pAb; Rabbit anti Human Collagen I Antibody; WB; Unconjugated
| SKU | Size | Availability | Price | Qty |
|---|---|---|---|---|
| Ab097170-10μl | 10μl | In stock | $66.90 | |
| Ab097170-20μl | 20μl | Available within 8-12 weeks(?) Production requires sourcing of materials. We appreciate your patience and understanding. | $99.90 | |
| Ab097170-50μl | 50μl | In stock | $199.90 | |
| Ab097170-100μl | 100μl | In stock | $299.90 | |
| Ab097170-1ml | 1ml | Available within 8-12 weeks(?) Production requires sourcing of materials. We appreciate your patience and understanding. | $2,299.90 |
pAb; Rabbit anti Human Collagen I Antibody; WB; Unconjugated
| Product Name | Collagen I Antibody - Primary antibody, specific to COL1A1, Rabbit IgG |
|---|---|
| Synonyms | Collagen type I; Alpha 1 type I collagen; Alpha 2 type I collagen; COL1A1; COL1A2; Collagen I alpha 1 polypeptide; Collagen I alpha 2 polypeptide; Collagen Of Skin Tendon And Bone; Collagen Type 1; Collagen type I alpha 1; Collagen type I alpha 2; OI4; Os |
| Specifications & Purity | ExactAb™, Validated, Carrier Free, Azide Free, High performance, Lot by Lot |
| Host species | Rabbit |
| Specificity | COL1A1 |
| Immunogen | Recombinant COL1a1 expressed in E.coli (AA 1218-1440) |
| Positive Control | WB: A549 and SK-N-SH cell lysates. |
| Conjugation | Unconjugated |
| Grade | Azide Free, Carrier Free, ExactAb™, High Performance, Validated |
| Product Description | Rabbit anti Human Collagen I Antibody, Polyclonal, could be used for WB and so on. |
| Isotype | Rabbit IgG |
|---|---|
| SDS-PAGE | 150 kDa |
| Purification Method | Protein A purified |
| Form | Liquid |
| Concentration | Lot by Lot |
| Storage Temp | Store at -20°C,Avoid repeated freezing and thawing |
| Shipped In | Ice chest + Ice pads |
| Stability And Storage | Store at 4°C short term (1-2 weeks). Store at -20°C long term (24 months). Upon delivery aliquot. Avoid freeze/thaw cycle. |
Collagen I Antibody (Ab097170) - Western Blot
All lanes: Collagen I Antibody (Ab097170) at 1/2000 dilution
Samples: Lysates at 20 µg per lane
Secondary: Goat Anti-Rabbit IgG H&L (HRP) (Ab170144) at 1/10000 dilution
Predicted band size: 139 kDa
Observed band size: 31, 142, 215 kDa
Exposure time: 54.4 s
| Activity Type | Activity Value -log(M) | Mechanism of Action | Activity Reference | Publications (PubMed IDs) |
|---|
| Application | Dilution info |
|---|---|
| WB |
0.01-2 µg/mL
|
Enter Lot Number to search for COA:
Find and download the COA for your product by matching the lot number on the packaging.
