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 *

120 related articles for article (PubMed ID: 3949794)

  • 1. Use of R-loop mapping for the assessment of human collagen mutations.
    de Wett W; Sippola M; Tromp G; Prockop D; Chu ML; Ramirez F
    J Biol Chem; 1986 Mar; 261(8):3857-62. PubMed ID: 3949794
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
    Lamandé SR; Chessler SD; Golub SB; Byers PH; Chan D; Cole WG; Sillence DO; Bateman JF
    J Biol Chem; 1995 Apr; 270(15):8642-9. PubMed ID: 7721766
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
    Pihlajaniemi T; Dickson LA; Pope FM; Korhonen VR; Nicholls A; Prockop DJ; Myers JC
    J Biol Chem; 1984 Nov; 259(21):12941-4. PubMed ID: 6092353
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.
    Dickson LA; Pihlajaniemi T; Deak S; Pope FM; Nicholls A; Prockop DJ; Myers JC
    Proc Natl Acad Sci U S A; 1984 Jul; 81(14):4524-8. PubMed ID: 6087329
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Presence of translatable mRNA for pro alpha 2(I) chains in fibroblasts from a patient with osteogenesis imperfecta whose type I collagen does not contain alpha 2(I) chains.
    Chu ML; Rowe D; Nicholls AC; Pope FM; Prockop DJ
    Coll Relat Res; 1984 Oct; 4(5):389-94. PubMed ID: 6210173
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids.
    Grange DK; Gottesman GS; Lewis MB; Marini JC
    Nucleic Acids Res; 1990 Jul; 18(14):4227-36. PubMed ID: 1696002
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.
    Chu ML; Williams CJ; Pepe G; Hirsch JL; Prockop DJ; Ramirez F
    Nature; 1983 Jul 7-13; 304(5921):78-80. PubMed ID: 6191221
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.