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 *

169 related articles for article (PubMed ID: 1711048)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
    Zhuang JP; Constantinou CD; Ganguly A; Prockop DJ
    Am J Hum Genet; 1991 Jun; 48(6):1186-91. PubMed ID: 2035536
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.
    Mottes M; Sangalli A; Valli M; Forlino A; Gomez-Lira M; Antoniazzi F; Constantinou-Deltas CD; Cetta G; Pignatti PF
    Hum Genet; 1994 Jun; 93(6):681-7. PubMed ID: 8005592
    [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 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
    Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
    Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
    Hawkins JR; Superti-Furga A; Steinmann B; Dalgleish R
    J Biol Chem; 1991 Nov; 266(33):22370-4. PubMed ID: 1939261
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
    Wang Q; Forlino A; Marini JC
    J Biol Chem; 1996 Nov; 271(45):28617-23. PubMed ID: 8910493
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.
    Chipman SD; Shapiro JR; McKinstry MB; Stover ML; Branson P; Rowe DW
    J Bone Miner Res; 1992 Jul; 7(7):793-805. PubMed ID: 1642148
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
    Baldwin CT; Constantinou CD; Dumars KW; Prockop DJ
    J Biol Chem; 1989 Feb; 264(5):3002-6. PubMed ID: 2914942
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
    Nicholls AC; Oliver J; McCarron S; Winter GB; Pope FM
    Hum Mutat; 1996; 7(3):219-27. PubMed ID: 8829655
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.
    Filie JD; Orrison BM; Wang Q; Lewis MB; Marini JC
    Hum Mutat; 1993; 2(5):380-8. PubMed ID: 8257992
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.
    Bateman JF; Lamande SR; Dahl HH; Chan D; Mascara T; Cole WG
    J Biol Chem; 1989 Jul; 264(19):10960-4. PubMed ID: 2500431
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
    Valli M; Mottes M; Tenni R; Sangalli A; Gomez Lira M; Rossi A; Antoniazzi F; Cetta G; Pignatti PF
    J Biol Chem; 1991 Jan; 266(3):1872-8. PubMed ID: 1988452
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
    Lamande SR; Dahl HH; Cole WG; Bateman JF
    J Biol Chem; 1989 Sep; 264(27):15809-12. PubMed ID: 2777764
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
    Constantinou CD; Nielsen KB; Prockop DJ
    J Clin Invest; 1989 Feb; 83(2):574-84. PubMed ID: 2913053
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.