| Lot Number | Certificate Type | Date | Item |
|---|---|---|---|
 ZJ24F0404303 | Certificate of Analysis | Apr 09, 2024 | Ab097170 |
| ZJ24F0404140 | Certificate of Analysis | Apr 03, 2024 | Ab097170 |
| ZJ23F1201985 | Certificate of Analysis | Dec 13, 2023 | Ab097170 |
| ZJ23F1201986 | Certificate of Analysis | Dec 13, 2023 | Ab097170 |
| 1. Wallis, G A GA, Kadler, K E KE, Starman, B J BJ and Byers, P H PH.. (1992) A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.. The Journal of biological chemistry, (15): [PMID:1460047] |
| 2. Bonaventure, J J, Cohen-Solal, L L, Lasselin, C C and Maroteaux, P P.. (1992) A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.. Human genetics, [PMID:1511982] |
| 3. Cole, W G WG, Patterson, E E, Bonadio, J J, Campbell, P E PE and Fortune, D W DW.. (1992) The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.. Journal of medical genetics, [PMID:1613761] |
| 4. Mottes, M M and 7 more authors.. (1992) Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.. Human genetics, [PMID:1634225] |
| 5. Deak, S B SB and 6 more authors.. (1991) The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.. The Journal of biological chemistry, (15): [PMID:1718984] |
| 6. Shapiro, J R JR and 6 more authors.. (1992) 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.. The Journal of clinical investigation, [PMID:1737847] |
| 7. Nicholls, A C AC, Oliver, J J, Renouf, D V DV, Keston, M M and Pope, F M FM.. (1991) Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.. Journal of medical genetics, [PMID:1770532] |
| 8. Sokolov, B P BP, Constantinou, C D CD, Tsuneyoshi, T T, Zhuang, J P JP and Prockop, D J DJ.. (1991) G to A polymorphism in exon 45 of the COL1A1 gene.. Nucleic acids research, (11): [PMID:1870989] |
| 9. Tsuneyoshi, T T, Westerhausen, A A, Constantinou, C D CD and Prockop, D J DJ.. (1991) Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.. The Journal of biological chemistry, (25): [PMID:1874719] |
| 10. Byers, P H PH, Wallis, G A GA and Willing, M C MC.. (1991) Osteogenesis imperfecta: translation of mutation to phenotype.. Journal of medical genetics, [PMID:1895312] |
| 11. Hawkins, J R JR, Superti-Furga, A A, Steinmann, B B and Dalgleish, R R.. (1991) A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.. The Journal of biological chemistry, (25): [PMID:1939261] |
| 12. Steinmann, B B, Westerhausen, A A, Constantinou, C D CD, Superti-Furga, A A and Prockop, D J DJ.. (1991) Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.. The Biochemical journal, (1): [PMID:1953667] |
| 13. Valli, M M and 8 more authors.. (1991) A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.. The Journal of biological chemistry, (25): [PMID:1988452] |
| 14. Määttä, A A, Bornstein, P P and Penttinen, R P RP.. (1991) Highly conserved sequences in the 3'-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins.. FEBS letters, (11): [PMID:1995349] |
| 15. Kuivaniemi, H H, Tromp, G G and Prockop, D J DJ.. (1991) Mutations in collagen genes: causes of rare and some common diseases in humans.. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, [PMID:2010058] |
| 16. Zhuang, J P JP, Constantinou, C D CD, Ganguly, A A and Prockop, D J DJ.. (1991) A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.. American journal of human genetics, [PMID:2035536] |
| 17. Kadler, K E KE and 5 more authors.. (1991) A type I collagen with substitution of a cysteine for glycine-748 in the alpha 1(I) chain copolymerizes with normal type I collagen and can generate fractallike structures.. Biochemistry, (21): [PMID:2036375] |
| 18. Pruchno, C J CJ and 6 more authors.. (1991) Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.. Human genetics, [PMID:2037280] |
| 19. Westerhausen, A A, Kishi, J J and Prockop, D J DJ.. (1990) Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blocks.. The Journal of biological chemistry, (15): [PMID:2116413] |
| 20. Bätge, B B and 6 more authors.. (1990) A critical crosslink region in human-bone-derived collagen type I. Specific cleavage site at residue Leu95.. European journal of biochemistry, (28): [PMID:2169412] |
| 21. Wallis, G A GA, Starman, B J BJ, Schwartz, M F MF and Byers, P H PH.. (1990) Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.. The Journal of biological chemistry, (25): [PMID:2211725] |
