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Journal Abstract Search

393 related items for PubMed ID: 26485645

  • 21. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
    Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.
    J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
    [Abstract] [Full Text] [Related]

  • 22. CEP41, a ciliopathy-linked centrosomal protein, regulates microtubule assembly and cell proliferation.
    Prassanawar SS, Sarkar T, Panda D.
    J Cell Sci; 2024 Jul 01; 137(13):. PubMed ID: 38841887
    [Abstract] [Full Text] [Related]

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  • 24. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
    Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ.
    J Biol Chem; 2013 May 10; 288(19):13676-94. PubMed ID: 23532844
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  • 26. Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
    Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y.
    J Clin Invest; 2024 Jul 01; 134(13):. PubMed ID: 38949024
    [Abstract] [Full Text] [Related]

  • 27. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
    Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, UK10K Consortium, University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.
    Nat Cell Biol; 2015 Aug 01; 17(8):1074-1087. PubMed ID: 26167768
    [Abstract] [Full Text] [Related]

  • 28. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
    Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D.
    Hum Mutat; 2020 Dec 01; 41(12):2179-2194. PubMed ID: 33131181
    [Abstract] [Full Text] [Related]

  • 29. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
    Andreu-Cervera A, Catala M, Schneider-Maunoury S.
    Neurobiol Dis; 2021 Mar 01; 150():105236. PubMed ID: 33383187
    [Abstract] [Full Text] [Related]

  • 30. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
    Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.
    Genome Biol; 2015 Dec 29; 16():293. PubMed ID: 26714646
    [Abstract] [Full Text] [Related]

  • 31. Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
    Rao KN, Zhang W, Li L, Anand M, Khanna H.
    Hum Mol Genet; 2016 Oct 15; 25(20):4533-4545. PubMed ID: 28172980
    [Abstract] [Full Text] [Related]

  • 32. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.
    Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW.
    Dis Model Mech; 2011 Jan 15; 4(1):43-56. PubMed ID: 21045211
    [Abstract] [Full Text] [Related]

  • 33. Characterizing the morbid genome of ciliopathies.
    Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.
    Genome Biol; 2016 Nov 28; 17(1):242. PubMed ID: 27894351
    [Abstract] [Full Text] [Related]

  • 34. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
    Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center and Comparative Genomics Unit, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M.
    Hum Mutat; 2016 Nov 28; 37(11):1144-1148. PubMed ID: 27449316
    [Abstract] [Full Text] [Related]

  • 35. Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.
    Murga-Zamalloa CA, Ghosh AK, Patil SB, Reed NA, Chan LS, Davuluri S, Peränen J, Hurd TW, Rachel RA, Khanna H.
    J Biol Chem; 2011 Aug 12; 286(32):28276-86. PubMed ID: 21685394
    [Abstract] [Full Text] [Related]

  • 36. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
    Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW.
    Hum Mol Genet; 2015 Jul 15; 24(14):3994-4005. PubMed ID: 25877302
    [Abstract] [Full Text] [Related]

  • 37. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.
    Am J Hum Genet; 2008 Nov 15; 83(5):559-71. PubMed ID: 18950740
    [Abstract] [Full Text] [Related]

  • 38. Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
    Yamazoe T, Nagai T, Umeda S, Sugaya Y, Mizuno K.
    J Biol Chem; 2020 Oct 23; 295(43):14723-14736. PubMed ID: 32820051
    [Abstract] [Full Text] [Related]

  • 39. Prospective Evaluation of Kidney Disease in Joubert Syndrome.
    Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.
    Clin J Am Soc Nephrol; 2017 Dec 07; 12(12):1962-1973. PubMed ID: 29146704
    [Abstract] [Full Text] [Related]

  • 40. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
    Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS.
    Am J Hum Genet; 2019 Apr 04; 104(4):731-737. PubMed ID: 30905400
    [Abstract] [Full Text] [Related]

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