| 1 | COL1A2, SCX
|
| Regulation of scleraxis transcriptional activity by serine phosphorylation.
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| Bagchi RA, Wang R, Jahan F, Wigle JT, Czubryt MP.
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| J Mol Cell Cardiol 92:140-8. doi: 10.1016/j.yjmcc.2016.02.013. Epub 2016 Feb 13.
2016
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| 2 | COL1A1, COL1A2, OI3A, OI3B, OI4A, OI4B
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| Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
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| Thiele F, Cohrs CM, Flor A, Lisse TS, Przemeck GK, Horsch M, Schrewe A, Gailus-Durner V, Ivandic B, Katus HA, Wurst W, Reisenberg C, Chaney H, Fuchs H, Hans W, Beckers J, Marini JC, Hrabé de Angelis M.
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| Hum Mol Genet 21(16):3535-45. doi: 10.1093/hmg/dds183. Epub 2012 May 15.
2012
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| 3 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
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| Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT.
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| Clin Genet 82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24.
2012
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| 4 | COL1A2, SCX
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| Synergistic roles of scleraxis and Smads in the regulation of collagen 1α2 gene expression.
|
| Bagchi RA, Czubryt MP.
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| Biochim Biophys Acta 1823(10):1936-44. doi: 10.1016/j.bbamcr.2012.07.002. Epub 2012 Jul 13.
2012
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| 5 | COL1A2, NAMPT, RFX5, SIRT1
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| SIRT1 deacetylates RFX5 and antagonizes repression of collagen type I (COL1A2) transcription in smooth muscle cells.
|
| Xia J, Wu X, Yang Y, Zhao Y, Fang M, Xie W, Wang H, Xu Y.
|
| Biochem Biophys Res Commun 428(2):264-70. doi: 10.1016/j.bbrc.2012.10.043. Epub 2012 Oct 15.
2012
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| 6 | COL1A1, COL1A2, OI2A, OI2B
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| Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
|
| Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE.
|
| Hum Mol Genet 18(3):463-71. Epub 2008 Nov 7.
2009
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| 7 | COL1A2, IFNG, RFXANK
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| RFXB and its splice variant RFXBSV mediate the antagonism between IFNgamma and TGFbeta on COL1A2 transcription in vascular smooth muscle cells.
|
| Fang M, Kong X, Li P, Fang F, Wu X, Bai H, Qi X, Chen Q, Xu Y.
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| Nucleic Acids Res 37(13):4393-406. Epub 2009 May 22. 2009
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| 8 | COL1A2
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| The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans.
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| Joo SP, Kim TS, Lee IK, Lee JK, Seo BR, Kim JH, Kim SH.
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| Surg Neurol 72(1):48-53; discussion 53.
2009
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| 9 | COL1A2
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| Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk.
|
| Lindahl K, Rubin CJ, Brändström H, Karlsson MK, Holmberg A, Ohlsson C, Mellström D, Orwoll E, Mallmin H, Kindmark A, Ljunggren O.
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| Biochem Biophys Res Commun 384(4):501-5. Epub 2009 May 6.
2009
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| 10 | COL1A2
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| CpG hypermethylation of collagen type I alpha 2 contributes to proliferation and migration activity of human bladder cancer.
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| Mori K, Enokida H, Kagara I, Kawakami K, Chiyomaru T, Tatarano S, Kawahara K, Nishiyama K, Seki N, Nakagawa M.
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| Int J Oncol 34(6):1593-602.PMID: 19424577 2009
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| 11 | COL1A2
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| Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.
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| Faqeih E, Roughley P, Glorieux FH, Rauch F.
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| Am J Med Genet A 149A(3):461-5.PMID: 19208385 2009
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| 12 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
|
| Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B.
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| Am J Med Genet A 146A(10):1341-6. No abstract available. 2008
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| 13 | AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
|
| The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
|
| Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
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| Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
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| 14 | COL1A2, DEL7Q21, DYT11, SGCE
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| Myoclonus-dystonia: significance of large SGCE deletions.
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| Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C.
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| Hum Mutat 29(2):331-2. 2008
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| 15 | COL1A2, DEL7Q21, DYT11, KRIT1, SGCE, SHFM1
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| Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
|
| Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.
|
| Brain 130(Pt 10):2736-45. 2007
|
| 16 | COL1A2, EDS7A2
|
| Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
|
| Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A.
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| J Med Genet 43(7):e36. 2006
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| 17 | COL1A1, COL1A2, OI1B , OI2B , OI3B , OI4B
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| Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
|
| Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.
|
| Hum Mutat 27(6):599. 2006
|
| 18 | COL1A2, EGR1
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| The early-immediate gene EGR-1 is induced by transforming growth factor-beta and mediates stimulation of collagen gene expression.
|
| Chen SJ, Ning H, Ishida W, Sodin-Semrl S, Takagawa S, Mori Y, Varga J.
|
| J Biol Chem 281(30):21183-97. Epub 2006 May 15. 2006
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| 19 | COL1A2, EDS11
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| Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
|
| Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A.
|
| J Med Genet 43(7):e36.
