316 related articles for article (PubMed ID: 2454224)
1. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
Weil D; Bernard M; Combates N; Wirtz MK; Hollister DW; Steinmann B; Ramirez F
J Biol Chem; 1988 Jun; 263(18):8561-4. PubMed ID: 2454224
[TBL] [Abstract][Full Text] [Related]
2. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
Cole WG; Chiodo AA; Lamande SR; Janeczko R; Ramirez F; Dahl HH; Chan D; Bateman JF
J Biol Chem; 1990 Oct; 265(28):17070-7. PubMed ID: 2145268
[TBL] [Abstract][Full Text] [Related]
3. A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.
Chiodo AA; Hockey A; Cole WG
J Biol Chem; 1992 Mar; 267(9):6361-9. PubMed ID: 1556139
[TBL] [Abstract][Full Text] [Related]
4. Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.
Weil D; D'Alessio M; Ramirez F; Eyre DR
J Biol Chem; 1990 Sep; 265(26):16007-11. PubMed ID: 2394758
[TBL] [Abstract][Full Text] [Related]
5. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.
Vasan NS; Kuivaniemi H; Vogel BE; Minor RR; Wootton JA; Tromp G; Weksberg R; Prockop DJ
Am J Hum Genet; 1991 Feb; 48(2):305-17. PubMed ID: 1990839
[TBL] [Abstract][Full Text] [Related]
6. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
Chiodo AA; Sillence DO; Cole WG; Bateman JF
Biochem J; 1995 Nov; 311 ( Pt 3)(Pt 3):939-43. PubMed ID: 7487954
[TBL] [Abstract][Full Text] [Related]
7. Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.
Ho KK; Kong RY; Kuffner T; Hsu LH; Ma L; Cheah KS
Hum Mutat; 1994; 3(4):358-64. PubMed ID: 8081389
[TBL] [Abstract][Full Text] [Related]
8. Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.
Weil D; D'Alessio M; Ramirez F; Steinmann B; Wirtz MK; Glanville RW; Hollister DW
J Biol Chem; 1989 Oct; 264(28):16804-9. PubMed ID: 2777808
[TBL] [Abstract][Full Text] [Related]
9. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
Lee B; Vitale E; Superti-Furga A; Steinmann B; Ramirez F
J Biol Chem; 1991 Mar; 266(8):5256-9. PubMed ID: 1672129
[TBL] [Abstract][Full Text] [Related]
10. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
Bouma P; Cabral WA; Cole WG; Marini JC
J Biol Chem; 2001 Apr; 276(16):13356-64. PubMed ID: 11278977
[TBL] [Abstract][Full Text] [Related]
11. A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
Lloyd J; Narcisi P; Richards A; Pope FM
J Med Genet; 1993 May; 30(5):376-80. PubMed ID: 8320698
[TBL] [Abstract][Full Text] [Related]
12. Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.
Nicholls AC; Oliver J; Renouf DV; McPheat J; Palan A; Pope FM
Hum Genet; 1991 Jun; 87(2):193-8. PubMed ID: 1712342
[TBL] [Abstract][Full Text] [Related]
13. The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
Carr AJ; Chiodo AA; Hilton JM; Chow CW; Hockey A; Cole WG
J Med Genet; 1994 Apr; 31(4):306-11. PubMed ID: 8071956
[TBL] [Abstract][Full Text] [Related]
14. 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.
Weil D; D'Alessio M; Ramirez F; de Wet W; Cole WG; Chan D; Bateman JF
EMBO J; 1989 Jun; 8(6):1705-10. PubMed ID: 2767050
[TBL] [Abstract][Full Text] [Related]
15. Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.
Wirtz MK; Glanville RW; Steinmann B; Rao VH; Hollister DW
J Biol Chem; 1987 Dec; 262(34):16376-85. PubMed ID: 3680255
[TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH
Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371
[TBL] [Abstract][Full Text] [Related]
17. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U; Hata R; McKusick VA; Shinkai H; Hoyme HE; Pyeritz RE; Byers PH
Am J Hum Genet; 2004 May; 74(5):917-30. PubMed ID: 15077201
[TBL] [Abstract][Full Text] [Related]
18. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
Takahara K; Schwarze U; Imamura Y; Hoffman GG; Toriello H; Smith LT; Byers PH; Greenspan DS
Am J Hum Genet; 2002 Sep; 71(3):451-65. PubMed ID: 12145749
[TBL] [Abstract][Full Text] [Related]
19. Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini.
Saitta B; Stokes DG; Vissing H; Timpl R; Chu ML
J Biol Chem; 1990 Apr; 265(11):6473-80. PubMed ID: 1690728
[TBL] [Abstract][Full Text] [Related]
20. Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
Tromp G; Prockop DJ
Proc Natl Acad Sci U S A; 1988 Jul; 85(14):5254-8. PubMed ID: 2839839
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
