233 related articles for article (PubMed ID: 7741714)
21. 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; 2001 Apr; 72(4):326-35. PubMed ID: 11286507
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
Cohen-Solal L; Zylberberg L; Sangalli A; Gomez Lira M; Mottes M
J Biol Chem; 1994 May; 269(20):14751-8. PubMed ID: 8182080
[TBL] [Abstract][Full Text] [Related]
24. A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
Chan D; Cole WG; Chow CW; Mundlos S; Bateman JF
J Biol Chem; 1995 Jan; 270(4):1747-53. PubMed ID: 7829510
[TBL] [Abstract][Full Text] [Related]
25. 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.
Lightfoot SJ; Atkinson MS; Murphy G; Byers PH; Kadler KE
J Biol Chem; 1994 Dec; 269(48):30352-7. PubMed ID: 7982948
[TBL] [Abstract][Full Text] [Related]
26. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
Körkkö J; Cohn DH; Ala-Kokko L; Krakow D; Prockop DJ
Am J Med Genet; 2000 May; 92(2):95-100. PubMed ID: 10797431
[TBL] [Abstract][Full Text] [Related]
27. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).
Körkkö J; Ritvaniemi P; Haataja L; Kääriäinen H; Kivirikko KI; Prockop DJ; Ala-Kokko L
Am J Hum Genet; 1993 Jul; 53(1):55-61. PubMed ID: 8317498
[TBL] [Abstract][Full Text] [Related]
28. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity.
Bonaventure J; Stanescu R; Stanescu V; Allain JC; Muriel MP; Ginisty D; Maroteaux P
Am J Med Genet; 1992 Dec; 44(6):738-53. PubMed ID: 1481841
[TBL] [Abstract][Full Text] [Related]
29. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA; Makareeva E; Letocha AD; Scribanu N; Fertala A; Steplewski A; Keene DR; Persikov AV; Leikin S; Marini JC
Hum Mutat; 2007 Apr; 28(4):396-405. PubMed ID: 17206620
[TBL] [Abstract][Full Text] [Related]
30. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
Rose NJ; Mackay K; Byers PH; Dalgleish R
Hum Genet; 1995 Feb; 95(2):215-8. PubMed ID: 7860070
[TBL] [Abstract][Full Text] [Related]
31. 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; Hannagan M; Chan D; Cole WG
Biochem J; 1991 Jun; 276 ( Pt 3)(Pt 3):765-70. PubMed ID: 2064612
[TBL] [Abstract][Full Text] [Related]
32. Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen.
Maddox BK; Garofalo S; Smith C; Keene DR; Horton WA
Dev Dyn; 1997 Feb; 208(2):170-7. PubMed ID: 9022054
[TBL] [Abstract][Full Text] [Related]
33. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
Sarafova AP; Choi H; Forlino A; Gajko A; Cabral WA; Tosi L; Reing CM; Marini JC
Hum Mutat; 1998; 11(5):395-403. PubMed ID: 9600458
[TBL] [Abstract][Full Text] [Related]
34. Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
Wang Q; Orrison BM; Marini JC
J Biol Chem; 1993 Nov; 268(33):25162-7. PubMed ID: 7693712
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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.
Wallis GA; Starman BJ; Schwartz MF; Byers PH
J Biol Chem; 1990 Oct; 265(30):18628-33. PubMed ID: 2211725
[TBL] [Abstract][Full Text] [Related]
38. Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.
Chen L; Yang W; Cole WG
J Orthop Res; 1996 Sep; 14(5):712-21. PubMed ID: 8893763
[TBL] [Abstract][Full Text] [Related]
39. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Tysoe C; Saunders J; White L; Hills N; Nicol M; Evans G; Cole T; Chapman S; Pope FM
QJM; 2003 Sep; 96(9):663-71. PubMed ID: 12925722
[TBL] [Abstract][Full Text] [Related]
40. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Tiller GE; Weis MA; Polumbo PA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
Am J Hum Genet; 1995 Feb; 56(2):388-95. PubMed ID: 7847372
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]