2006
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| 20 | COL1A2
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| Identification of a repressor in the first intron of the human alpha2(I) collagen gene (COL1A2).
|
| Antoniv TT, Tanaka S, Sudan B, De Val S, Liu K, Wang L, Wells DJ, Bou-Gharios G, Ramirez F.
|
| J Biol Chem 280(42):35417-23. Epub 2005 Aug 8. 2005
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| 21 | EDS11, COL1A2
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| Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway.
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| Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.
|
| Am J Hum Genet 74(5):917-30. Epub 2004 Apr 09. 2004
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| 22 | ACTG1, COL1A1, COL1A2, COL2A1, COL9A1, DIO2, HSPA8, IBSP, IGF1, KAT6B, OGN, POU3F4, RBMS3, VIM, ZIC2
|
| Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
|
| Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP.
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| Genomics 82(4):480-90. 2003
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| 23 | COL1A2, COL1A1
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| Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.
|
| Pace JM, Atkinson M, Willing MC, Wallis G, Byers PH.
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| Hum Mutat 18(4):319-26. 2001
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| 24 | COL1A2
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| Partial COL1A2 gene duplication produces features of osteogenesis imperfeta and Ehlers-Danlos syndrome type VII.
|
| Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH.
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| Hum Genet 106:19-28 2000
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| 25 | COL1A2
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| Association of functional microsatellites in the human type I collagen alpha2 chain (COL1A2) gene with systemic sclerosis.
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| Hata R, Akai J, Kimura A, Ishikawa O, Kuwana M, Shinkai H.
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| Biochem Biophys Res Commun 272(1):36-40. 2000
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| 26 | ALB, CAD, CCNA2, CDC25A, CDK1, CEBPA, COL1A1, COL1A2, COL3A1, COL6A3, DHFR, DMTF1, GADD45A, JUN, LDHA, MXI1, MYC, ODC1, RCC1, SERPINE1, TERT, TK1, TK2, TP53
|
| c-Myc target genes involved in cell growth, apoptosis, and metabolism.
|
| Dang CV.
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| Mol Cell Biol 19(1):1-11. Review. No abstract available 1999
|
| 27 | COL1A2, OI3B
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| Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
|
| De Paepe A, et al.
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| Hum Genet 99 : 478-483. 1997
|
| 28 | COL1A1, COL1A2, COL2A1, COL3A1, COL9A1, COL10A1
|
| 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.
|
| Kuivaniemi H, Tromp G, Prockop DJ.
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| Hum Mutat 9 : 300-315. 1997
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| 29 | COL1A2, OI3B
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| Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
|
| Nuytinck L, Wettinck K, Freund M, Van Maldergem L, Fabry G, De Paepe A.
|
| Eur J Hum Genet 5(3):161-7. 1997
|
| 30 | COL1A1, COL1A2, EDS7A1, EDS7A2
|
| Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
|
| Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.
|
| Am J Med Genet 72(1):94-105. 1997
|
| 31 | COL1A2, OI4B
|
| Deletion of a Gly-Pro-Pro repeat in the proalpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.
|
| Lund AM, et al.
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| Hum Genet 97 : 287-290. 1996
|
| 32 | COL1A1, COL1A2, OI3A, OPM
|
| Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
|
| Nuytinck L, et al.
|
| Hum Genet 97 : 324-329. 1996
|
| 33 | COL1A2, OI1B
|
| Splice site mutation causing deletion of exon 21 sequences from the Proalpha2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
|
| Nicholls AC, et al.
|
| Hum Mutat 7 : 219-227. 1996
|
| 34 | OI3B, COL1A2
|
| Gly802Asp substitution in the proalpha2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
|
| Lund AM, et al.
|
| Eur J Hum Genet 4 : 39-45. 1996
|
| 35 | COL1A2, OI2B
|
| Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB.
|
| Mundlos S, et al.
|
| J Biol Chem 271 : 21068-21074. 1996
|
| 36 | COL1A2, OI3B
|
| A novel G1006A substitution in the alpha2(I) chain of type I collagen produces osteogenesis imperfecta type III.
|
| Lu J, et al.
|
| Hum Mutat 5 : 175-178. 1995
|
| 37 | COL1A2, OI3B
|
| A Gly238Ser substitution in the alpha2 chain of type I collagen results in osteogenesis imperfecta type III.
|
| Rose NJ, et al.
