| 1 | COL1A1, ITM2A
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| Fibromodulin modulates myoblast differentiation by controlling calcium channel
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| Lee EJ, Nam JH, Choi I.
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| Biochem Biophys Res Commun. Sep 5;503(2):580-585. doi: 10.1016/j.bbrc.2018.06.041. Epub 2018 Jun 18. 2018
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| 2 | COL1A1, SP7
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| Osterix induces Col1a1 gene expression through binding to Sp1 sites in the bone enhancer and proximal promoter regions.
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| Ortuńo MJ, Susperregui AR, Artigas N, Rosa JL, Ventura F.
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| Bone 52(2):548-56. doi: 10.1016/j.bone.2012.11.007. Epub 2012 Nov 15.
2013
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| 3 | COL1A1, DFSP, PDGFB
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| Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans.
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| Walluks K, Chen Y, Woelfel C, Yang L, Cui T, Seliger C, Geier C, Knösel T, Hauke S, Petersen I.
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| Pathol Res Pract 209(1):30-5. doi: 10.1016/j.prp.2012.10.005. Epub 2012 Dec 1.
2013
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| 4 | COL1A1, RELA
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| The p65 subunit of NF-κB inhibits COL1A1 gene transcription in human dermal and scleroderma fibroblasts through its recruitment on promoter by protein interaction with transcriptional activators (c-Krox, Sp1, and Sp3).
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| Beauchef G, Bigot N, Kypriotou M, Renard E, Porée B, Widom R, Dompmartin-Blanchere A, Oddos T, Maquart FX, Demoor M, Boumediene K, Galera P.
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| J Biol Chem 287(5):3462-78. doi: 10.1074/jbc.M111.286443. Epub 2011 Dec 2.
2012
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| 5 | COL1A1, DFSP, PDGFB
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| Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.
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| Qiao J, Patel KU, López-Terrada D, Fang H.
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| Diagn Pathol 7:166. doi: 10.1186/1746-1596-7-166.
2012
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| 6 | 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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| 7 | 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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| 8 | COL1A1, DFSP, PDGFB
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| Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies.
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| Salgado R, Llombart B, M Pujol R, Fernández-Serra A, Sanmartín O, Toll A, Rubio L, Segura S, Barranco C, Serra-Guillén C, Yébenes M, Salido M, Traves V, Monteagudo C, Sáez E, Hernández T, de Álava E, Llombart-Bosch A, Solé F, Guillén C, Espinet B, López-Guerrero JA.
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| Genes Chromosomes Cancer 50(7):510-7. doi: 10.1002/gcc.20874. Epub 2011 Apr 11.
2011
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| 9 | COL1A1, GPATCH8
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| Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
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| Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K.
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| Hum Genet 130(5):671-83. doi: 10.1007/s00439-011-1006-9. Epub 2011 May 19.
2011
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| 10 | COL1A1, DFSP, PDGFB
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| Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans.
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| Nakanishi G, Shirai M, Kato T, Fujii N, Fujimoto N, Tanaka T, Shirafuji Y, Suzuki N, Otsuka M, Asagoe K, Iwatsuki K, Tanaka R, Fujimoto W, Hanawa F, Shimada S, Nakagawa Y, Tanioka M.
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| Eur J Dermatol 20(4):528-9. doi: 10.1684/ejd.2010.0986. Epub 2010 Apr 21. No abstract available.
2010
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| 11 | COL1A1
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| Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population.
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| Nakanishi H, Yamada R, Gotoh N, Hayashi H, Otani A, Tsujikawa A, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Saito K, Iida T, Matsuda F, Yoshimura N.
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| Invest Ophthalmol Vis Sci 50(2):544-50. Epub 2008 Oct 3.
2009
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| 12 | COL1A1
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| Haplotypes of promoter and intron 1 polymorphisms in the COLIA1 gene are associated with increased risk of osteoporosis.
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| Husted LB, Harslřf T, Gonzalez-Bofill N, Schmitz A, Carstens M, Stenkjaer L, Langdahl BL.
|
| Calcif Tissue Int 84(2):85-96. Epub 2008 Dec 13.
