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“Genetic variation in ERCC1 and XPF genes and breast cancer risk”, vol. 13, pp. 2259-2267, 2014.
, “Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta”, vol. 10, pp. 177-185, 2011.
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Barnes AM, Chang W, Morello R, Cabral WA, et al. (2006). Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N. Engl. J. Med. 355: 2757-2764.
http://dx.doi.org/10.1056/NEJMoa063804
PMid:17192541
Benusiene E and Kucinskas V (2003). COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. J. Appl. Genet. 44: 95-102.
PMid:12590186
Bhattacharyya N and Banerjee D (1999). Transcriptional regulatory sequences within the first intron of the chicken apolipoprotein AI (apoAI) gene. Gene 234: 371-380.
http://dx.doi.org/10.1016/S0378-1119(99)00183-3
Chessler SD, Wallis GA and Byers PH (1993). Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. J. Biol. Chem. 268: 18218-18225.
PMid:8349697
Clement JQ and Wilkinson MF (2000). Rapid induction of nuclear transcripts and inhibition of intron decay in response to the polymerase II inhibitor DRB. J. Mol. Biol. 299: 1179-1191.
http://dx.doi.org/10.1006/jmbi.2000.3745
PMid:10873444
Di Lullo GA, Sweeney SM, Korkko J, Ala-Kokko L, et al. (2002). Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J. Biol. Chem. 277: 4223-4231.
http://dx.doi.org/10.1074/jbc.M110709200
PMid:11704682
Engel J and Prockop DJ (1991). The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu. Rev. Biophys. Biophys. Chem. 20: 137-152.
http://dx.doi.org/10.1146/annurev.bb.20.060191.001033
PMid:1867713
Forlino A and Marini JC (2000). Osteogenesis imperfecta: prospects for molecular therapeutics. Mol. Genet. Metab. 71: 225-232.
http://dx.doi.org/10.1006/mgme.2000.3039
PMid:11001814
Glorieux FH, Rauch F, Plotkin H, Ward L, et al. (2000). Type V osteogenesis imperfecta: a new form of brittle bone disease. J. Bone Miner. Res. 15: 1650-1658.
http://dx.doi.org/10.1359/jbmr.2000.15.9.1650
PMid:10976985
Hartikka H, Kuurila K, Korkko J, Kaitila I, et al. (2004). Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum. Mutat. 24: 147-154.
http://dx.doi.org/10.1002/humu.20071
PMid:15241796
Kuivaniemi H, Tromp G and Prockop DJ (1997). Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum. Mutat. 9: 300-315.
http://dx.doi.org/10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9
Mattick JS (1994). Introns: evolution and function. Curr. Opin. Genet. Dev. 4: 823-831.
http://dx.doi.org/10.1016/0959-437X(94)90066-3
Morello R, Bertin TK, Chen Y, Hicks J, et al. (2006). CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127: 291-304.
http://dx.doi.org/10.1016/j.cell.2006.08.039
PMid:17055431
Pace JM, Chitayat D, Atkinson M, Wilcox WR, et al. (2002). A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. J. Med. Genet. 39: 23-29.
http://dx.doi.org/10.1136/jmg.39.1.23
PMid:11826020 PMCid:1734955
Pepin M, Atkinson M, Starman BJ and Byers PH (1997). Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat. Diagn. 17: 559- 570.
http://dx.doi.org/10.1002/(SICI)1097-0223(199706)17:6<559::AID-PD111>3.0.CO;2-G
Pollitt R, McMahon R, Nunn J, Bamford R, et al. (2006). Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum. Mutat. 27: 716.
http://dx.doi.org/10.1002/humu.9430
PMid:16786509
Sykes B (1993). Linkage analysis in dominantly inherited osteogenesis imperfecta. Am. J. Med. Genet. 45: 212-216.
http://dx.doi.org/10.1002/ajmg.1320450212
PMid:8456805
Venturi G, Tedeschi E, Mottes M, Valli M, et al. (2006). Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clin. Genet. 70: 131-139.
http://dx.doi.org/10.1111/j.1399-0004.2006.00646.x
PMid:16879195
Vuorio E and de Crombrugghe B (1990). The family of collagen genes. Annu. Rev. Biochem. 59: 837-872.
http://dx.doi.org/10.1146/annurev.bi.59.070190.004201
PMid:2197991