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Journal Abstract Search

241 related items for PubMed ID: 24360803

  • 1. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
    Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.
    Am J Hum Genet; 2014 Jan 02; 94(1):73-9. PubMed ID: 24360803
    [Abstract] [Full Text] [Related]

  • 2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
    Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.
    Hum Mol Genet; 2013 Apr 01; 22(7):1358-72. PubMed ID: 23283079
    [Abstract] [Full Text] [Related]

  • 3. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
    Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ.
    Am J Hum Genet; 2014 Jan 02; 94(1):62-72. PubMed ID: 24360808
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
    Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.
    PLoS Genet; 2015 Oct 04; 11(10):e1005575. PubMed ID: 26485645
    [Abstract] [Full Text] [Related]

  • 6. Mutations in CSPP1 lead to classical Joubert syndrome.
    Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.
    Am J Hum Genet; 2014 Jan 02; 94(1):80-6. PubMed ID: 24360807
    [Abstract] [Full Text] [Related]

  • 7. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
    Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF.
    Nat Genet; 2011 Jul 03; 43(8):776-84. PubMed ID: 21725307
    [Abstract] [Full Text] [Related]

  • 8. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 03; 77(3):410-419. PubMed ID: 33039432
    [Abstract] [Full Text] [Related]

  • 9. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
    Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
    Orphanet J Rare Dis; 2014 May 05; 9():72. PubMed ID: 24886560
    [Abstract] [Full Text] [Related]

  • 10. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
    Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE.
    PLoS Genet; 2013 May 05; 9(12):e1003977. PubMed ID: 24339792
    [Abstract] [Full Text] [Related]

  • 11. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
    Zhang D, Aravind L.
    Cell Cycle; 2012 Oct 15; 11(20):3861-75. PubMed ID: 22983010
    [Abstract] [Full Text] [Related]

  • 12. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
    Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.
    Hum Mol Genet; 2013 May 15; 22(10):2024-40. PubMed ID: 23393159
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
    Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.
    Eur J Hum Genet; 2013 Oct 15; 21(10):1074-8. PubMed ID: 23386033
    [Abstract] [Full Text] [Related]

  • 14. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
    Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.
    J Med Genet; 2016 Sep 15; 53(9):608-15. PubMed ID: 27208211
    [Abstract] [Full Text] [Related]

  • 15. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
    Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.
    Mol Cell Probes; 2015 Oct 15; 29(5):299-307. PubMed ID: 26003401
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.
    Fujii T, Liang L, Nakayama K, Katoh Y.
    Hum Mol Genet; 2024 Aug 06; 33(16):1442-1453. PubMed ID: 38751342
    [Abstract] [Full Text] [Related]

  • 18. 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 06; 37(11):1144-1148. PubMed ID: 27449316
    [Abstract] [Full Text] [Related]

  • 19. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
    Andreu-Cervera A, Catala M, Schneider-Maunoury S.
    Neurobiol Dis; 2021 Mar 06; 150():105236. PubMed ID: 33383187
    [Abstract] [Full Text] [Related]

  • 20. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
    Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA.
    Hum Mol Genet; 2017 Dec 01; 26(23):4657-4667. PubMed ID: 28973549
    [Abstract] [Full Text] [Related]

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