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Journal Abstract Search

152 related items for PubMed ID: 34085516

  • 1. High-Throughput miRFluR Platform Identifies miRNA Regulating B3GLCT That Predict Peters' Plus Syndrome Phenotype, Supporting the miRNA Proxy Hypothesis.
    Thu CT, Chung JY, Dhawan D, Vaiana CA, Mahal LK.
    ACS Chem Biol; 2021 Oct 15; 16(10):1900-1907. PubMed ID: 34085516
    [Abstract] [Full Text] [Related]

  • 2. 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 15; 297(1):100843. PubMed ID: 34058199
    [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 02; 25(3):286-295. PubMed ID: 25544610
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  • 4. 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 15; 28(24):4053-4066. PubMed ID: 31600785
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  • 5. Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.
    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 28; 20(23):. PubMed ID: 31795264
    [Abstract] [Full Text] [Related]

  • 6. Ocular Phenotype of Peters-Plus Syndrome.
    Shah PR, Chauhan B, Chu CT, Kofler J, Nischal KK.
    Cornea; 2022 Feb 01; 41(2):219-223. PubMed ID: 34629439
    [Abstract] [Full Text] [Related]

  • 7. 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 23; 20(1):118. PubMed ID: 32204707
    [Abstract] [Full Text] [Related]

  • 8. 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 Mar 23; 12(9):e0184903. PubMed ID: 28926587
    [Abstract] [Full Text] [Related]

  • 9. Peters Plus syndrome: a recognizable clinical entity.
    Demir GÜ, Lafcı NG, Doğan ÖA, Şimşek-Kiper PÖ, Utine GE.
    Turk J Pediatr; 2020 Mar 23; 62(1):136-140. PubMed ID: 32253880
    [Abstract] [Full Text] [Related]

  • 10. First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
    Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F.
    Gene; 2013 Dec 10; 532(1):13-7. PubMed ID: 23954224
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  • 14. Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
    Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P.
    Ophthalmic Genet; 2011 Nov 10; 32(4):256-8. PubMed ID: 21671750
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  • 16. 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 Nov 10; 41(1):2-10. PubMed ID: 18720094
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  • 17. Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
    Shimizu R, Saito R, Hoshino K, Ogawa K, Negishi T, Nishimura J, Mitsui N, Osawa M, Ohashi H.
    Congenit Anom (Kyoto); 2010 Sep 10; 50(3):197-9. PubMed ID: 20584037
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  • 18. Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
    Siala O, Belguith N, Kammoun H, Kammoun B, Hmida N, Chabchoub I, Hchicha M, Fakhfakh F.
    Gene; 2012 Oct 01; 507(1):68-73. PubMed ID: 22759511
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  • 20. 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 09; 31(8):988-1004. PubMed ID: 33909046
    [Abstract] [Full Text] [Related]

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