BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 27706701)

  • 1. Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
    Barbirato C; Trancozo M; Rebouças MR; Sipolatti V; Nunes VR; Paula F
    Genet Mol Res; 2016 Sep; 15(3):. PubMed ID: 27706701
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
    Zhang H; Xu Y; Yue H; Wang C; Gu J; He J; Fu W; Hu W; Zhang Z
    Int J Mol Med; 2018 Jun; 41(6):3662-3670. PubMed ID: 29512769
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
    Wang JY; Liu Y; Song LJ; Lv F; Xu XJ; San A; Wang J; Yang HM; Yang ZY; Jiang Y; Wang O; Xia WB; Xing XP; Li M
    Calcif Tissue Int; 2017 Jan; 100(1):55-66. PubMed ID: 27796462
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
    Caparrós-Martin JA; Valencia M; Pulido V; Martínez-Glez V; Rueda-Arenas I; Amr K; Farra C; Lapunzina P; Ruiz-Perez VL; Temtamy S; Aglan M
    Am J Med Genet A; 2013 Jun; 161A(6):1354-69. PubMed ID: 23613367
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
    Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
    Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
    [TBL] [Abstract][Full Text] [Related]  

  • 6. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
    Duran I; Nevarez L; Sarukhanov A; Wu S; Lee K; Krejci P; Weis M; Eyre D; Krakow D; Cohn DH
    Hum Mol Genet; 2015 Apr; 24(7):1918-28. PubMed ID: 25510505
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
    Christiansen HE; Schwarze U; Pyott SM; AlSwaid A; Al Balwi M; Alrasheed S; Pepin MG; Weis MA; Eyre DR; Byers PH
    Am J Hum Genet; 2010 Mar; 86(3):389-98. PubMed ID: 20188343
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
    Lindert U; Weis MA; Rai J; Seeliger F; Hausser I; Leeb T; Eyre D; Rohrbach M; Giunta C
    J Biol Chem; 2015 Jul; 290(29):17679-17689. PubMed ID: 26004778
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
    Becker J; Semler O; Gilissen C; Li Y; Bolz HJ; Giunta C; Bergmann C; Rohrbach M; Koerber F; Zimmermann K; de Vries P; Wirth B; Schoenau E; Wollnik B; Veltman JA; Hoischen A; Netzer C
    Am J Hum Genet; 2011 Mar; 88(3):362-71. PubMed ID: 21353196
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
    Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
    Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
    Hasegawa K
    Clin Calcium; 2010 Aug; 20(8):1190-5. PubMed ID: 20675929
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
    Fernandes AM; Rocha-Braz MGM; França MM; Lerario AM; Simões VRF; Zanardo EA; Kulikowski LD; Martin RM; Mendonca BB; Ferraz-de-Souza B
    Osteoporos Int; 2020 Jul; 31(7):1341-1352. PubMed ID: 32123938
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.
    Venturi G; Gandini A; Monti E; Dalle Carbonare L; Corradi M; Vincenzi M; Valenti MT; Valli M; Pelilli E; Boner A; Mottes M; Antoniazzi F
    J Bone Miner Res; 2012 Mar; 27(3):723-8. PubMed ID: 22113968
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
    Song Y; Zhao D; Xu X; Lv F; Li L; Jiang Y; Wang O; Xia W; Xing X; Li M
    Osteoporos Int; 2018 Jun; 29(6):1389-1396. PubMed ID: 29520608
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations.
    Wang JY; Li LJ; Zhang Q; Liu Y; Lv F; Xu XJ; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
    Clin Chim Acta; 2018 Mar; 478():216-221. PubMed ID: 29104038
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
    Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
    J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].
    Luo YF; Dilihuma J; Sun GH; Reyilanmu B; Liang L; Du XY; Mireguli M
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):135-139. PubMed ID: 32102151
    [No Abstract]   [Full Text] [Related]  

  • 19. Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.
    Rajagopal A; Homan EP; Joeng KS; Suzuki M; Bertin T; Cela R; Munivez E; Dawson B; Jiang MM; Gannon F; Crawford S; Lee BH
    Mol Genet Metab; 2016 Mar; 117(3):378-82. PubMed ID: 26693895
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
    Homan EP; Rauch F; Grafe I; Lietman C; Doll JA; Dawson B; Bertin T; Napierala D; Morello R; Gibbs R; White L; Miki R; Cohn DH; Crawford S; Travers R; Glorieux FH; Lee B
    J Bone Miner Res; 2011 Dec; 26(12):2798-803. PubMed ID: 21826736
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.