : The transcriptional co-activator TAZ interacts differentially with transcriptional enhancer factor-1 (TEF-1) family members. Biochem J 2005; 388: 217\u2013225.","journal-title":"Biochem J"},{"key":"BFejhg201091_CR44","doi-asserted-by":"publisher","first-page":"26698","DOI":"10.1074\/jbc.273.41.26698","volume":"273","author":"K Aoki","year":"1998","unstructured":"Aoki K, Meng G, Suzuki K et al: RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. J Biol Chem 1998; 273: 26698\u201326704.","journal-title":"J Biol Chem"},{"key":"BFejhg201091_CR45","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1046\/j.1432-1327.1999.00081.x","volume":"259","author":"J Song","year":"1999","unstructured":"Song J, Murakami H, Tsutsui H et al: Structural organization and expression of the mouse gene for Pur-1, a highly conserved homolog of the human MAZ gene. Eur J Biochem 1999; 259: 676\u2013683.","journal-title":"Eur J Biochem"},{"key":"BFejhg201091_CR46","doi-asserted-by":"publisher","first-page":"20009","DOI":"10.1074\/jbc.271.33.20009","volume":"271","author":"JM Shields","year":"1996","unstructured":"Shields JM, Christy RJ, Yang VW : Identification and characterization of a gene encoding a gut-enriched Kruppel-like factor expressed during growth arrest. J Biol Chem 1996; 271: 20009\u201320017.","journal-title":"J Biol Chem"},{"key":"BFejhg201091_CR47","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1172\/JCI24886","volume":"115","author":"GP Chrousos","year":"2005","unstructured":"Chrousos GP, Kino T : Ikaros transcription factors: flying between stress and inflammation. J Clin Invest 2005; 115: 844\u2013848.","journal-title":"J Clin Invest"},{"key":"BFejhg201091_CR48","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1210\/me.2004-0432","volume":"19","author":"S Ezzat","year":"2005","unstructured":"Ezzat S, Yu S, Asa SL : The zinc finger Ikaros transcription factor regulates pituitary growth hormone and prolactin gene expression through distinct effects on chromatin accessibility. Mol Endocrinol 2005; 19: 1004\u20131011.","journal-title":"Mol Endocrinol"},{"key":"BFejhg201091_CR49","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1359\/jbmr.2001.16.1.10","volume":"16","author":"P Thunyakitpisal","year":"2001","unstructured":"Thunyakitpisal P, Alvarez M, Tokunaga K et al: Cloning and functional analysis of a family of nuclear matrix transcription factors (NP\/NMP4) that regulate type I collagen expression in osteoblasts. J Bone Miner Res 2001; 16: 10\u201323.","journal-title":"J Bone Miner Res"},{"key":"BFejhg201091_CR50","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/S0925-4773(02)00189-2","volume":"117","author":"DH Chang","year":"2002","unstructured":"Chang DH, Cattoretti G, Calame KL : The dynamic expression pattern of B lymphocyte induced maturation protein-1 (Blimp-1) during mouse embryonic development. Mech Dev 2002; 117: 305\u2013309.","journal-title":"Mech Dev"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201091.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201091","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201091.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:02:07Z","timestamp":1684429327000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,16]]},"references-count":50,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["BFejhg201091"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.91","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,16]]}}}