{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T17:13:39Z","timestamp":1774977219782,"version":"3.50.1"},"reference-count":23,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2015]]},"DOI":"10.5582\/irdr.2014.01039","type":"journal-article","created":{"date-parts":[[2015,2,4]],"date-time":"2015-02-04T22:02:20Z","timestamp":1423087340000},"page":"49-53","source":"Crossref","is-referenced-by-count":11,"title":["Heterozygous mutation of c.3521C&amp;gt;T in &lt;i&gt;COL1A1&lt;\/i&gt; may cause mild osteogenesis imperfecta\/Ehlers-Danlos syndrome in a Chinese family"],"prefix":"10.5582","volume":"4","author":[{"given":"Xianlong","family":"Shi","sequence":"first","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanqin","family":"Lu","sequence":"additional","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanzhou","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-ang","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanwei","family":"Teng","sequence":"additional","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanshui","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenzhong","family":"Han","sequence":"additional","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianyou","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Shandong Provincial Hospital Affiliated to Shandong University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junlong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengling","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conghui","family":"Dou","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuzhi","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, The People&apos;s Hospital of Wuqing District"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxiang","family":"Han","sequence":"additional","affiliation":[{"name":"School of Medicine and Life Sciences, University of Ji&apos;nan-Shandong Academy of Medical Sciences"},{"name":"Key Laboratory for Biotech-Drugs Ministry of Health, Key Laboratory for Modern Medicine and Technology of Shandong Province, Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province, Key Laboratory for Virology of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16:101-116.","DOI":"10.1136\/jmg.16.2.101"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Marini JC, Forlino A, Cabral WA, et al. 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. Hum Mutat. 2007; 28:209-221.","DOI":"10.1002\/humu.20429"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Dalgleish R. The human type I collagen mutation database. Nucleic Acids Research. 1997; 25:181-187.","DOI":"10.1093\/nar\/25.1.181"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Dalgleish R. The human type I collagen mutation database. Nucleic Acids Research. 1998; 26:253-255.","DOI":"10.1093\/nar\/26.1.253"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Nicholls AC, Oliver J, Renouf DV, McPheat J, Palan A, Pope FM. Ehlers-Danlos syndrome type VII: A single base change that causes exon skipping in the type I collagen alpha 2(I) chain. Hum Genet. 1991; 87:193-198.","DOI":"10.1007\/BF00204180"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Makareeva E, Cabral WA, Marini JC, Leikin S. 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. J Biol Chem. 2006; 281:6463-6470.","DOI":"10.1074\/jbc.M511830200"},{"key":"7","unstructured":"7. Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: Evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am J Hum Genet. 1991; 48:305-317."},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Chiodo AA, Hockey A, Cole WG. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem. 1992; 267:6361-6369.","DOI":"10.1016\/S0021-9258(18)42703-2"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Feshchenko S, Brinckmann J, Lehmann HW, Koch HG, Muller PK, Kugler S. Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online. Hum Mutat. 1998; 12:138.","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Nicholls AC, Valler D, Wallis S, Pope FM. Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS\/OI clinical phenotype. J Med Genet. 2001; 38:132-136.","DOI":"10.1136\/jmg.38.2.132"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta\/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005; 280:19259-19269.","DOI":"10.1074\/jbc.M414698200"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe. A Met&gt;Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS\/OI phenotype. J Med Genet. 2004; 41:e96.","DOI":"10.1136\/jmg.2003.014589"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC. Y-position cysteine substitution in type I collagen (alpha1(I) R888C\/p.R1066C) is associated with osteogenesis imperfecta\/Ehlers-Danlos syndrome phenotype. Hum Mutat. 2007; 28:396-405.","DOI":"10.1002\/humu.20456"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Lund A, Joensen F, Christensen E, Duno M, Skovby F, Schwartz M. A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta\/Ehlers-Danlos phenotype. Clin Genet. 2008; 73:97-101.","DOI":"10.1111\/j.1399-0004.2007.00926.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab. 2011; 30:69-77.","DOI":"10.1007\/s00774-011-0284-6"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Sunyaev S, Ramensky V, Koch I, Lathe W, 3rd, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet. 2001; 10:591-597.","DOI":"10.1093\/hmg\/10.6.591"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006; 43:295-305.","DOI":"10.1136\/jmg.2005.033878"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001; 11:863-874.","DOI":"10.1101\/gr.176601"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Gautieri A, Vesentini S, Redaelli A, Buehler MJ. Single molecule effects of osteogenesis imperfecta mutations in tropocollagen protein domains. Protein Sci. 2009; 18:161-168.","DOI":"10.1002\/pro.21"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Gautieri A, Uzel S, Vesentini S, Redaelli A, Buehler MJ Molecular and mesoscale mechanisms of osteogenesis imperfecta disease in collagen fibrils. Biophys J. 2009; 97:857-865.","DOI":"10.1016\/j.bpj.2009.04.059"},{"key":"21","unstructured":"21. D&apos;Alessio M, Ramirez F, Blumberg BD, Wirtz MK, Rao VH, Godfrey MD, Hollister DW. Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: Further evidence of molecular homogeneity. Am J Hum Genet. 1991; 49:400-406."},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Bourhis JM, Mariano N, Zhao Y, Harlos K, Exposito JY, Jones EY, Moali C, Aghajari N, Hulmes DJ. Structural basis of fibrillar collagen trimerization and related genetic disorders. Nat Struct Mol Biol. 2012; 19:1031-1036.","DOI":"10.1038\/nsmb.2389"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Bulleid NJ. Solving the mystery of procollagen chain selectivity. Nat Struct Mol Biol. 2012; 19:977-978.","DOI":"10.1038\/nsmb.2397"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","deposited":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T01:10:46Z","timestamp":1717722646000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/4\/1\/4_2014.01039\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2014.01039","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2015]]}}}