{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:25:58Z","timestamp":1791984358392,"version":"4.4.0"},"reference-count":67,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2014,1,20]],"date-time":"2014-01-20T00:00:00Z","timestamp":1390176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>By using a genome-wide N-ethyl-N-nitrosourea (ENU)-induced dominant mutagenesis screen in mice, a founder with low bone mineral density (BMD) was identified. Mapping and sequencing revealed a T to C transition in a splice donor of the collagen alpha1 type I (Col1a1) gene, resulting in the skipping of exon 9 and a predicted 18-amino acid deletion within the N-terminal region of the triple helical domain of Col1a1. Col1a1Jrt\/+ mice were smaller in size, had lower BMD associated with decreased bone volume\/tissue volume (BV\/TV) and reduced trabecular number, and furthermore exhibited mechanically weak, brittle, fracture-prone bones, a hallmark of osteogenesis imperfecta (OI). Several markers of osteoblast differentiation were upregulated in mutant bone, and histomorphometry showed that the proportion of trabecular bone surfaces covered by activated osteoblasts (Ob.S\/BS and N.Ob\/BS) was elevated, but bone surfaces undergoing resorption (Oc.S\/BS and N.Oc\/BS) were not. The number of bone marrow stromal osteoprogenitors (CFU-ALP) was unaffected, but mineralization was decreased in cultures from young Col1a1Jrt\/+ versus +\/+ mice. Total collagen and type I collagen content of matrices deposited by Col1a1Jrt\/+ dermal fibroblasts in culture was \u223c40% and 30%, respectively, that of +\/+ cells, suggesting that mutant collagen chains exerted a dominant negative effect on type I collagen biosynthesis. Mutant collagen fibrils were also markedly smaller in diameter than +\/+ fibrils in bone, tendon, and extracellular matrices deposited by dermal fibroblasts in vitro. Col1a1Jrt\/+ mice also exhibited traits associated with Ehlers-Danlos syndrome (EDS): Their skin had reduced tensile properties, tail tendon appeared more frayed, and a third of the young adult mice had noticeable curvature of the spine. Col1a1Jrt\/+ is the first reported model of combined OI\/EDS and will be useful for exploring aspects of OI and EDS pathophysiology and treatment. \u00a9 2014 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.2177","type":"journal-article","created":{"date-parts":[[2014,1,20]],"date-time":"2014-01-20T06:28:43Z","timestamp":1390199323000},"page":"1412-1423","source":"Crossref","is-referenced-by-count":75,"title":["First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome"],"prefix":"10.1093","volume":"29","author":[{"given":"Frieda","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruolin","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shousaku","family":"Itoh","sequence":"additional","affiliation":[{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Moreno","sequence":"additional","affiliation":[{"name":"Samuel Lunenfeld Research InstituteMount Sinai HospitalTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Zappitelli","sequence":"additional","affiliation":[{"name":"Department of Medical BiophysicsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph A","family":"Zirngibl","sequence":"additional","affiliation":[{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Flenniken","sequence":"additional","affiliation":[{"name":"Centre for Modeling Human DiseaseToronto Centre for PhenogenomicsTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Cole","sequence":"additional","affiliation":[{"name":"Divison of OrthopedicsThe Hospital for Sick ChildrenTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Grynpas","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and PathobiologyUniversity of TorontoTorontoCanada"},{"name":"Samuel Lunenfeld Research InstituteMount Sinai HospitalTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy R","family":"Osborne","sequence":"additional","affiliation":[{"name":"Department of MedicineUniversity of TorontoTorontoCanada"},{"name":"Centre for Modeling Human DiseaseToronto Centre for PhenogenomicsTorontoCanada"},{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and PathobiologyUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee","family":"Adamson","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and GynecologyUniversity of TorontoTorontoCanada"},{"name":"Heart and Stroke\/Richard Lewar Centre of ExcellenceUniversity of TorontoTorontoCanada"},{"name":"Centre for Modeling Human DiseaseToronto Centre for PhenogenomicsTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Rossant","sequence":"additional","affiliation":[{"name":"Program in Developmental and Stem Cell BiologyThe Hospital for Sick ChildrenTorontoCanada"},{"name":"Centre for Modeling Human DiseaseToronto Centre for PhenogenomicsTorontoCanada"},{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane E","family":"Aubin","sequence":"additional","affiliation":[{"name":"Centre for Modeling Human DiseaseToronto Centre for PhenogenomicsTorontoCanada"},{"name":"Department of Molecular GeneticsUniversity of TorontoTorontoCanada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,1,20]]},"reference":[{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0001","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0002","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","article-title":"CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta","volume":"127","author":"Morello","year":"2006","journal-title":"Cell."