|
| Hum Genet 95 : 215-218. 1995
|
| 38 | OI3B, COL1A2
|
| A Gly859Ser substitution in the triple helical domain of the alpha2 of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
|
| Rose NJ, et al.
|
| Hum Mutat 3 : 391-394. 1994
|
| 39 | COL1A2, EDS7A2
|
| Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
|
| Ho KKY, et al.
|
| Hum Mutat 3 : 358-364. 1994
|
| 40 | OI1B, COL1A2
|
| A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in proalpha2(I) collagen mRNA and produces mild osteogenesis imperfecta.
|
| Mottes M, et al.
|
| Hum Genet 93 : 681-687. 1994
|
| 41 | COL1A2, OI1B
|
| Substitution of an aspartic acid for glycine 700 in the alpha2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
|
| Cohen-Solal L, et al.
|
| J Biol Chem 269 : 14751-14758. 1994
|
| 42 | OI2B, COL1A2
|
| Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha2-chain of type I collagen.
|
| Rose NJ, et al.
|
| Hum Genet 94 : 497-503. 1994
|
| 43 | COL1A1, COL1A2
|
| Severe (type III) osteognensis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
|
| Forlino A, et al.
|
| Hum Mol Genet 3 : 2201-2206. 1994
|
| 44 | OI2B, COL1A2
|
| Determination of a new collagen type I alpha2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
|
| Gomez-Lira M, et al.
|
| J Med Genet 31 : 965-968. 1994
|
| 45 | OI2B, OI4B, COL1A2
|
| Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha2(I) collagen chain.
|
| Wang Q, et al.
|
| J Biol Chem 268 : 25162-25167. 1993
|
| 46 | OI2B, COL1A2
|
| A novel glycine to glutamic acid substitution at position 343 in the alpha2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
|
| Rose NJ, et al.
|
| Hum Mol Genet 2 : 2175-2177. 1993
|
| 47 | OI4B, COL1A2
|
| An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
|
| Superti-Furga A, et al.
|
| Connect Tissue Res 29 : 31-40. 1993
|
| 48 | COL1A2, OI2B
|
| A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
|
| Vikkula M, et al.
|
| Genomics 16 : 282-285. 1993
|
| 49 | OI1B, COL1A2
|
| Deletion of 19 base pairs in intron 13 of the gene for the pro-alpha2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
|
| Zhuang J, et al.
|
| Hum Genet 91 : 210-216. 1993
|
| 50 | OI4B, COL1A2
|
| Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
|
| Marini JC, et al.
|
| J Biol Chem 268 : 2667-2673. 1993
|
| 51 | COL1A2, OI2B
|
| 2 cysteine substitutions in procollagen-I. A glycine replacement near the N-terminus of alpha1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha2(I) chain markedly destabilizes the triple helix.
|
| Fertala A, et al.
|
| Biochem J 289 : 195-200. 1993
|
| 52 | OI1B, COL1A2
|
| Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
|
| Sztrolovics R, et al.
|
| Hum Mol Genet 2 : 1319-1321. 1993
|
| 53 | OI1B, COL1A2
|
| A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.
|
| Pepe G.
|
| Hum Mutat 2 : 300-305. 1993
|
| 54 | COL1A2, OI4B
|
| A de novo G+1-A mutation at the alpha2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
|
| Filie JD, et al.
|
| Hum Mutat 2 : 380-388. 1993
|
| 55 | OI3B, COL1A2
|
| A single amino acid deletion in the alpha-2(I) chain of type I collagen produces osteogenesis imperfecta type III.
|
| Molyneux K, et al.
|
| Hum Genet 90 : 621-628. 1993
|
| 56 | OI1B, COL1A2
|
| The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility : exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.
|
| Nicholls AC, et al.
|
| Hum Genet 88 : 627-633. 1992
|
| 57 | EGFR, COL1A2
|
| Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and pro-alpha2(1) collagen (COL1A2).
|
| Chi DD, et al.
|
| Hum Mol Genet 1 : 135. 1992
|
| 58 | COL1A2
|
| Three new polymorphisms at the COL1A2 locus.
|
| Strobel D, et al.
|
| Matrix 12 : 87-91. 1992
|
| 59 | OI2B, COL1A2
|
| Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type 1 collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
|
| Edwards MJ, et al.
|
| Hum Mutat 1 : 47-54. 1992
|
| 60 | OI2B, COL1A2
|
| Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
|
| Bateman JF, et al.
|
| Hum Mutat 1 : 55-62. 1992
|
| 61 | COL1A2
|
| Nested polymerase chain reaction on cellular DNA in plasma : a rapid method to investigate the collagen type I A2 MspI polymorphic restriction site in alcoholic patients.
|
| Christa L, et al.
