-
1
-
-
0025872761
-
Sequence specific thermal stability of the collagen triple helix
-
Bächinger HP, Davis JM (1991) Sequence specific thermal stability of the collagen triple helix. Int J Biol Macromol 13: 152-156
-
(1991)
Int J Biol Macromol
, vol.13
, pp. 152-156
-
-
Bächinger, H.P.1
Davis, J.M.2
-
2
-
-
0027389056
-
Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen
-
Bächinger HP, Morris NP, Davis JM (1993) Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen. Am J Med Genet 45:152-162
-
(1993)
Am J Med Genet
, vol.45
, pp. 152-162
-
-
Bächinger, H.P.1
Morris, N.P.2
Davis, J.M.3
-
3
-
-
0023685746
-
Substitution of arginine for glycine 667 in the collagen α1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
-
Bateman JF, Lamande SR, Dahl H-HM, Chan D, Cole WG (1988) Substitution of arginine for glycine 667 in the collagen α1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem 263:11627-11630
-
(1988)
J Biol Chem
, vol.263
, pp. 11627-11630
-
-
Bateman, J.F.1
Lamande, S.R.2
Dahl, H.-H.M.3
Chan, D.4
Cole, W.G.5
-
4
-
-
0026492532
-
Characterisation of three osteogenesis imperfecia collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
-
Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG (1992) Characterisation of three osteogenesis imperfecia collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity. Biochem J 288: 131-135
-
(1992)
Biochem J
, vol.288
, pp. 131-135
-
-
Bateman, J.F.1
Moeller, I.2
Hannagan, M.3
Chan, D.4
Cole, W.G.5
-
5
-
-
0021996663
-
Altered triple helical structure of type I procollagen in lethal perinatal osteosenesis imperfecta
-
Bonadio J, Holbrook HA, Gelinas RE, Jacobs J, Byers PH (1985) Altered triple helical structure of type I procollagen in lethal perinatal osteosenesis imperfecta. J Biol Chem 260: 1734-1742
-
(1985)
J Biol Chem
, vol.260
, pp. 1734-1742
-
-
Bonadio, J.1
Holbrook, H.A.2
Gelinas, R.E.3
Jacobs, J.4
Byers, P.H.5
-
6
-
-
0019880195
-
Proteolytic enzymes as probes for the triple-helical conformation of procollagen
-
Bruckner P, Prockop DJ (1981) Proteolytic enzymes as probes for the triple-helical conformation of procollagen. Anal Biochem 110:360-368
-
(1981)
Anal Biochem
, vol.110
, pp. 360-368
-
-
Bruckner, P.1
Prockop, D.J.2
-
8
-
-
0019795388
-
Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide gel electrophoresis
-
Cole WG, Chan D (1981) Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide gel electrophoresis. Biochem J 197:377-383
-
(1981)
Biochem J
, vol.197
, pp. 377-383
-
-
Cole, W.G.1
Chan, D.2
-
9
-
-
13344285604
-
CCM analysis of collagen type I mutations in very severe and lethal OI
-
1993, Oxford, UK
-
Gomez Lira M, Mottes M, Zolezzi F, Cohen-Solal L, Valli M, Pignatti PF (1993) CCM analysis of collagen type I mutations in very severe and lethal OI (abstract). Fifth International Conference on Osteogenesis Imperfecta, 1993, Oxford, UK
-
(1993)
Fifth International Conference on Osteogenesis Imperfecta
-
-
Gomez Lira, M.1
Mottes, M.2
Zolezzi, F.3
Cohen-Solal, L.4
Valli, M.5
Pignatti, P.F.6
-
10
-
-
0025778486
-
Mutations in collagen genes: Causes of rare and some common diseases in humans
-
Kuivaniemi H, Tromp G, Prockop DJ (1991) Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 5: 2052-2060
-
(1991)
FASEB J
, vol.5
, pp. 2052-2060
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
11
-
-
0027259211
-
An RT-PCR-SSCP strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: Application to four patients with osteogenesis imperfecta
-
Mackay K, Byers PH, Dalgleish R (1993a) An RT-PCR-SSCP strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Hum Mol Genet 2: 1155-1160
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1155-1160
-
-
Mackay, K.1
Byers, P.H.2
Dalgleish, R.3
-
12
-
-
0027317241
-
SSCP detection of a Gly565Val substitution in the proα1(I) collagen chain resulting in osteogenesis imperfecta type II
-
Mackay K, Lund AM, Raghunath M, Steinmann B, Dalgleish R (1993b) SSCP detection of a Gly565Val substitution in the proα1(I) collagen chain resulting in osteogenesis imperfecta type II. Hum Genet 91:439-444
-
(1993)
Hum Genet
, vol.91
, pp. 439-444
-
-
Mackay, K.1
Lund, A.M.2
Raghunath, M.3
Steinmann, B.4
Dalgleish, R.5
-
13
-
-
0027466279
-
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, Lewis MB, Wang Q, Chen KJ, Orrison 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. J Biol Chem 268: 2667-2673
-
(1993)
J Biol Chem
, vol.268
, pp. 2667-2673
-
-
Marini, J.C.1
Lewis, M.B.2
Wang, Q.3
Chen, K.J.4
Orrison, B.M.5
-
14
-
-
0027181435
-
Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta
-
Mottes M, Gomez Lira MM, Valli M, Scarano G, Lonardo F, Forlino A, Cetta G, Pignatti PF (1993) Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta. Hum Mutat 2: 196-204
-
(1993)
Hum Mutat
, vol.2
, pp. 196-204
-
-
Mottes, M.1
Gomez Lira, M.M.2
Valli, M.3
