BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

335 related articles for article (PubMed ID: 1642148)

  • 21. Posttranslational regulation of type I collagen in corneal endothelial cells.
    Kay EP; Gu X; Choi SH; Ninomiya Y
    Invest Ophthalmol Vis Sci; 1996 Jan; 37(1):11-9. PubMed ID: 8550314
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
    de Vries WN; de Wet WJ
    J Biol Chem; 1986 Jul; 261(19):9056-64. PubMed ID: 3722186
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
    Stover ML; Primorac D; Liu SC; McKinstry MB; Rowe DW
    J Clin Invest; 1993 Oct; 92(4):1994-2002. PubMed ID: 8408653
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
    Mundlos S; Chan D; Weng YM; Sillence DO; Cole WG; Bateman JF
    J Biol Chem; 1996 Aug; 271(35):21068-74. PubMed ID: 8702873
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Cell proliferation of human fibroblasts and osteoblasts in osteogenesis imperfecta: influence of age.
    Fedarko NS; D'Avis P; Frazier CR; Burrill MJ; Fergusson V; Tayback M; Sponseller PD; Shapiro JR
    J Bone Miner Res; 1995 Nov; 10(11):1705-12. PubMed ID: 8592947
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
    Willing MC; Cohn DH; Byers PH
    J Clin Invest; 1990 Jan; 85(1):282-90. PubMed ID: 2295701
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III.
    Pocock AE; Francis MJ; Smith R
    Clin Chim Acta; 1995 Dec; 243(1):53-72. PubMed ID: 8747514
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.
    Vogel BE; Minor RR; Freund M; Prockop DJ
    J Biol Chem; 1987 Oct; 262(30):14737-44. PubMed ID: 3667599
    [TBL] [Abstract][Full Text] [Related]  

  • 33. An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
    Superti-Furga A; Raghunath M; Pistone FM; Romano C; Steinmann B
    Connect Tissue Res; 1993; 29(1):31-40. PubMed ID: 8339544
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.
    Byers PH; Shapiro JR; Rowe DW; David KE; Holbrook KA
    J Clin Invest; 1983 Mar; 71(3):689-97. PubMed ID: 6826730
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
    Lund AM; Schwartz M; Raghunath M; Steinmann B; Skovby F
    Eur J Hum Genet; 1996; 4(1):39-45. PubMed ID: 8800927
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Extracellular matrix formation by osteoblasts from patients with osteogenesis imperfecta.
    Fedarko NS; Moerike M; Brenner R; Robey PG; Vetter U
    J Bone Miner Res; 1992 Aug; 7(8):921-30. PubMed ID: 1442206
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
    Cohen-Solal L; Zylberberg L; Sangalli A; Gomez Lira M; Mottes M
    J Biol Chem; 1994 May; 269(20):14751-8. PubMed ID: 8182080
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Procollagen synthesis and extracellular matrix deposition in MG-63 osteosarcoma cells.
    Jukkola A; Risteli L; Melkko J; Risteli J
    J Bone Miner Res; 1993 Jun; 8(6):651-7. PubMed ID: 8328306
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.