2009
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| 13 | 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.
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| Hum Mol Genet 18(3):463-71. Epub 2008 Nov 7.
2009
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| 14 | COL1A1
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| Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis.
|
| Jin H, van't Hof RJ, Albagha OM, Ralston SH.
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| Hum Mol Genet 18(15):2729-38. Epub 2009 May 9.
2009
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| 15 | COL1A1, CREB3L1
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| Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation.
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| Murakami T, Saito A, Hino S, Kondo S, Kanemoto S, Chihara K, Sekiya H, Tsumagari K, Ochiai K, Yoshinaga K, Saitoh M, Nishimura R, Yoneda T, Kou I, Furuichi T, Ikegawa S, Ikawa M, Okabe M, Wanaka A, Imaizumi K.
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| Nat Cell Biol 11(10):1205-11. Epub 2009 Sep 20.
2009
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| 16 | COL1A1, COL2A1
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| COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.
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| Metlapally R, Li YJ, Tran-Viet KN, Abbott D, Czaja GR, Malecaze F, Calvas P, Mackey D, Rosenberg T, Paget S, Zayats T, Owen MJ, Guggenheim JA, Young TL.
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| Invest Ophthalmol Vis Sci. 50(9):4080-6. 2009
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| 17 | COL1A1, PDGFB
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| Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans.
|
| Macarenco RS, Zamolyi R, Franco MF, Nascimento AG, Abott JJ, Wang X, Erickson-Johnson MR, Oliveira AM.
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| Genes Chromosomes Cancer 47(3):260-5. 2008
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| 18 | 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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| 19 | 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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| 20 | COL1A1
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| Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.
|
| Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ Jr, Fukushima K, Thys M, Camp GV, Smith RJ.
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| Clin Genet 71(5):406-14. 2007
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| 21 | COL1A1
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| The COL1A1 gene and high myopia susceptibility in Japanese.
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| Inamori Y, Ota M, Inoko H, Okada E, Nishizaki R, Shiota T, Mok J, Oka A, Ohno S, Mizuki N.
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| Hum Genet 122(2):151-7. Epub 2007 Jun 8. 2007
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| 22 | COL1A1, ICHO
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| Expanding the phenotypic spectrum of Caffey disease.
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| Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V.
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| Clin Genet 71(3):280-4.
2007
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| 23 | COL1A1, OI1A, OI2A, OI3A, OI4A
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| Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
|
| Cabral WA, Milgrom S, Letocha AD, Moriarty E, Marini JC.
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| J Med Genet 43(8):685-90. 2006
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| 24 | DFSP, COL1A1, PDGFB
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| Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization.
|
| Kaur S, Vauhkonen H, Bohling T, Mertens F, Mandahl N, Knuutila S.
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| Cytogenet Genome Res 115(3-4):283-8. 2006
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| 25 | 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
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| 26 | OIEDS, COL1A1
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| Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
|
| Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC.
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| J Biol Chem 280(19):19259-69. Epub 2005 Feb 22. 2005
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| 27 | COL1A1, ICHO
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| A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
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| Gensure RC, Makitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Juppner H.
|
| J Clin Invest 115(5):1250-7. 2005
|
| 28 | 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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| 29 | COL1A1, PDGFB
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| Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.
|
| Saeki H, Ohmatsu H, Hoashi T, Asano N, Idezuki T, Kawabata Y, Asahina A, Kikuchi K, Tamaki K.
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| Br J Dermatol 148(5):1028-31. 2003
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| 30 | COL1A1
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| Ocular hypertension in mice with a targeted type I collagen mutation.
|
| Aihara, M.; Lindsey, J. D.; Weinreb, R. N.
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| Invest. Ophthal. Vis. Sci. 44: 1581-1585 2003
|
| 31 | COL1A1, DDIT3, EWSR1, SUZ12, JAZF1, NR4A3, WT1
|
| Cytogenetics and molecular genetics of bone and soft-tissue tumors.
|
| Sandberg AA.
