127 related articles for article (PubMed ID: 2002056)
1. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
Vissing H; D'Alessio M; Lee B; Ramirez F; Byers PH; Steinmann B; Superti-Furga A
J Biol Chem; 1991 Mar; 266(8):5244-8. PubMed ID: 2002056
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
Superti-Furga A; Gugler E; Gitzelmann R; Steinmann B
J Biol Chem; 1988 May; 263(13):6226-32. PubMed ID: 2834369
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
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. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
Superti-Furga A; Steinmann B; Ramirez F; Byers PH
Hum Genet; 1989 May; 82(2):104-8. PubMed ID: 2722184
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
Wirtz MK; Keene DR; Hori H; Glanville RW; Steinmann B; Rao VH; Hollister DW
J Biol Chem; 1990 Apr; 265(11):6312-7. PubMed ID: 2318855
[TBL] [Abstract][Full Text] [Related]
15. A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
Eyre DR; Shapiro FD; Aldridge JF
J Biol Chem; 1985 Sep; 260(20):11322-9. PubMed ID: 2993307
[TBL] [Abstract][Full Text] [Related]
16. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
Thakker-Varia S; Anderson DW; Kuivaniemi H; Tromp G; Shin HG; van der Rest M; Glorieux FH; Ala-Kokko L; Stolle CA
Hum Mutat; 1995; 6(2):116-25. PubMed ID: 7581395
[TBL] [Abstract][Full Text] [Related]
17. Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.
Stolle CA; Pyeritz RE; Myers JC; Prockop DJ
J Biol Chem; 1985 Feb; 260(3):1937-44. PubMed ID: 2981879
[TBL] [Abstract][Full Text] [Related]
18. Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
Lee B; D'Alessio M; Vissing H; Ramirez F; Steinmann B; Superti-Furga A
Am J Hum Genet; 1991 Mar; 48(3):511-7. PubMed ID: 1998337
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
Nuytinck L; De Paepe A; Renard JP; Adriaens F; Leroy J
Hum Mutat; 1994; 3(3):268-74. PubMed ID: 8019562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