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0003","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1968","article-title":"Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta","volume":"39","author":"Cabral","year":"2007","journal-title":"Nat Genet."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0004","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.ajhg.2009.09.001","article-title":"PPIB mutations cause severe osteogenesis imperfecta","volume":"85","author":"van Dijk","year":"2009","journal-title":"Am J Hum Genet."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0005","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ajhg.2010.02.022","article-title":"Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta","volume":"86","author":"Alanay","year":"2010","journal-title":"Am J Hum Genet."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0006","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/jbmr.250","article-title":"Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome","volume":"26","author":"Kelley","year":"2011","journal-title":"J Bone Miner Res."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0007","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ajhg.2010.01.034","article-title":"Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta","volume":"86","author":"Christiansen","year":"2010","journal-title":"Am J Hum Genet."},{"issue":"10","key":"2024020318523903200_jbmr2177-bib-0008","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1056\/NEJM200003093421009","volume":"342","author":"Pyeritz","year":"2000","journal-title":"Ehlers-Danlos Syndrome. N Engl J Med."},{"issue":"11","key":"2024020318523903200_jbmr2177-bib-0009","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1038\/ejhg.2009.76","article-title":"Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome","volume":"17","author":"Plancke","year":"2009","journal-title":"Eur J Hum Genet."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0010","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1093\/nar\/26.1.253","article-title":"The Human Collagen Mutation Database 1998","volume":"26","author":"Dalgleish","year":"1998","journal-title":"Nucleic Acids Res."},{"issue":"1\u20134","key":"2024020318523903200_jbmr2177-bib-0011","doi-asserted-by":"crossref","first-page":"249","DOI":"10.3109\/03008209609029198","article-title":"Abnormal differentiation in MC3T3-E1 preosteoblasts expressing a dominant-negative type I collagen mutation","volume":"35","author":"Wenstrup","year":"1996","journal-title":"Connect Tissue Res."},{"issue":"11","key":"2024020318523903200_jbmr2177-bib-0012","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1093\/hmg\/5.11.1733","article-title":"A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)","volume":"5","author":"Wenstrup","year":"1996","journal-title":"Hum Mol Genet."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0013","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng0796-361","article-title":"A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito","volume":"13","author":"Toriello","year":"1996","journal-title":"Nat Genet."},{"issue":"11","key":"2024020318523903200_jbmr2177-bib-0014","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1136\/jmg.33.11.940","article-title":"An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome","volume":"33","author":"Nicholls","year":"1996","journal-title":"J Med Genet."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0015","first-page":"547","article-title":"Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II","volume":"60","author":"De Paepe","year":"1997","journal-title":"Am J Hum Genet."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0016","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1111\/j.1365-2230.1997.tb01055.x","article-title":"Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes","volume":"22","author":"Burrows","year":"1997","journal-title":"Clin Exp Dermatol."},{"issue":"16","key":"2024020318523903200_jbmr2177-bib-0017","doi-asserted-by":"crossref","first-page":"13356","DOI":"10.1074\/jbc.M011742200","article-title":"COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of \u03b11(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II","volume":"276","author":"Bouma","year":"2001","journal-title":"J Biol Chem."},{"issue":"6","key":"2024020318523903200_jbmr2177-bib-0018","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1086\/302933","article-title":"Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II)","volume":"66","author":"Schwarze","year":"2000","journal-title":"Am J Hum Genet."