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| Am J Med Genet 115(3):189-93. 2002
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| 32 | COL1A1, PDGFB
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| Fusion of COL1A1 exon 29 with PDGFB exon 2 in a der(22)t(17;22) in a pediatric giant cell fibroblastoma with a pigmented Bednar tumor component. Evidence for age-related chromosomal pattern in dermatofibrosarcoma protuberans and related tumors.
|
| Maire G, Martin L, Michalak-Provost S, Gattas GJ, Turc-Carel C, Lorette G, Pedeutour F.
|
| Cancer Genet Cytogenet 134(2):156-61. 2002
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| 33 | COL1A1, MATN2
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| Matrilin-2 interacts with itself and with other extracellular matrix proteins.
|
| Piecha D, Wiberg C, Morgelin M, Reinhardt DP, Deak F, Maurer P, Paulsson M.
|
| Biochem J 367(Pt 3):715-21. 2002
|
| 34 | COL1A1
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| C-propeptide region of human pro alpha 1 type 1 collagen interacts with thioredoxin.
|
| Matsumoto K, Masutani H, Nishiyama A, Hashimoto S, Gon Y, Horie T, Yodoi J.
|
| Biochem Biophys Res Commun. 295(3):663-7. 2002
|
| 35 | COL1A1, OI3A
|
| G76E Substitution in Type I Collagen Is the First Nonlethal Glutamic Acid Substitution in the alpha1(I) Chain and Alters Folding of the N-terminal End of the Helix.
|
| Cabral WA, Chernoff EJ, Marini JC.
|
| Mol Genet Metab 72(4):326-35. 2001
|
| 36 | COL1A2, COL1A1
|
| 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.
|
| Hum Mutat 18(4):319-26. 2001
|
| 37 | COL1A1
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| Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genes.
|
| Brown MA, Haughton MA, Grant SF, Gunnell AS, Henderson NK, Eisman JA.
|
| J Bone Miner Res 16(4):758-64. 2001
|
| 38 | COL1A1
|
| Type I collagen stabilization of matrix metalloproteinase-2.
|
| Ellerbroek SM, Wu YI, Stack MS.
|
| Arch Biochem Biophys. 390(1):51-6. 2001
|
| 39 | COL1A1, OI3A
|
| Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.
|
| Nuytinck L, Tukel T, Kayserili H, Apak MY, De Paepe A.
|
| J Med Genet 37(5):371-5. 2000
|
| 40 | COL1A1, EDS1C
|
| Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
|
| Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A.
|
| Am J Hum Genet 66(4):1398-402. 2000
|
| 41 | 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.
|
| Mol Cell Biol 19(1):1-11. Review. No abstract available 1999
|
| 42 | OI1A, OI2A, COL1A1
|
| Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
|
| Schwarze U, et al.
|
| Am J Hum Genet 65(2):336-44. 1999
|
| 43 | COL1A1
|
| The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB.
|
| Shimizu A, O'Brien KP, Sjöblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A.
|
| Cancer Res. 59(15):3719-23. 1999
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| 44 | COL1A1, OI1A, OI2A, OI3A
|
| Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I : identification of common sequences of null-allele mutations.
|
| Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ.
|
| Am J Hum Genet 62(1):98-110. 1998
|
| 45 | COL1A1
|
| An Sp1 binding site polymorphism in the COLIA1 gene predicts osteoporotic fractures in both men and women.
|
| Langdahl BL, Ralston SH, Grant SF, Eriksen EF.
|
| J Bone Miner Res 13 : 1384-1389. 1998
|
| 46 | COL1A1, DFSP, PDGFB
|
| Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans.
|
| Greco A, et al.
|
| Oncogene 17 : 1313-1319. 1998
|
| 47 | ATG12, COL1A1, NID2
|
| Nidogen-2: a new basement membrane protein with diverse binding properties.
|
| Kohfeldt E, Sasaki T, Gohring W, Timpl R.
|
| J Mol Biol 282(1):99-109. 1998
|
| 48 | COL1A1
|
| MMP-9 from TNF alpha-stimulated keratinocytes binds to cell membranes and type I collagen: a cause for extended matrix degradation in inflammation?
|
| Mäkelä M, Salo T, Larjava H.
