152 related articles for article (PubMed ID: 1374906)
1. Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.
Horton WA; Machado MA; Ellard J; Campbell D; Bartley J; Ramirez F; Vitale E; Lee B
Proc Natl Acad Sci U S A; 1992 May; 89(10):4583-7. PubMed ID: 1374906
[TBL] [Abstract][Full Text] [Related]
2. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
Bonaventure J; Cohen-Solal L; Ritvaniemi P; Van Maldergem L; Kadhom N; Delezoide AL; Maroteaux P; Prockop DJ; Ala-Kokko L
Biochem J; 1995 May; 307 ( Pt 3)(Pt 3):823-30. PubMed ID: 7741714
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
Freisinger P; Ala-Kokko L; LeGuellec D; Franc S; Bouvier R; Ritvaniemi P; Prockop DJ; Bonaventure J
J Biol Chem; 1994 May; 269(18):13663-9. PubMed ID: 8175802
[TBL] [Abstract][Full Text] [Related]
5. Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads.
Bonaventure J; Kadhom N; Cohen-Solal L; Ng KH; Bourguignon J; Lasselin C; Freisinger P
Exp Cell Res; 1994 May; 212(1):97-104. PubMed ID: 8174647
[TBL] [Abstract][Full Text] [Related]
6. An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
Mundlos S; Chan D; McGill J; Bateman JF
Am J Med Genet; 1996 May; 63(1):129-36. PubMed ID: 8723098
[TBL] [Abstract][Full Text] [Related]
7. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Mortier GR; Wilkin DJ; Wilcox WR; Rimoin DL; Lachman RS; Eyre DR; Cohn DH
Hum Mol Genet; 1995 Feb; 4(2):285-8. PubMed ID: 7757081
[TBL] [Abstract][Full Text] [Related]
8. An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
Bogaert R; Tiller GE; Weis MA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
J Biol Chem; 1992 Nov; 267(31):22522-6. PubMed ID: 1429602
[TBL] [Abstract][Full Text] [Related]
9. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.
Chan D; Cole WG
J Biol Chem; 1991 Jul; 266(19):12487-94. PubMed ID: 1905723
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier GR; Weis M; Nuytinck L; King LM; Wilkin DJ; De Paepe A; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
J Med Genet; 2000 Apr; 37(4):263-71. PubMed ID: 10745044
[TBL] [Abstract][Full Text] [Related]
12. Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.
Garofalo S; Vuorio E; Metsaranta M; Rosati R; Toman D; Vaughan J; Lozano G; Mayne R; Ellard J; Horton W
Proc Natl Acad Sci U S A; 1991 Nov; 88(21):9648-52. PubMed ID: 1946380
[TBL] [Abstract][Full Text] [Related]
13. Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.
Holderbaum D; Malemud CJ; Moskowitz RW; Haqqi TM
Biochem Biophys Res Commun; 1993 May; 192(3):1169-74. PubMed ID: 8507190
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
Vissing H; D'Alessio M; Lee B; Ramirez F; Godfrey M; Hollister DW
J Biol Chem; 1989 Nov; 264(31):18265-7. PubMed ID: 2572591
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH
Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
[TBL] [Abstract][Full Text] [Related]
18. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Winterpacht A; Superti-Furga A; Schwarze U; Stöss H; Steinmann B; Spranger J; Zabel B
J Med Genet; 1996 Aug; 33(8):649-54. PubMed ID: 8863156
[TBL] [Abstract][Full Text] [Related]
19. Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
Chan D; Taylor TK; Cole WG
J Biol Chem; 1993 Jul; 268(20):15238-45. PubMed ID: 8325895
[TBL] [Abstract][Full Text] [Related]
20. Characterization of type II and type XI collagen synthesis by an immortalized rat chondrocyte cell line (IRC) having a low level of type II collagen mRNA expression.
Oxford JT; Doege KJ; Horton WE; Morris NP
Exp Cell Res; 1994 Jul; 213(1):28-36. PubMed ID: 8020600
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