Scarano, G.4
Lonardo, F.5
Forlino, A.6
Cetta, G.7
Pignatti, P.F.8
-
15
-
-
0026637437
-
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV
-
Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, De Paepe A (1992) Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet 29: 375-380
-
(1992)
J Med Genet
, vol.29
, pp. 375-380
-
-
Nuytinck, L.1
Narcisi, P.2
Nicholls, A.3
Renard, J.P.4
Pope, F.M.5
De Paepe, A.6
-
16
-
-
0028837036
-
Genetic counselling on brittle grounds: Recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation
-
Raghunath M, Mackay K, Dalgleish R, Steinmann B (1995) Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr 154: 123-129
-
(1995)
Eur J Pediatr
, vol.154
, pp. 123-129
-
-
Raghunath, M.1
Mackay, K.2
Dalgleish, R.3
Steinmann, B.4
-
17
-
-
0028239469
-
A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals
-
Rose NJ, Mackay K, Byers PH, Dalgleish R (1994a) A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. Hum Mutat 3: 391-394
-
(1994)
Hum Mutat
, vol.3
, pp. 391-394
-
-
Rose, N.J.1
Mackay, K.2
Byers, P.H.3
Dalgleish, R.4
-
18
-
-
0028046958
-
Three unrelated individuals with permatally lethal Osteogenesis imperfecta resulting from identical Gly502-Ser substitutions in the α2-chain of type I collagen
-
Rose NJ, Mackay K, De Paepe A, Steinmann B, Punnett HH, Dalgleish R (1994b) Three unrelated individuals with permatally lethal Osteogenesis imperfecta resulting from identical Gly502-Ser substitutions in the α2-chain of type I collagen. Hum Genet 94:497-503
-
(1994)
Hum Genet
, vol.94
, pp. 497-503
-
-
Rose, N.J.1
Mackay, K.2
De Paepe, A.3
Steinmann, B.4
Punnett, H.H.5
Dalgleish, R.6
-
19
-
-
0020348367
-
Stability of proteins
-
Privalov PL (1982) Stability of proteins. Adv Protein Chem 35: 1-104
-
(1982)
Adv Protein Chem
, vol.35
, pp. 1-104
-
-
Privalov, P.L.1
-
20
-
-
0025805194
-
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen
-
Pruchno CJ, Conn DH, Wallis GA, Willing MC, Starman BJ, Zhang X, Byers PH (1991) Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. Hum Genet 87:33-40
-
(1991)
Hum Genet
, vol.87
, pp. 33-40
-
-
Pruchno, C.J.1
Conn, D.H.2
Wallis, G.A.3
Willing, M.C.4
Starman, B.J.5
Zhang, X.6
Byers, P.H.7
-
21
-
-
0026000415
-
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: Evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta
-
Spotila LD, Constantinou CD, Sereda L, Ganguly A, Riggs BL, Prockop DJ (1991) Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci USA 88:5423-5427
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 5423-5427
-
-
Spotila, L.D.1
Constantinou, C.D.2
Sereda, L.3
Ganguly, A.4
Riggs, B.L.5
Prockop, D.J.6
-
22
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus
-
Spotila LD, Sereda L, Prockop DJ (1992) Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51: 1396-1405
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
23
-
-
0026091763
-
Substitutions for glycine α1-637 and glycine α2-694 of type I collagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix
-
Tsuneyoshi T, Westerhausen A, Constantinou CD, Prockop DJ (1991) Substitutions for glycine α1-637 and glycine α2-694 of type I collagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. J Biol Chem 266: 15608-15613
-
(1991)
J Biol Chem
, vol.266
, pp. 15608-15613
-
-
Tsuneyoshi, T.1
Westerhausen, A.2
Constantinou, C.D.3
Prockop, D.J.4
-
24
-
-
0027361307
-
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the α2(I) collagen chain. A regional model relating mutation location with phenotype
-
Wang Q, Orrison BM, Marini JC (1993) Two additional cases of osteogenesis imperfecta with substitutions for glycine in the α2(I) collagen chain. A regional model relating mutation location with phenotype. J Biol Chem 268:25162-25167
-
(1993)
J Biol Chem
, vol.268
, pp. 25162-25167
-
-
Wang, Q.1
Orrison, B.M.2
Marini, J.C.3
-
25
-
-
0025871086
-
The effects of different cysteine for glycine substitutions within α2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix
-
Wenstrup RJ, Shrago-Howe AW, Lever LW. Phillips CL, Byers PH, Cohn DH (1991) The effects of different cysteine for glycine substitutions within α2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. J Biol Chem 266:2590-2594
-
(1991)
J Biol Chem
, vol.266
, pp. 2590-2594
-
-
Wenstrup, R.J.1
Shrago-Howe, A.W.2
Lever, L.W.3
Phillips, C.L.4
Byers, P.H.5
Cohn, D.H.6
-
26
-
-
0025166689
-
Mutations that substitute serine for glycine α1-598 and glycine α1-631 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
-
Westerhausen A, Kishi J, Prockop DJ (1990) Mutations that substitute serine for glycine α1-598 and glycine α1-631 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. J Biol Chem 265: 13995-14012
-
(1990)
J Biol Chem
, vol.265
, pp. 13995-14012
-
-
Westerhausen, A.1
Kishi, J.2
Prockop, D.J.3
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