|
| Biochem Biophys Res Commun. 253(2):325-35. 1998
|
| 49 | COL1A1, DFSP, PDGFB
|
| Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
|
| Simon MP, et al.
|
| Nat Genet 15 : 95-98. 1997
|
| 50 | COL1A1, OI1A, OI3A
|
| Serine for glycine substitutions in the C-terminal third of the alpha1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
|
| Lund AM, et al.
|
| Hum Mutat 9 : 378-382. 1997
|
| 51 | 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.
|
| Hum Mutat 9 : 300-315. 1997
|
| 52 | 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
|
| 53 | 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
|
| 54 | OI1A, COL1A1
|
| Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
|
| Redford-Badwal DA, et al.
|
| J Clin Invest 97 : 1035-1040. 1996
|
| 55 | OI4A, COL1A1
|
| Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta : comparison to previous cases with the same mutation.
|
| Zhuang J, et al.
|
| Am J Med Genet 61 : 111-116. 1996
|
| 56 | OI3A, COL1A1
|
| Mutation in the carboxy-terminal propeptide of the Proalpha1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III) : possible implications for protein folding.
|
| Oliver JE, et al.
|
| Hum Mutat 7 : 318-326. 1996
|
| 57 | COL1A1, OI1A
|
| Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell Strains.
|
| Willing MC, et al.
|
| Am J Hum Genet 59 : 799-809. 1996
|
| 58 | COL1A1
|
| Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.
|
| Grant SFA, et al.
|
| Nat Genet 14 : 203-205. 1996
|
| 59 | COL1A1, OI4A
|
| Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.
|
| Lund AM, et al.
|
| Clin Genet 50 : 304-309. 1996
|
| 60 | COL1A1, OI3A
|
| Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta.
|
| Wang Q, et al.
|
| J Biol Chem 271 : 28617-28623. 1996
|
| 61 | COL1A1
|
| Recurrence of osteogenesis imperfecta because of paternal mosaicism : Gly862-Ser substitution in a type I collagen gene (COL1A1).
|
| Namikawa C, et al.
|
| Hum Genet 95 : 666-670. 1995
|
| 62 | COL1A1
|
| Interaction of biglycan with type I collagen.
|
| Schönherr E, Witsch-Prehm P, Harrach B, Robenek H, Rauterberg J, Kresse H.
|
| J Biol Chem. 270(6):2776-83. 1995
|
| 63 | COL1A1, OI3A
|
| Substitution of glycine-172 by arginine in the alpha1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
|
| Mackay K, et al.
|
| Hum Mutat 3 : 324-326. 1994
|
| 64 | COL1A1
|
| Substitution of cysteine for glycine-946 in the alpha1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.
|
| Kurosaka D, et al.
|
| J Biochem (Tokyo) 115 : 853-857. 1994
|
| 65 | COL1A1
|
| Osteogenesis imperfecta type I : molecular heterogeneity for COLIAI null alleles of type I collagen.
|
| Willing MC, et al.
|
| Am J Hum Genet 55 : 638-647. 1994
|
| 66 | 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
|
| 67 | COL1A1
|
| A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated proalpha(1) chains with a non-collagenous insertion destabilizing the triple helix.
|
| Bateman JF, et al.
|
| Biochem J 302 : 729-735. 1994
|
| 68 | COL1A1
|
| Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1).
|
| Pereira, R.; Halford, K.; Sokolov, B. P.; Khillan, J. S.; Prockop, D. J.
|
| J. Clin. Invest. 93: 1765-1769, 1994. 1994
|
| 69 | COL1A1
|
| Gly85 to val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
|
| Valli M, et al.
|
| Eur J Biochem 217 : 77-82. 1993
|
| 70 | COL1A1
|
| A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
|
| Wirtz MK, et al.
|
| Connect Tissue Res 29 : 1-11. 1993
|
| 71 | COL1A1, OI2A
|
| SSCP detection of a Gly565Val substitution in the proalpha1(I) collagen chain resulting in osteogenesis imperfecta type II.
|
| Mackay K, et al.