| 22. Willing, M C MC, Cohn, D H DH and Byers, P H PH.. (1990) Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.. The Journal of clinical investigation, [PMID:2295701] |
| 23. Wirtz, M K MK and 6 more authors.. (1990) In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.. The Journal of biological chemistry, (15): [PMID:2318855] |
| 24. Wallis, G A GA, Starman, B J BJ, Zinn, A B AB and Byers, P H PH.. (1990) Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.. American journal of human genetics, [PMID:2339700] |
| 25. Labhard, M E ME and Hollister, D W DW.. (1990) Segmental amplification of the entire helical and telopeptide regions of the cDNA for human alpha 1 (I) collagen.. Matrix (Stuttgart, Germany), [PMID:2374517] |
| 26. Patterson, E E, Smiley, E E and Bonadio, J J.. (1989) RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation.. The Journal of biological chemistry, (15): [PMID:2470760] |
| 27. Pack, M M, Constantinou, C D CD, Kalia, K K, Nielsen, K B KB and Prockop, D J DJ.. (1989) Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.. The Journal of biological chemistry, (25): [PMID:2511192] |
| 28. Marini, J C JC, Grange, D K DK, Gottesman, G S GS, Lewis, M B MB and Koeplin, D A DA.. (1989) Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.. The Journal of biological chemistry, (15): [PMID:2745420] |
| 29. Weil, D D and 6 more authors.. (1989) 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.. The EMBO journal, [PMID:2767050] |
| 30. Lamande, S R SR, Dahl, H H HH, Cole, W G WG and Bateman, J F JF.. (1989) Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.. The Journal of biological chemistry, (25): [PMID:2777764] |
| 31. Starman, B J BJ and 7 more authors.. (1989) Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.. The Journal of clinical investigation, [PMID:2794057] |
| 32. Rossouw, C M CM and 5 more authors.. (1987) DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription.. The Journal of biological chemistry, (5): [PMID:2822714] |
| 33. D'Alessio, M M and 5 more authors.. (1988) Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1). Gene, (15): [PMID:2843432] |
| 34. Chu, M L ML, de Wet, W W, Bernard, M M and Ramirez, F F.. (1985) Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts.. The Journal of biological chemistry, (25): [PMID:2857713] |
| 35. Constantinou, C D CD, Nielsen, K B KB and Prockop, D J DJ.. (1989) A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.. The Journal of clinical investigation, [PMID:2913053] |
| 36. Chu, M L ML, Gargiulo, V V, Williams, C J CJ and Ramirez, F F.. (1985) Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.. The Journal of biological chemistry, (25): [PMID:2981843] |
| 37. Cohn, D H DH, Byers, P H PH, Steinmann, B B and Gelinas, R E RE.. (1986) Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:3016737] |
| 38. Bateman, J F JF, Chan, D D, Walker, I D ID, Rogers, J G JG and Cole, W G WG.. (1987) Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.. The Journal of biological chemistry, (25): [PMID:3108247] |
| 39. Cohn, D H DH and 8 more authors.. (1988) Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.. The Journal of biological chemistry, (15): [PMID:3170557] |
| 40. Tromp, G G and 6 more authors.. (1988) Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen.. The Biochemical journal, (1): [PMID:3178743] |
| 41. Labhard, M E ME, Wirtz, M K MK, Pope, F M FM, Nicholls, A C AC and Hollister, D W DW.. (1988) A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta.. Molecular biology & medicine, [PMID:3244312] |
| 42. Mäkelä, J K JK, Raassina, M M, Virta, A A and Vuorio, E E.. (1988) Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain.. Nucleic acids research, (11): [PMID:3340531] |
| 43. Bateman, J F JF, Lamande, S R SR, Dahl, H H HH, Chan, D D and Cole, W G WG.. (1988) Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.. The Journal of biological chemistry, (25): [PMID:3403550] |
| 44. Bornstein, P P, McKay, J J, Morishima, J K JK, Devarayalu, S S and Gelinas, R E RE.. (1987) Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1(I) collagen gene.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:3480516] |
