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 *

171 related articles for article (PubMed ID: 2339695)

  • 1. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
    Wenstrup RJ; Willing MC; Starman BJ; Byers PH
    Am J Hum Genet; 1990 May; 46(5):975-82. PubMed ID: 2339695
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.
    Superti-Furga A; Pistone F; Romano C; Steinmann B
    J Med Genet; 1989 Jun; 26(6):358-62. PubMed ID: 2567784
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
    Barsh GS; David KE; Byers PH
    Proc Natl Acad Sci U S A; 1982 Jun; 79(12):3838-42. PubMed ID: 6954526
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen.
    Wenstrup RJ; Hunter AG; Byers PH
    Hum Genet; 1986 Sep; 74(1):47-53. PubMed ID: 3759085
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular heterogeneity in osteogenesis imperfecta type I.
    Willing MC; Pruchno CJ; Byers PH
    Am J Med Genet; 1993 Jan; 45(2):223-7. PubMed ID: 8456806
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Collagen metabolism in cultured osteoblasts from osteogenesis imperfecta patients.
    Mörike M; Brenner RE; Bushart GB; Teller WM; Vetter U
    Biochem J; 1992 Aug; 286 ( Pt 1)(Pt 1):73-7. PubMed ID: 1520286
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.
    Tenni R; Cetta G; Dyne K; Rossi A; Quacci D; Lenzi L; Castellani AA
    Hum Genet; 1988 Jul; 79(3):245-50. PubMed ID: 3402997
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
    Pack M; Constantinou CD; Kalia K; Nielsen KB; Prockop DJ
    J Biol Chem; 1989 Nov; 264(33):19694-9. PubMed ID: 2511192
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
    Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH
    Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen.
    Deak SB; Nicholls A; Pope FM; Prockop DJ
    J Biol Chem; 1983 Dec; 258(24):15192-7. PubMed ID: 6418743
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
    Constantinou CD; Pack M; Young SB; Prockop DJ
    Am J Hum Genet; 1990 Oct; 47(4):670-9. PubMed ID: 2220807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
    Bonadio J; Holbrook KA; Gelinas RE; Jacob J; Byers PH
    J Biol Chem; 1985 Feb; 260(3):1734-42. PubMed ID: 2981871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta.
    Valli M; Rossi A; Forlino A; Tenni R; Cetta G
    Matrix; 1993 Jul; 13(4):275-80. PubMed ID: 8412984
    [TBL] [Abstract][Full Text] [Related]  

  • 16. BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta.
    Chessler SD; Byers PH
    J Biol Chem; 1993 Aug; 268(24):18226-33. PubMed ID: 8349698
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
    Barsh GS; Byers PH
    Proc Natl Acad Sci U S A; 1981 Aug; 78(8):5142-6. PubMed ID: 6946461
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
    Cundy T; Dray M; Delahunt J; Hald JD; Langdahl B; Li C; Szybowska M; Mohammed S; Duncan EL; McInerney-Leo AM; Wheeler PG; Roschger P; Klaushofer K; Rai J; Weis M; Eyre D; Schwarze U; Byers PH
    J Bone Miner Res; 2018 Jul; 33(7):1260-1271. PubMed ID: 29669177
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
    Wenstrup RJ; Tsipouras P; Byers PH
    J Clin Invest; 1986 Dec; 78(6):1449-55. PubMed ID: 3782466
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta.
    Cole WG
    Clin Orthop Relat Res; 1997 Oct; (343):235-48. PubMed ID: 9345229
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.