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Journal Abstract Search

351 related items for PubMed ID: 32386558

  • 1. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
    Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B.
    Am J Hum Genet; 2020 Jun 04; 106(6):893-904. PubMed ID: 32386558
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  • 2. Acute Inhibition of Heterotrimeric Kinesin-2 Function Reveals Mechanisms of Intraflagellar Transport in Mammalian Cilia.
    Engelke MF, Waas B, Kearns SE, Suber A, Boss A, Allen BL, Verhey KJ.
    Curr Biol; 2019 Apr 01; 29(7):1137-1148.e4. PubMed ID: 30905605
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  • 3. Kinesin-2 family in vertebrate ciliogenesis.
    Zhao C, Omori Y, Brodowska K, Kovach P, Malicki J.
    Proc Natl Acad Sci U S A; 2012 Feb 14; 109(7):2388-93. PubMed ID: 22308397
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  • 4. The cytoplasmic tail of rhodopsin triggers rapid rod degeneration in kinesin-2 mutants.
    Feng D, Chen Z, Yang K, Miao S, Xu B, Kang Y, Xie H, Zhao C.
    J Biol Chem; 2017 Oct 20; 292(42):17375-17386. PubMed ID: 28855254
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  • 5. Unexpected Roles for Ciliary Kinesins and Intraflagellar Transport Proteins.
    Pooranachandran N, Malicki JJ.
    Genetics; 2016 Jun 20; 203(2):771-85. PubMed ID: 27038111
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  • 6. Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.
    Adams JM, Sawe C, Rogers S, Reid J, Dasari R, Engelke MF.
    Front Mol Biosci; 2024 Jun 20; 11():1327963. PubMed ID: 38665936
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  • 7. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.
    Am J Hum Genet; 2017 Jul 06; 101(1):23-36. PubMed ID: 28625504
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  • 9. Photoreceptor localization of the KIF3A and KIF3B subunits of the heterotrimeric microtubule motor kinesin II in vertebrate retina.
    Whitehead JL, Wang SY, Bost-Usinger L, Hoang E, Frazer KA, Burnside B.
    Exp Eye Res; 1999 Nov 06; 69(5):491-503. PubMed ID: 10548469
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  • 10. Live-cell imaging evidence for the ciliary transport of rod photoreceptor opsin by heterotrimeric kinesin-2.
    Trivedi D, Colin E, Louie CM, Williams DS.
    J Neurosci; 2012 Aug 01; 32(31):10587-93. PubMed ID: 22855808
    [Abstract] [Full Text] [Related]

  • 11. Kinesin-2 family motors in the unusual photoreceptor cilium.
    Malicki J, Besharse JC.
    Vision Res; 2012 Dec 15; 75():33-6. PubMed ID: 23123805
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  • 12. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
    Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.
    Hum Mol Genet; 2015 Jan 01; 24(1):230-42. PubMed ID: 25168386
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  • 13. Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
    de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S.
    J Med Genet; 2018 Oct 01; 55(10):705-712. PubMed ID: 30120214
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  • 14. Kinesin family 17 (osmotic avoidance abnormal-3) is dispensable for photoreceptor morphology and function.
    Jiang L, Tam BM, Ying G, Wu S, Hauswirth WW, Frederick JM, Moritz OL, Baehr W.
    FASEB J; 2015 Dec 01; 29(12):4866-80. PubMed ID: 26229057
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  • 19. IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.
    Dharmat R, Liu W, Ge Z, Sun Z, Yang L, Li Y, Wang K, Thomas K, Sui R, Chen R.
    Invest Ophthalmol Vis Sci; 2017 May 01; 58(5):2483-2490. PubMed ID: 28460050
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