| 45. Vogel, B E BE, Minor, R R RR, Freund, M M and Prockop, D J DJ.. (1987) A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.. The Journal of biological chemistry, (25): [PMID:3667599] |
| 46. Barsh, G S GS, Roush, C L CL, Bonadio, J J, Byers, P H PH and Gelinas, R E RE.. (1985) Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.. Proceedings of the National Academy of Sciences of the United States of America, [PMID:3857621] |
| 47. Morgan, P H PH, Jacobs, H G HG, Segrest, J P JP and Cunningham, L W LW.. (1970) A comparative study of glycopeptides derived from selected vertebrate collagens. A possible role of the carbohydrate in fibril formation.. The Journal of biological chemistry, (10): [PMID:4319110] |
| 48. Click, E M EM and Bornstein, P P.. (1970) Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen.. Biochemistry, (24): [PMID:5529814] |
| 49. Chu, M L ML, Myers, J C JC, Bernard, M P MP, Ding, J F JF and Ramirez, F F.. (1982) Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain.. Nucleic acids research, (11): [PMID:6183642] |
| 50. Chu, M L ML and 7 more authors.. (1984) Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons.. Nature, [PMID:6462220] |
| 51. Bernard, M P MP and 5 more authors.. (1983) Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.. Biochemistry, (25): [PMID:6689127] |
| 52. Sztrolovics, R R, Glorieux, F H FH, Travers, R R, van der Rest, M M and Roughley, P J PJ.. () Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.. Bone, [PMID:7520724] |
| 53. Valli, M M and 7 more authors.. (1993) Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.. European journal of biochemistry, (1): [PMID:7679635] |
| 54. Mackay, K K, Byers, P H PH and Dalgleish, R R.. (1993) An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.. Human molecular genetics, [PMID:7691343] |
| 55. Forlino, A A and 6 more authors.. (1994) Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.. Human molecular genetics, [PMID:7881420] |
| 56. Kurosaka, D D and 6 more authors.. (1994) Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.. Journal of biochemistry, [PMID:7961597] |
| 57. Lightfoot, S J SJ, Atkinson, M S MS, Murphy, G G, Byers, P H PH and Kadler, K E KE.. (1994) Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.. The Journal of biological chemistry, (2): [PMID:7982948] |
| 58. Mackay, K K, De Paepe, A A, Nuytinck, L L and Dalgleish, R R.. (1994) Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.. Human mutation, [PMID:8019571] |
| 59. Marini, J C JC, Lewis, M B MB, Wang, Q Q, Chen, K J KJ and Orrison, B M BM.. (1993) 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.. The Journal of biological chemistry, (5): [PMID:8094076] |
| 60. Mackay, K K, Lund, A M AM, Raghunath, M M, Steinmann, B B and Dalgleish, R R.. (1993) SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.. Human genetics, [PMID:8100209] |
| 61. Valli, M M and 7 more authors.. (1993) Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.. European journal of biochemistry, (1): [PMID:8223589] |
| 62. Wirtz, M K MK and 7 more authors.. (1993) 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.. Connective tissue research, [PMID:8339541] |
| 63. Chessler, S D SD, Wallis, G A GA and Byers, P H 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.. The Journal of biological chemistry, (25): [PMID:8349697] |
| 64. Chessler, S D SD and Byers, P H PH.. (1993) BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.. The Journal of biological chemistry, (25): [PMID:8349698] |
| 65. Mottes, M M and 7 more authors.. (1993) Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.. Human mutation, [PMID:8364588] |
| 66. Bateman, J F JF and 5 more authors.. (1993) Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.. American journal of medical genetics, (15): [PMID:8456808] |
| 67. Marini, J C JC, Lewis, M B MB and Chen, K K.. (1993) Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.. American journal of medical genetics, (15): [PMID:8456809] |
| 68. Zhuang, J J, Tromp, G G, Kuivaniemi, H H, Castells, S S and Prockop, D J DJ.. (1996) 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.. American journal of medical genetics, (11): [PMID:8669434] |
