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 *

155 related articles for article (PubMed ID: 27687499)

  • 1. Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.
    Dubail J; Vasudevan D; Wang LW; Earp SE; Jenkins MW; Haltiwanger RS; Apte SS
    Sci Rep; 2016 Sep; 6():33974. PubMed ID: 27687499
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
    Holdener BC; Percival CJ; Grady RC; Cameron DC; Berardinelli SJ; Zhang A; Neupane S; Takeuchi M; Jimenez-Vega JC; Uddin SMZ; Komatsu DE; Honkanen R; Dubail J; Apte SS; Sato T; Narimatsu H; McClain SA; Haltiwanger RS
    Hum Mol Genet; 2019 Dec; 28(24):4053-4066. PubMed ID: 31600785
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
    Vasudevan D; Takeuchi H; Johar SS; Majerus E; Haltiwanger RS
    Curr Biol; 2015 Feb; 25(3):286-295. PubMed ID: 25544610
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analyzing the Effects of O-Fucosylation on Secretion of ADAMTS Proteins Using Cell-Based Assays.
    Berardinelli SJ; Haltiwanger RS
    Methods Mol Biol; 2020; 2043():25-43. PubMed ID: 31463900
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Zhang A; Berardinelli SJ; Leonhard-Melief C; Vasudevan D; Liu TW; Taibi A; Giannone S; Apte SS; Holdener BC; Haltiwanger RS
    J Biol Chem; 2020 Nov; 295(46):15742-15753. PubMed ID: 32913123
    [No Abstract]   [Full Text] [Related]  

  • 6. Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.
    Neupane S; Goto J; Berardinelli SJ; Ito A; Haltiwanger RS; Holdener BC
    Glycobiology; 2021 Sep; 31(8):988-1004. PubMed ID: 33909046
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.
    Weh E; Takeuchi H; Muheisen S; Haltiwanger RS; Semina EV
    PLoS One; 2017; 12(9):e0184903. PubMed ID: 28926587
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
    Zhang A; Venkat A; Taujale R; Mull JL; Ito A; Kannan N; Haltiwanger RS
    J Biol Chem; 2021 Jul; 297(1):100843. PubMed ID: 34058199
    [TBL] [Abstract][Full Text] [Related]  

  • 9. O-fucosylation of thrombospondin type I repeats is dispensable for trafficking thrombospondin 1 to platelet secretory granules.
    Berardinelli SJ; Sillato AR; Grady RC; Neupane S; Ito A; Haltiwanger RS; Holdener BC
    Glycobiology; 2023 May; 33(4):301-310. PubMed ID: 36721988
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion.
    Benz BA; Nandadasa S; Takeuchi M; Grady RC; Takeuchi H; LoPilato RK; Kakuda S; Somerville RPT; Apte SS; Haltiwanger RS; Holdener BC
    Dev Biol; 2016 Aug; 416(1):111-122. PubMed ID: 27297885
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.
    Heinonen TY; Maki M
    Ann Med; 2009; 41(1):2-10. PubMed ID: 18720094
    [TBL] [Abstract][Full Text] [Related]  

  • 12. O-fucosylation stabilizes the TSR3 motif in thrombospondin-1 by interacting with nearby amino acids and protecting a disulfide bond.
    Berardinelli SJ; Eletsky A; Valero-González J; Ito A; Manjunath R; Hurtado-Guerrero R; Prestegard JH; Woods RJ; Haltiwanger RS
    J Biol Chem; 2022 Jun; 298(6):102047. PubMed ID: 35597280
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
    Wang YE; Ramirez DA; Chang TC; Berrocal A
    BMC Ophthalmol; 2020 Mar; 20(1):118. PubMed ID: 32204707
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Contribution of a Novel
    Totoń-Żurańska J; Kapusta P; Rybak-Krzyszkowska M; Lorenc K; Machlowska J; Skalniak A; Filipek E; Pawlik D; Wołkow PP
    Int J Mol Sci; 2019 Nov; 20(23):. PubMed ID: 31795264
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ocular Phenotype of Peters-Plus Syndrome.
    Shah PR; Chauhan B; Chu CT; Kofler J; Nischal KK
    Cornea; 2022 Feb; 41(2):219-223. PubMed ID: 34629439
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
    Hess D; Keusch JJ; Oberstein SA; Hennekam RC; Hofsteenge J
    J Biol Chem; 2008 Mar; 283(12):7354-60. PubMed ID: 18199743
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Peters Plus syndrome: a recognizable clinical entity.
    Demir GÜ; Lafcı NG; Doğan ÖA; Şimşek-Kiper PÖ; Utine GE
    Turk J Pediatr; 2020; 62(1):136-140. PubMed ID: 32253880
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
    Weh E; Reis LM; Tyler RC; Bick D; Rhead WJ; Wallace S; McGregor TL; Dills SK; Chao MC; Murray JC; Semina EV
    Clin Genet; 2014 Aug; 86(2):142-8. PubMed ID: 23889335
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal sonographic findings in Peters-plus syndrome.
    Boog G; Le Vaillant C; Joubert M
    Ultrasound Obstet Gynecol; 2005 Jun; 25(6):602-6. PubMed ID: 15912477
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.