|
| Hum Genet 91 : 439-444. 1993
|
| 72 | OI2A, COL1A1
|
| Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-Ala substitution in the alpha1(I) chain.
|
| Valli M, et al.
|
| Eur J Biochem 211 : 415-420. 1993
|
| 73 | COL1A1
|
| An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha1 chain of type 1 collagen : application to four patients with osteogenesis imperfecta.
|
| Mackay K, et al.
|
| Hum Mol Genet 2 : 1155-1160. 1993
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| 74 | COL1A1, OI1A
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| Paternal mosaicism for a COL1A1 dominant mutation (alpha1 Ser-415) causes recurrent osteogenesis imperfecta.
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| Mottes M, et al.
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| Hum Mutat 2 : 196-204. 1993
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| 75 | COL1A1, OI2A
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| Mutations in the carboxyl-terminal propeptide of the Pro alpha1 (I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
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| Chessler SD, et al.
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| J Biol Chem 268 : 18218-18225. 1993
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| 76 | COL1A1, OI1A
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| Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
|
| Stover ML, et al.
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| J Clin Invest 92 : 1994-2002. 1993
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| 77 | COL1A1
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| Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1): a breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.
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| Pereira, R.; Khillan, J. S.; Helminen, H. J.; Hume, E. L.; Prockop, D. J.
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| J. Clin. Invest. 91: 709-716, 1993. 1993
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| 78 | OI1A, COL1A1
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| An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the Pro-alpha-1(I) chain of type I collagen.
|
| Shapiro JR, et al.
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| J Clin Invest 89 : 567-573. 1992
|
| 79 | OI1A, COL1A1
|
| Mild dominant osteogenesis imperfecta with intrafamilial variability : the cause is a serine for glycine alpha1(I) 901 substitution in a type-1 collagen gene.
|
| Mottes M, et al.
|
| Hum Genet 89 : 480-484. 1992
|
| 80 | OI1A, COL1A1
|
| Osteogenesis imperfecta type I is commonly due to a COLIAI null allele of type I collagen.
|
| Willing MC, et al.
|
| Am J Hum Genet 51 : 508-515. 1992
|
| 81 | COL1A1
|
| Expression of mutant alpha(I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
|
| Chipman SD, et al.
|
| J Bone Miner Res 7 : 793-805. 1992
|
| 82 | COL1A1, OI3A
|
| Characterization of 3 osteogenesis imperfecta collagen alpha1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.
|
| Bateman JF, et al.
|
| Biochem J 288 : 131-144. 1992
|
| 83 | COL1A1, OI3A
|
| Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
|
| Pruchno CJ, et al.
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| Hum Genet 87 : 33-40. 1991
|
| 84 | COL1A1
|
| PCR detection of a COL1A1 RsaI RFLP.
|
| Rose J, et al.
|
| Nucleic Acids Res 19 : 3163. 1991
|
| 85 | 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
|
| 86 | OI1A, COL1A1
|
| The substitution of arginine for glycine 85 of the alpha1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type 1 collagen.
|
| Deak SB, et al.
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| J Biol Chem 266 : 21827-21832. 1991
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| 87 | COL1A1
|
| G to A polymorphism in exon 45 of the COL1A1 gene.
|
| Sokolov BP, et al.
|
| Nucleic Acids Res 19 : 4302. 1991
|
| 88 | COL1A1, OI2A
|
| Substitutions for glycine alpha1-637 and glycine alpha2-694 of type I procollagen in lethal osteogenesis imperfecta.
|
| Tsuneyoshi T, et al.
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| J Biol Chem 266 : 15608-15613. 1991
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| 89 | COL1A1, EDS1C
|
| Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.
|
| Sokolov BP, Prytkov AN, Tromp G, Knowlton RG, Prockop DJ.
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| Hum Genet 88(2):125-9.
1991
|
| 90 | COL1A1, OI2A
|
| The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro-alpha-1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
|
| Cole WG, et al.
