217 related articles for article (PubMed ID: 2036375)
21. Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.
Tenni R; Cetta G; Dyne K; Rossi A; Quacci D; Lenzi L; Castellani AA
Hum Genet; 1988 Jul; 79(3):245-50. PubMed ID: 3402997
[TBL] [Abstract][Full Text] [Related]
22. Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
Steinmann B; Rao VH; Vogel A; Bruckner P; Gitzelmann R; Byers PH
J Biol Chem; 1984 Sep; 259(17):11129-38. PubMed ID: 6469997
[TBL] [Abstract][Full Text] [Related]
23. Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
Bateman JF; Moeller I; Hannagan M; Chan D; Cole WG
Hum Mutat; 1992; 1(1):55-62. PubMed ID: 1284475
[TBL] [Abstract][Full Text] [Related]
24. 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.
Starman BJ; Eyre D; Charbonneau H; Harrylock M; Weis MA; Weiss L; Graham JM; Byers PH
J Clin Invest; 1989 Oct; 84(4):1206-14. PubMed ID: 2794057
[TBL] [Abstract][Full Text] [Related]
25. 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.
Deak SB; Scholz PM; Amenta PS; Constantinou CD; Levi-Minzi SA; Gonzalez-Lavin L; Mackenzie JW
J Biol Chem; 1991 Nov; 266(32):21827-32. PubMed ID: 1718984
[TBL] [Abstract][Full Text] [Related]
26. Collagen metabolism in cultured osteoblasts from osteogenesis imperfecta patients.
Mörike M; Brenner RE; Bushart GB; Teller WM; Vetter U
Biochem J; 1992 Aug; 286 ( Pt 1)(Pt 1):73-7. PubMed ID: 1520286
[TBL] [Abstract][Full Text] [Related]
27. An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta.
Forlino A; Keene DR; Schmidt K; Marini JC
Matrix Biol; 1998 Dec; 17(8-9):575-84. PubMed ID: 9923651
[TBL] [Abstract][Full Text] [Related]
28. A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.
Vogel BE; Doelz R; Kadler KE; Hojima Y; Engel J; Prockop DJ
J Biol Chem; 1988 Dec; 263(35):19249-55. PubMed ID: 3198624
[TBL] [Abstract][Full Text] [Related]
29. Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
Cohn DH; Apone S; Eyre DR; Starman BJ; Andreassen P; Charbonneau H; Nicholls AC; Pope FM; Byers PH
J Biol Chem; 1988 Oct; 263(29):14605-7. PubMed ID: 3170557
[TBL] [Abstract][Full Text] [Related]
30. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
Bonadio J; Holbrook KA; Gelinas RE; Jacob J; Byers PH
J Biol Chem; 1985 Feb; 260(3):1734-42. PubMed ID: 2981871
[TBL] [Abstract][Full Text] [Related]
31. The effects of different cysteine for glycine substitutions within alpha 2(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
J Biol Chem; 1991 Feb; 266(4):2590-4. PubMed ID: 1990009
[TBL] [Abstract][Full Text] [Related]
32. The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.
Deak SB; Nicholls A; Pope FM; Prockop DJ
J Biol Chem; 1983 Dec; 258(24):15192-7. PubMed ID: 6418743
[TBL] [Abstract][Full Text] [Related]
33. 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; Stover ML; Burn VE; McKinstry MB; Burshell AL; Chipman SD; Rowe DW
J Clin Invest; 1992 Feb; 89(2):567-73. PubMed ID: 1737847
[TBL] [Abstract][Full Text] [Related]
34. Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III).
Bonaventure J; Cohen-Solal L; Lasselin C; Allain JC; Maroteaux P
Biochim Biophys Acta; 1986 Oct; 889(1):23-34. PubMed ID: 3768427
[TBL] [Abstract][Full Text] [Related]
35. Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.
Cabral WA; Mertts MV; Makareeva E; Colige A; Tekin M; Pandya A; Leikin S; Marini JC
J Biol Chem; 2003 Mar; 278(12):10006-12. PubMed ID: 12538651
[TBL] [Abstract][Full Text] [Related]
36. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
Baldwin CT; Constantinou CD; Dumars KW; Prockop DJ
J Biol Chem; 1989 Feb; 264(5):3002-6. PubMed ID: 2914942
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
Constantinou CD; Pack M; Young SB; Prockop DJ
Am J Hum Genet; 1990 Oct; 47(4):670-9. PubMed ID: 2220807
[TBL] [Abstract][Full Text] [Related]
38. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
Wenstrup RJ; Hunter AG; Byers PH
Hum Genet; 1986 Sep; 74(1):47-53. PubMed ID: 3759085
[TBL] [Abstract][Full Text] [Related]
39. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta.
Bateman JF; Mascara T; Chan D; Cole WG
Biochem J; 1984 Jan; 217(1):103-15. PubMed ID: 6421277
[TBL] [Abstract][Full Text] [Related]
40. Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.
Steinmann B; Nicholls A; Pope FM
J Biol Chem; 1986 Jul; 261(19):8958-64. PubMed ID: 3722184
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