| 69. Oliver, J E JE, Thompson, E M EM, Pope, F M FM and Nicholls, A C AC.. (1996) Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.. Human mutation, [PMID:8723681] |
| 70. Nuytinck, L L and 5 more authors.. (1996) 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.. Human genetics, [PMID:8786074] |
| 71. Grant, S F SF and 5 more authors.. (1996) Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.. Nature genetics, [PMID:8841196] |
| 72. Simon, M P MP and 16 more authors.. (1997) Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.. Nature genetics, [PMID:8988177] |
| 73. Kuivaniemi, H H, Tromp, G G and Prockop, D J 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.. Human mutation, [PMID:9101290] |
| 74. Lund, A M AM, Skovby, F F and Schwartz, M M.. (1997) Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.. Human mutation, [PMID:9101304] |
| 75. Lund, A M AM, Skovby, F F and Schwartz, M M.. (1997) (G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?. Human mutation, [PMID:9143923] |
| 76. Byers, P H PH and 11 more authors.. (1997) 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.. American journal of medical genetics, (3): [PMID:9295084] |
| 77. Körkkö, J J and 5 more authors.. (1998) 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.. American journal of human genetics, [PMID:9443882] |
| 78. Sarafova, A P AP and 7 more authors.. (1998) Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.. Human mutation, [PMID:9600458] |
| 79. Lund, A M AM, Aström, E E, Söderhäll, S S, Schwartz, M M and Skovby, F F.. (1999) Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.. Human mutation, [PMID:10408781] |
| 80. Mottes, M M and 5 more authors.. (1998) Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.. Human mutation, [PMID:10627137] |
| 81. Nuytinck, L L and 5 more authors.. (2000) Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.. American journal of human genetics, [PMID:10739762] |
| 82. Chiu, Chung-Jung CJ and 5 more authors.. (2002) Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, [PMID:12101112] |
| 83. Sandberg, Avery A AA, Anderson, William D WD, Fredenberg, Christine C and Hashimoto, Hiroshi H.. (2003) Dermatofibrosarcoma protuberans of breast.. Cancer genetics and cytogenetics, (1): [PMID:12660034] |
| 84. Lindsey, Merry L ML and 9 more authors.. (2003) Effect of a cleavage-resistant collagen mutation on left ventricular remodeling.. Circulation research, (8): [PMID:12855673] |
| 85. Stefanovic, Branko B, Stefanovic, Lela L, Schnabl, Bernd B, Bataller, Ramon R and Brenner, David A DA.. (2004) TRAM2 protein interacts with endoplasmic reticulum Ca2+ pump Serca2b and is necessary for collagen type I synthesis.. Molecular and cellular biology, [PMID:14749390] |
| 86. Cabral, Wayne A WA and 8 more authors.. (2005) Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.. The Journal of biological chemistry, (13): [PMID:15728585] |
| 87. Gensure, Robert C RC and 13 more authors.. (2005) A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.. The Journal of clinical investigation, [PMID:15864348] |
| 88. Aerts, Marijke M, Van Holsbeke, Caroline C, de Ravel, Thomy T and Devlieger, Roland R.. (2006) Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.. Prenatal diagnosis, [PMID:16566045] |
| 89. Wang, Zhuo Z and 5 more authors.. (2006) [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].. Zhonghua yi xue za zhi, (17): [PMID:16638323] |
| 90. Lee, Kwang-Soo KS and 9 more authors.. (2006) Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.. Human mutation, [PMID:16705691] |
| 91. Pollitt, Rebecca R and 6 more authors.. (2006) Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.. Human mutation, [PMID:16786509] |
| 92. Venturi, G G and 7 more authors.. (2006) Osteogenesis imperfecta: clinical, biochemical and molecular findings.. Clinical genetics, [PMID:16879195] |
| 93. Cabral, Wayne A WA and 9 more authors.. (2007) Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.. Human mutation, [PMID:17206620] |
| 94. Malfait, Fransiska F and 7 more authors.. (2007) Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.. Human mutation, [PMID:17211858] |
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