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| J Med Genet 27 : 545-551. 1990
|
| 91 | COL1A1
|
| A sequence polymorphism in the 3'-nontranslated region of the pro-alpha-1 chain of type procollagen.
|
| Westerhausen AI, et al.
|
| Nucleic Acids Res 18 : 4968. 1990
|
| 92 | COL1A1
|
| A HaeIII RFLP in COL1A1.
|
| Mackay K, et al.
|
| Nucleic Acids Res 18 : 5926. 1990
|
| 93 | COL1A1
|
| The alpha 2 beta 1 integrin cell surface collagen receptor binds to the alpha 1 (I)-CB3 peptide of collagen.
|
| Staatz WD, Walsh JJ, Pexton T, Santoro SA.
|
| J Biol Chem. 265(9):4778-81. 1990
|
| 94 | COL1A1, EDS7A1
|
| A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome Type VII.
|
| Weil D, et al.
|
| EMBO J 8 : 1705-1710. 1989
|
| 95 | COL1A1
|
| A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro-alpha1(I) propeptide of type I collagen in osteogenesis imperfecta.
|
| Bateman JF, et al.
|
| J Biol Chem 264 : 10960-10964. 1989
|
| 96 | OI4A, COL1A1
|
| Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
|
| Marini JC, et al.
|
| J Biol Chem 264 : 11893-11900. 1989
|
| 97 | COL1A1, GH@
|
| A centromere-based linkage group on the long arm of human chromosome 17.
|
| Tsipouras P, et al.
|
| Cytogenet Cell Genet 47 : 109-110. 1988
|
| 98 | 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
|
| 99 | 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
|
| 100 | GH@, COL1A1
|
| Linkage of human genes encoding growth hormone and the pro î1 (I) chain of type I collagen.
|
| Tsipouras P, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 705. 1987
|
| 101 | COL1A1
|
| A structural mutation of the collagen î1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta.
|
| Bateman JF, et al.
|
| J Biol Chem 262 : 4445-4451. 1987
|
| 102 | COL1A1
|
| Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the î1(I) chain of type I collagen.
|
| Bateman JF, et al.
|
| J Biol Chem 262 : 7021-7027. 1987
|
| 103 | NF1, COL1A1
|
| Chromosome 17 markers and von Recklinghausen neurofibromatosis : a genetic linkage study in a British population.
|
| Upadhyaya M, Sarfarazi M, Huson SM, Stephens K, Broadhead W, Harper PS.
|
| Genomics 1(4):358-60. 1987
|
| 104 | COL1A1
|
| Isolation and characterization of a collagen binding domain in human von Willebrand factor.
|
| Pareti FI, Fujimura Y, Dent JA, Holland LZ, Zimmerman TS, Ruggeri ZM.
|
| J Biol Chem. 261(32):15310-5. 1986
|
| 105 | 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
|
| 106 | COL1A1
|
| Confirmation that the type I collagen gene on chromosome 17 is COL1A1(alpha 1(I)), using a human genomic probe.
|
| Solomon E, et al.
|
| Ann Hum Genet 48 : 39-42. 1984
|
| 107 | COL1A1
|
| Human type I procollagen genes are located on different chromosomes.
|
| Huerre C, Junien C, Weil D, Chu ML, Morabito M, Van Cong N, Myers JC, Foubert C, Gross MS, Prockop DJ, Boue A, Kaplan JC, de la Chapelle A, Ramirez F.
|
| Proc Natl Acad Sci U S A 79 : 6627-6630. 1982
|
| 108 | COL1A1
|
| Regional chromosome mapping of the human skin type I procollagen gene using adenovirus 12-fragmentation of human-mouse somatic cell hybrids.
|
| Church RL, et al.
|
| Cytogenet Cell Genet 27 : 24-30. 1980
|
| 109 | COL1A1
|
| Phenotype stabilisation and integration of transferred material in chromosome mediated gene transfer.
|
| Klobutcher LA, et al.
|
| Nature 280 : 657-660. 1979
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| 110 | COL1A1
|
| Genetics of the connective tissue proteins: assignment of the gene for human type 1 procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids.
|
| Sundar Raj CV, et al.
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| Proc Natl Acad Sci U S A 74 : 4444-4448. 1977
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