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0019","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/humu.20107","article-title":"The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients","volume":"25","author":"Malfait","year":"2005","journal-title":"Hum Mut."},{"issue":"10","key":"2024020318523903200_jbmr2177-bib-0020","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1136\/jmg.35.10.846","article-title":"A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II","volume":"35","author":"Richards","year":"1998","journal-title":"J Med Genet."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0021","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/7.2.249","article-title":"Mutations of the \u03b12(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I","volume":"7","author":"Michalickova","year":"1998","journal-title":"Hum Mol Genet."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0022","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997","volume":"77","author":"Beighton","year":"1998","journal-title":"Am J Hum Genet."},{"issue":"1\u20132","key":"2024020318523903200_jbmr2177-bib-0023","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1006\/mgme.2000.3076","article-title":"Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI","volume":"71","author":"Yeowell","year":"2000","journal-title":"Mol Genet Metab."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0024","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1006\/geno.1994.1654","article-title":"Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients","volume":"24","author":"Heikkinen","year":"1994","journal-title":"Genomics."},{"issue":"16","key":"2024020318523903200_jbmr2177-bib-0025","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1056\/NEJMoa002939","article-title":"A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency","volume":"345","author":"Schalkwijk","year":"2001","journal-title":"N Engl J Med."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0026","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ng850","article-title":"Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition","volume":"30","author":"Mao","year":"2002","journal-title":"Nat Genet."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0027","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1086\/302504","article-title":"Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene","volume":"5","author":"Colige","year":"1999","journal-title":"Am J Hum Genet."},{"key":"2024020318523903200_jbmr2177-bib-0028","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1042\/bj3550271","article-title":"Transgenic mice with inactive alleles for procollagen N-proteinase (ADAMTS-2) develop fragile skin and male sterility","volume":"355","author":"Li","year":"2001","journal-title":"Biochem J."},{"issue":"19","key":"2024020318523903200_jbmr2177-bib-0029","doi-asserted-by":"crossref","first-page":"19259","DOI":"10.1074\/jbc.M414698200","article-title":"Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta\/Ehlers-Danlos syndrome by interference with N-propeptide processing","volume":"280","author":"Cabral","year":"2005","journal-title":"J Biol Chem."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0030","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/nar\/25.1.181","article-title":"The human type I collagen mutation database","volume":"25","author":"Dalgleish","year":"1997","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0031","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum Mutat."},{"issue":"9","key":"2024020318523903200_jbmr2177-bib-0032","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat Rev Endocrinol."},{"key":"2024020318523903200_jbmr2177-bib-0033","volume-title":"Transitional care in osteogenesis imperfecta: advances in biology, technology and clinical practice","author":"Chen"},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0034","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/ng0195-31","article-title":"Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly","volume":"9","author":"Andrikopoulos","year":"1995","journal-title":"Nat Genet."},{"issue":"5","key":"2024020318523903200_jbmr2177-bib-0035","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1073\/pnas.94.5.1852","article-title":"Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development","volume":"94","author":"Liu","year":"1997","journal-title":"Proc Natl Acad Sci USA."},{"issue":"18","key":"2024020318523903200_jbmr2177-bib-0036","doi-asserted-by":"crossref","first-page":"12888","DOI":"10.1074\/jbc.M511528200","article-title":"Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages","volume":"281","author":"Wenstrup","year":"2006","journal-title":"J Biol Chem."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0037","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1093\/cvr\/cvq356","article-title":"Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome","volume":"90","author":"Smith","year":"2011","journal-title":"Cardiovasc Res."