BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 32112888)

  • 21. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
    Baldridge D; Schwarze U; Morello R; Lennington J; Bertin TK; Pace JM; Pepin MG; Weis M; Eyre DR; Walsh J; Lambert D; Green A; Robinson H; Michelson M; Houge G; Lindman C; Martin J; Ward J; Lemyre E; Mitchell JJ; Krakow D; Rimoin DL; Cohn DH; Byers PH; Lee B
    Hum Mutat; 2008 Dec; 29(12):1435-42. PubMed ID: 18566967
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Generalized connective tissue disease in Crtap-/- mouse.
    Baldridge D; Lennington J; Weis M; Homan EP; Jiang MM; Munivez E; Keene DR; Hogue WR; Pyott S; Byers PH; Krakow D; Cohn DH; Eyre DR; Lee B; Morello R
    PLoS One; 2010 May; 5(5):e10560. PubMed ID: 20485499
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
    Fratzl-Zelman N; Barnes AM; Weis M; Carter E; Hefferan TE; Perino G; Chang W; Smith PA; Roschger P; Klaushofer K; Glorieux FH; Eyre DR; Raggio C; Rauch F; Marini JC
    J Clin Endocrinol Metab; 2016 Sep; 101(9):3516-25. PubMed ID: 27383115
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones.
    Vranka JA; Pokidysheva E; Hayashi L; Zientek K; Mizuno K; Ishikawa Y; Maddox K; Tufa S; Keene DR; Klein R; Bächinger HP
    J Biol Chem; 2010 May; 285(22):17253-62. PubMed ID: 20363744
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
    Marini JC; Reich A; Smith SM
    Curr Opin Pediatr; 2014 Aug; 26(4):500-7. PubMed ID: 25007323
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
    Barnes AM; Chang W; Morello R; Cabral WA; Weis M; Eyre DR; Leikin S; Makareeva E; Kuznetsova N; Uveges TE; Ashok A; Flor AW; Mulvihill JJ; Wilson PL; Sundaram UT; Lee B; Marini JC
    N Engl J Med; 2006 Dec; 355(26):2757-64. PubMed ID: 17192541
    [TBL] [Abstract][Full Text] [Related]  

  • 27. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
    Lindert U; Cabral WA; Ausavarat S; Tongkobpetch S; Ludin K; Barnes AM; Yeetong P; Weis M; Krabichler B; Srichomthong C; Makareeva EN; Janecke AR; Leikin S; Röthlisberger B; Rohrbach M; Kennerknecht I; Eyre DR; Suphapeetiporn K; Giunta C; Marini JC; Shotelersuk V
    Nat Commun; 2016 Jul; 7():11920. PubMed ID: 27380894
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Posttranslational modifications in type I collagen from different tissues extracted from wild type and prolyl 3-hydroxylase 1 null mice.
    Pokidysheva E; Zientek KD; Ishikawa Y; Mizuno K; Vranka JA; Montgomery NT; Keene DR; Kawaguchi T; Okuyama K; Bächinger HP
    J Biol Chem; 2013 Aug; 288(34):24742-52. PubMed ID: 23861401
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.
    Amor IM; Rauch F; Gruenwald K; Weis M; Eyre DR; Roughley P; Glorieux FH; Morello R
    Am J Med Genet A; 2011 Nov; 155A(11):2865-70. PubMed ID: 21964860
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Insights on the evolution of prolyl 3-hydroxylation sites from comparative analysis of chicken and Xenopus fibrillar collagens.
    Hudson DM; Weis M; Eyre DR
    PLoS One; 2011 May; 6(5):e19336. PubMed ID: 21559283
    [TBL] [Abstract][Full Text] [Related]  

  • 31. New perspectives on osteogenesis imperfecta.
    Forlino A; Cabral WA; Barnes AM; Marini JC
    Nat Rev Endocrinol; 2011 Jun; 7(9):540-57. PubMed ID: 21670757
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.
    Besio R; Garibaldi N; Leoni L; Cipolla L; Sabbioneda S; Biggiogera M; Mottes M; Aglan M; Otaify GA; Temtamy SA; Rossi A; Forlino A
    Dis Model Mech; 2019 Jun; 12(6):. PubMed ID: 31171565
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.
    Gagliardi A; Besio R; Carnemolla C; Landi C; Armini A; Aglan M; Otaify G; Temtamy SA; Forlino A; Bini L; Bianchi L
    J Proteomics; 2017 Sep; 167():46-59. PubMed ID: 28802583
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.
    Eyre DR; Weis MA
    Calcif Tissue Int; 2013 Oct; 93(4):338-47. PubMed ID: 23508630
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Fracture Healing in Collagen-Related Preclinical Models of Osteogenesis Imperfecta.
    Zieba J; Munivez E; Castellon A; Jiang MM; Dawson B; Ambrose CG; Lee B
    J Bone Miner Res; 2020 Jun; 35(6):1132-1148. PubMed ID: 32053224
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.
    Tiainen P; Pasanen A; Sormunen R; Myllyharju J
    J Biol Chem; 2008 Jul; 283(28):19432-9. PubMed ID: 18487197
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.
    Gioia R; Tonelli F; Ceppi I; Biggiogera M; Leikin S; Fisher S; Tenedini E; Yorgan TA; Schinke T; Tian K; Schwartz JM; Forte F; Wagener R; Villani S; Rossi A; Forlino A
    Hum Mol Genet; 2017 Aug; 26(15):2897-2911. PubMed ID: 28475764
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
    Cabral WA; Makareeva E; Colige A; Letocha AD; Ty JM; Yeowell HN; Pals G; Leikin S; Marini JC
    J Biol Chem; 2005 May; 280(19):19259-69. PubMed ID: 15728585
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in
    Mikhail KA; VanSickle E; Rossetti LZ
    Cold Spring Harb Mol Case Stud; 2023 Feb; 9(1):. PubMed ID: 36963805
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.
    Kuznetsova NV; Forlino A; Cabral WA; Marini JC; Leikin S
    Matrix Biol; 2004 May; 23(2):101-12. PubMed ID: 15246109
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.