217 related articles for article (PubMed ID: 1990839)
1. 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]
2. 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]
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. 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]
5. Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
Zhuang J; Tromp G; Kuivaniemi H; Nakayasu K; Prockop DJ
Hum Genet; 1993 Apr; 91(3):210-6. PubMed ID: 7916744
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.
Wu Y; Kuivaniemi H; Tromp G; Strobel D; Romanic AM; Prockop DJ
Hum Mutat; 1993; 2(1):28-36. PubMed ID: 8477261
[TBL] [Abstract][Full Text] [Related]
9. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
Tromp G; Kuivaniemi H; Stolle C; Pope FM; Prockop DJ
J Biol Chem; 1989 Nov; 264(32):19313-7. PubMed ID: 2808425
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.
Kuivaniemi H; Kontusaari S; Tromp G; Zhao MJ; Sabol C; Prockop DJ
J Biol Chem; 1990 Jul; 265(20):12067-74. PubMed ID: 2365710
[TBL] [Abstract][Full Text] [Related]
12. Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.
Ganguly A; Baldwin CT; Strobel D; Conway D; Horton W; Prockop DJ
J Biol Chem; 1991 Jun; 266(18):12035-40. PubMed ID: 1711048
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.
D'Alessio M; Ramirez F; Blumberg BD; Wirtz MK; Rao VH; Godfrey MD; Hollister DW
Am J Hum Genet; 1991 Aug; 49(2):400-6. PubMed ID: 1867198
[TBL] [Abstract][Full Text] [Related]
14. Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
Schwarze U; Goldstein JA; Byers PH
Am J Hum Genet; 1997 Dec; 61(6):1276-86. PubMed ID: 9399899
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.
Kuivaniemi H; Tromp G; Bergfeld WF; Kay M; Helm TN
J Invest Dermatol; 1995 Sep; 105(3):352-6. PubMed ID: 7665911
[TBL] [Abstract][Full Text] [Related]
20. A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.
Kuivaniemi H; Sabol C; Tromp G; Sippola-Thiele M; Prockop DJ
J Biol Chem; 1988 Aug; 263(23):11407-13. PubMed ID: 3403536
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