|
| Hum Genet 88 : 537-540. 1992
|
| 62 | COL1A2
|
| Detection of the Msp I restriction fragment length polymorphism within the COLIA2 collagen gene.
|
| Hampson VF, et al.
|
| Biochem Soc Trans 20 : 178S. 1992
|
| 63 | COL1A2
|
| Refinement of human chromosome 7 map around the pro-alpha-2(1) collagen gene by long-range restriction mapping.
|
| Kere J, et al.
|
| Nucleic Acids Res 19 : 2755-2759. 1991
|
| 64 | COL1A1, COL1A2
|
| PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2.
|
| Baker R, et al.
|
| Nucleic Acids Res 19 : 4315. 1991
|
| 65 | EDS7A2, COL1A2
|
| Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII : further evidence of molecular homogeneity.
|
| D'Alessio M, et al.
|
| Am J Hum Genet 49 : 400-406. 1991
|
| 66 | COL1A2, EPO, GNB2
|
| Construction of human chromosome 7 YAC contigs around the COL1A2 and EPO genes and mapping of the GNB2 gene.
|
| Kere J, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1922-1923. 1991
|
| 67 | COL1A2, OI4A
|
| Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
|
| Bateman JF, et al.
|
| Biochem J 276 : 765-770. 1991
|
| 68 | COL1A2
|
| Pvull polymorphism at the COL1A2 locus.
|
| Constantinou CD, et al.
|
| Nucleic Acids Res 18 : 5577. 1990
|
| 69 | COL1A2
|
| PCR detection of a 38 bp length variant in the COL1A2 gene.
|
| Watson CJ, et al.
|
| Nucleic Acids Res 18 : 5925. 1990
|
| 70 | COL1A2, EDS7A2
|
| Structural and functional characterization of a splicing mutation in the Pro-alpha-2(I) collagen gene of an Ehlers-Danlos type VII patient.
|
| Weil D, et al.
|
| J Biol Chem 265 : 16007-16011. 1990
|
| 71 | COL1A2, CPA1, MET, PRSS1
|
| Regional localization of probes on human chromosome 7q.
|
| Naylor SL, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 669. 1987
|
| 72 | COL1A1, COL1A2
|
| Studies on the expression of type I collagen gene in a Finnish Marfan family.
|
| Pulkkinen L, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 677. 1987
|
| 73 | COL1A2
|
| RFLP-studies in Finnish Marfan families and polymorphism of type I collagen gene in the Finnish population.
|
| Ahti H, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 568. 1987
|
| 74 | COL1A1, COL1A2
|
| Genetic heterogeneity of mild osteogenesis imperfecta (O1 types I and IV) : linkage to COL1A1, COL1A2 and possibly other loci.
|
| Tsipouras P.
|
| (HGM9) Cytogenet Cell Genet 46 : 706. 1987
|
| 75 | COL1A2, COL3A1
|
| Exclusion of the alpha2(I) and alpha1(III) collagen genes as the mutant loci in a Marfan syndrome family.
|
| Dalgleish R, et al.
|
| J Med Genet 24 : 148-151. 1987
|
| 76 | COL1A2
|
| Length polymorphism in the pro-alpha-2 (1) collagen gene: an alternative explanation in a case of Marfan syndrome.
|
| Dalgleish R, et al.
|
| Hum Genet 73 : 91-92. 1986
|
| 77 | COL1A2
|
| Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.
|
| Tsipouras P, et al.
|
| Clin Genet 30 : 428-432. 1986
|
| 78 | COL1A2, OI4B
|
| Use to molecular haplotypes specific for the human pro-alpha-2 (I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.
|
| Falk CT, et al.
|
| Am J Hum Genet 38 : 269-279. 1986
|
| 79 | COL1A2
|
| Mutations linked to the pro î2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.
|
| Wallis G, et al.
|
| J Med Genet 23 : 411-416. 1986
|
| 80 | COL1A2, COL4A1, COL4A2
|
| Chromosomal mapping of collagen-genes by low stringency in situ hybridization.
|
| Retief AE, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 730. 1985
|
| 81 | COL1A2
|
| Two new polymorphic markers in the human pro-alpha-2(I) collagen gene.
|
| Brebner DK, et al.
|
| Hum Genet 70 : 25-27. 1985
|
| 82 | COL1A1, COL1A2
|
| Regional chromosome mapping of human collagen genes î2(I) and î1(I)(COLIA2 and COLIA1).
|
| Retief E, et al.
|
| Hum Genet 69 : 304-308. 1985
|
| 83 | COL1A2
|
| Detection of a high frequency RsaI polymorphism in the human pro-alpha-2 (I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.
|
| Grobler-Rabie AF, et al.
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