These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 2834369)

  • 21. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
    Kontusaari S; Tromp G; Kuivaniemi H; Stolle C; Pope FM; Prockop DJ
    Am J Hum Genet; 1992 Sep; 51(3):497-507. PubMed ID: 1496983
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
    Milewicz DM; Witz AM; Smith AC; Manchester DK; Waldstein G; Byers PH
    Am J Hum Genet; 1993 Jul; 53(1):62-70. PubMed ID: 8317500
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Various characteristics of the structure and synthesis of procollagens produced by cultured skin fibroblasts from patients with Danlos-Ehlers syndrome type I].
    Sokolov BP; Sher BM; Lomova TIu; Kukharenko VI; Blinnikova OE
    Mol Gen Mikrobiol Virusol; 1987 Jan; (1):19-23. PubMed ID: 3561422
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Low production of procollagen III by skin fibroblasts from patients with Ehlers-Danlos syndrome type IV is not caused by decreased levels of procollagen III mRNA.
    Aumailley M; Pöschl E; Martin GR; Yamada Y; Müller PK
    Eur J Clin Invest; 1988 Apr; 18(2):207-12. PubMed ID: 3133227
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.
    Cole WG; Chan D; Chambers GW; Walker ID; Bateman JF
    J Biol Chem; 1986 Apr; 261(12):5496-503. PubMed ID: 3082886
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
    Tromp G; Kuivaniemi H; Shikata H; Prockop DJ
    J Biol Chem; 1989 Jan; 264(3):1349-52. PubMed ID: 2492273
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.
    Gilchrist D; Schwarze U; Shields K; MacLaren L; Bridge PJ; Byers PH
    Am J Med Genet; 1999 Feb; 82(4):305-11. PubMed ID: 10051163
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.
    Smith LT; Schwarze U; Goldstein J; Byers PH
    J Invest Dermatol; 1997 Mar; 108(3):241-7. PubMed ID: 9036918
    [TBL] [Abstract][Full Text] [Related]  

  • 35. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
    Nicholls AC; Oliver JE; McCarron S; Harrison JB; Greenspan DS; Pope FM
    J Med Genet; 1996 Nov; 33(11):940-6. PubMed ID: 8950675
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
    Smith LT; Wertelecki W; Milstone LM; Petty EM; Seashore MR; Braverman IM; Jenkins TG; Byers PH
    Am J Hum Genet; 1992 Aug; 51(2):235-44. PubMed ID: 1642226
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN; Walker LC
    Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.
    Minor RR; Sippola-Thiele M; McKeon J; Berger J; Prockop DJ
    J Biol Chem; 1986 Jul; 261(21):10006-14. PubMed ID: 3733683
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.
    Pyeritz RE; Stolle CA; Parfrey NA; Myers JC
    Am J Med Genet; 1984 Nov; 19(3):607-22. PubMed ID: 6507506
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.