},{"issue":"9","key":"2024020318523903200_jbmr2177-bib-0038","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1172\/JCI12881","article-title":"The Ehlers-Danlos syndrome: on beyond collagens","volume":"107","author":"Mao","year":"2001","journal-title":"J Clin Invest."},{"issue":"7","key":"2024020318523903200_jbmr2177-bib-0039","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1007\/s003350010094","article-title":"Effects of ENU dosage on mouse strains","volume":"11","author":"Justice","year":"2000","journal-title":"Mamm Genome."},{"issue":"19","key":"2024020318523903200_jbmr2177-bib-0040","doi-asserted-by":"crossref","first-page":"4375","DOI":"10.1242\/dev.02011","article-title":"A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia","volume":"132","author":"Flenniken","year":"2005","journal-title":"Development."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0041","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/hmg\/ddh034","article-title":"Defective bone mineralization and osteopenia in young adult FGFR3-\/- mice","volume":"13","author":"Valverde-Franco","year":"2004","journal-title":"Hum Mol Genet."},{"issue":"5","key":"2024020318523903200_jbmr2177-bib-0042","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s002239900723","article-title":"Centrifugal isolation of bone marrow from bone: an improved method for the recovery and quantitation of bone marrow osteoprogenitor cells from rat tibiae and femurae","volume":"65","author":"Dobson","year":"1999","journal-title":"Calcif Tissue Int."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0043","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/0012-1606(89)90291-1","article-title":"Determination of numbers of osteoprogenitors present in isolated fetal-rat calvaria cells in vitro","volume":"133","author":"Bellows","year":"1989","journal-title":"Dev Biol."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0044","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF02556874","article-title":"Mineralized bone nodules formed in vitro from enzymatically released rat calvaria cell populations","volume":"38","author":"Bellows","year":"1986","journal-title":"Calcif Tissue Int."},{"issue":"8","key":"2024020318523903200_jbmr2177-bib-0045","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1089\/cmb.2005.12.1047","article-title":"Comprehensive algorithm for quantitative real-time polymerase chain reaction","volume":"12","author":"Zhao","year":"2005","journal-title":"J Comput Biol."},{"issue":"1","key":"2024020318523903200_jbmr2177-bib-0046","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1042\/bj2170103","article-title":"Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta","volume":"217","author":"Bateman","year":"1984","journal-title":"Biochem J."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0047","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1042\/bj2400699","article-title":"Collagen defects in lethal perinatal osteogenesis imperfecta","volume":"240","author":"Bateman","year":"1986","journal-title":"Biochem J."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0048","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/jbmr.5650070216","article-title":"Relationship between collagen synthesis and expression of the osteoblast phenotype in MC3T3-E1 cells","volume":"7","author":"Franceschi","year":"1992","journal-title":"J Bone Miner Res."},{"issue":"49","key":"2024020318523903200_jbmr2177-bib-0049","doi-asserted-by":"crossref","first-page":"32988","DOI":"10.1074\/jbc.273.49.32988","article-title":"Role of the alpha2-integrin in osteoblast-specific gene expression and activation of the Osf2 transcription factor","volume":"273","author":"Xiao","year":"1998","journal-title":"J Biol Chem."},{"issue":"53","key":"2024020318523903200_jbmr2177-bib-0050","doi-asserted-by":"crossref","first-page":"37923","DOI":"10.1074\/jbc.274.53.37923","article-title":"Use of the Cre\/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice","volume":"274","author":"Forlino","year":"1999","journal-title":"J Biol Chem."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0051","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1359\/jbmr.090720","article-title":"Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model","volume":"25","author":"Daley","year":"2010","journal-title":"J Bone Miner Res."},{"issue":"12","key":"2024020318523903200_jbmr2177-bib-0052","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1359\/jbmr.080804","article-title":"Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors","volume":"23","author":"Uveges","year":"2008","journal-title":"J Bone Miner Res."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0053","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1002\/jcb.21337","article-title":"Increased resorptive activity and accompanying morphological alterations in osteoclasts derived from the Oim\/Oim mouse model of osteogenesis imperfecta","volume":"102","author":"Zhang","year":"2007","journal-title":"J Cell Biochem."