BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 32022592)

  • 1. Respiratory defects in the
    Dimori M; Heard-Lipsmeyer ME; Byrum SD; Mackintosh SG; Kurten RC; Carroll JL; Morello R
    Am J Physiol Lung Cell Mol Physiol; 2020 Apr; 318(4):L592-L605. PubMed ID: 32022592
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.
    Dimori M; Fett J; Leikin S; Otsuru S; Thostenson JD; Carroll JL; Morello R
    J Physiol; 2023 Jan; 601(2):355-379. PubMed ID: 36285717
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tendon and motor phenotypes in the
    Grol MW; Haelterman NA; Lim J; Munivez EM; Archer M; Hudson DM; Tufa SF; Keene DR; Lei K; Park D; Kuzawa CD; Ambrose CG; Eyre DR; Lee BH
    Elife; 2021 May; 10():. PubMed ID: 34036937
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
    Marini JC; Cabral WA; Barnes AM
    Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
    Zhou B; Gao P; Hu J; Lin X; Sun L; Zhang Q; Jiang Y; Wang O; Xia W; Xing X; Li M
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1803-1813. PubMed ID: 38214665
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.
    Grafe I; Alexander S; Yang T; Lietman C; Homan EP; Munivez E; Chen Y; Jiang MM; Bertin T; Dawson B; Asuncion F; Ke HZ; Ominsky MS; Lee B
    J Bone Miner Res; 2016 May; 31(5):1030-40. PubMed ID: 26716893
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.
    Valli M; Barnes AM; Gallanti A; Cabral WA; Viglio S; Weis MA; Makareeva E; Eyre D; Leikin S; Antoniazzi F; Marini JC; Mottes M
    Clin Genet; 2012 Nov; 82(5):453-9. PubMed ID: 21955071
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dental and craniofacial defects in the Crtap
    Xu H; Lenhart SA; Chu EY; Chavez MB; Wimer HF; Dimori M; Somerman MJ; Morello R; Foster BL; Hatch NE
    Dev Dyn; 2020 Jul; 249(7):884-897. PubMed ID: 32133710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
    Cabral WA; Perdivara I; Weis M; Terajima M; Blissett AR; Chang W; Perosky JE; Makareeva EN; Mertz EL; Leikin S; Tomer KB; Kozloff KM; Eyre DR; Yamauchi M; Marini JC
    PLoS Genet; 2014 Jun; 10(6):e1004465. PubMed ID: 24968150
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.
    Fratzl-Zelman N; Morello R; Lee B; Rauch F; Glorieux FH; Misof BM; Klaushofer K; Roschger P
    Bone; 2010 Mar; 46(3):820-6. PubMed ID: 19895918
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
    Galicka A
    Postepy Hig Med Dosw (Online); 2012 Jun; 66():359-71. PubMed ID: 22706122
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.
    Grafe I; Yang T; Alexander S; Homan EP; Lietman C; Jiang MM; Bertin T; Munivez E; Chen Y; Dawson B; Ishikawa Y; Weis MA; Sampath TK; Ambrose C; Eyre D; Bächinger HP; Lee B
    Nat Med; 2014 Jun; 20(6):670-5. PubMed ID: 24793237
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment.
    Bi X; Grafe I; Ding H; Flores R; Munivez E; Jiang MM; Dawson B; Lee B; Ambrose CG
    J Bone Miner Res; 2017 Feb; 32(2):347-359. PubMed ID: 27649409
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.
    Daponte V; Tonelli F; Masiero C; Syx D; Exbrayat-Héritier C; Biggiogera M; Willaert A; Rossi A; Coucke PJ; Ruggiero F; Forlino A
    Matrix Biol; 2023 Aug; 121():105-126. PubMed ID: 37336269
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype.
    Tonelli F; Cotti S; Leoni L; Besio R; Gioia R; Marchese L; Giorgetti S; Villani S; Gistelinck C; Wagener R; Kobbe B; Fiedler IAK; Larionova D; Busse B; Eyre D; Rossi A; Witten PE; Forlino A
    Matrix Biol; 2020 Aug; 90():40-60. PubMed ID: 32173581
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe osteogenesis imperfecta in cyclophilin B-deficient mice.
    Choi JW; Sutor SL; Lindquist L; Evans GL; Madden BJ; Bergen HR; Hefferan TE; Yaszemski MJ; Bram RJ
    PLoS Genet; 2009 Dec; 5(12):e1000750. PubMed ID: 19997487
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.
    Caudevilla Lafuente P; Izquierdo-Álvarez S; Labarta Aizpún JI
    Med Clin (Barc); 2019 Oct; 153(8):336-337. PubMed ID: 30389107
    [No Abstract]   [Full Text] [Related]  

  • 20. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
    Morello R; Bertin TK; Chen Y; Hicks J; Tonachini L; Monticone M; Castagnola P; Rauch F; Glorieux FH; Vranka J; Bächinger HP; Pace JM; Schwarze U; Byers PH; Weis M; Fernandes RJ; Eyre DR; Yao Z; Boyce BF; Lee B
    Cell; 2006 Oct; 127(2):291-304. PubMed ID: 17055431
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.