},{"issue":"26","key":"2024020318523903200_jbmr2177-bib-0054","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1056\/NEJM198406283102602","article-title":"Osteogenesis imperfecta after the menopause","volume":"310","author":"Paterson","year":"1984","journal-title":"N Engl J Med."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0055","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1359\/JBMR.040111","article-title":"Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength","volume":"19","author":"Kozloff","year":"2004","journal-title":"J Bone Miner Res."},{"issue":"4","key":"2024020318523903200_jbmr2177-bib-0056","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1172\/JCI116756","article-title":"A murine skeletal adaptation that significantly increases cortical bone mechanical properties\u2014implications for human skeletal fragility","volume":"92","author":"Bonadio","year":"1993","journal-title":"J Clin Invest."},{"issue":"12","key":"2024020318523903200_jbmr2177-bib-0057","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1002\/jbmr.5650101202","article-title":"Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta","volume":"10","author":"Pereira","year":"1995","journal-title":"J Bone Miner Res."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0058","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/s002239900412","article-title":"Bone geometry and strength measurements in aging mice with the oim mutation","volume":"62","author":"McBride","year":"1998","journal-title":"Calcif Tissue Int."},{"issue":"12","key":"2024020318523903200_jbmr2177-bib-0059","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1359\/jbmr.1999.14.12.2015","article-title":"Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia","volume":"14","author":"Fedde","year":"1999","journal-title":"J Bone Miner Res."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0060","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1177\/10454411000110030101","article-title":"Osteopontin","volume":"11","author":"Sodek","year":"2000","journal-title":"Crit Rev Oral Biol Med."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0061","first-page":"214","article-title":"Skin response to mechanical stress: adaptation rather than breakdown\u2014a review of the literature","volume":"32","author":"Sanders","year":"1995","journal-title":"J Rehab Res Dev."},{"issue":"10","key":"2024020318523903200_jbmr2177-bib-0062","doi-asserted-by":"crossref","first-page":"6463","DOI":"10.1074\/jbc.M511830200","article-title":"Molecular mechanism of alpha 1(I)-osteogenesis imperfecta\/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix","volume":"281","author":"Makareeva","year":"2006","journal-title":"J Biol Chem."},{"issue":"3","key":"2024020318523903200_jbmr2177-bib-0063","first-page":"499","article-title":"Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen","volume":"36","author":"Prockop","year":"1984","journal-title":"Am J Hum Genet."},{"issue":"34","key":"2024020318523903200_jbmr2177-bib-0064","doi-asserted-by":"crossref","first-page":"23373","DOI":"10.1016\/S0021-9258(18)54506-3","article-title":"Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta","volume":"266","author":"Khillan","year":"1991","journal-title":"J Biol Chem."},{"key":"2024020318523903200_jbmr2177-bib-0065","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev.pathmechdis.3.121806.151434","article-title":"Endoplasmic reticulum stress in disease pathogenesis","volume":"3","author":"Lin","year":"2008","journal-title":"Ann Rev Pathol Mech Dis."},{"issue":"2","key":"2024020318523903200_jbmr2177-bib-0066","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1371\/journal.pgen.0040007","article-title":"ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta","volume":"4","author":"Lisse","year":"2008","journal-title":"PLoS Genet."},{"issue":"24","key":"2024020318523903200_jbmr2177-bib-0067","doi-asserted-by":"crossref","first-page":"e154","DOI":"10.1093\/nar\/gng154","article-title":"A PCR primer bank for quantitative gene expression analysis","volume":"31","author":"Wang","year":"2003","journal-title":"Nucleic Acids Res."}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.2177","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/29\/6\/1412\/56565874\/jbmr2177.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/29\/6\/1412\/56565874\/jbmr2177.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T14:51:28Z","timestamp":1710341488000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/29\/6\/1412-1423\/7598963"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,20]]},"references-count":67,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2014,1,20]]},"published-print":{"date-parts":[[2014,6,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.2177","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2014,6,1]]},"published":{"date-parts":[[2014,1,20]]}}}