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 *

286 related articles for article (PubMed ID: 30217954)

  • 21. 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; 12(12):1962-1973. PubMed ID: 29146704
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
    Malicdan MC; Vilboux T; Stephen J; Maglic D; Mian L; Konzman D; Guo J; Yildirimli D; Bryant J; Fischer R; Zein WM; Snow J; Vemulapalli M; Mullikin JC; Toro C; Solomon BD; Niederhuber JE; ; Gahl WA; Gunay-Aygun M
    J Med Genet; 2015 Dec; 52(12):830-9. PubMed ID: 26386044
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
    Jayarajan RO; Chakraborty S; Raghu KG; Purushothaman J; Veleri S
    Exp Brain Res; 2024 Mar; 242(3):619-637. PubMed ID: 38231387
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
    Lin Z; Shen Y; Li Y; Lu C; Zhu Y; He R; Cao Z; Yin Z; Gao H; Guo B; Ma X; Cao M; Luo M
    J Cell Physiol; 2024 Apr; 239(4):e31189. PubMed ID: 38219074
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutation of POC1B in a severe syndromic retinal ciliopathy.
    Beck BB; Phillips JB; Bartram MP; Wegner J; Thoenes M; Pannes A; Sampson J; Heller R; Göbel H; Koerber F; Neugebauer A; Hedergott A; Nürnberg G; Nürnberg P; Thiele H; Altmüller J; Toliat MR; Staubach S; Boycott KM; Valente EM; Janecke AR; Eisenberger T; Bergmann C; Tebbe L; Wang Y; Wu Y; Fry AM; Westerfield M; Wolfrum U; Bolz HJ
    Hum Mutat; 2014 Oct; 35(10):1153-62. PubMed ID: 25044745
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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; 9(12):e1003977. PubMed ID: 24339792
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
    Lange KI; Tsiropoulou S; Kucharska K; Blacque OE
    Dis Model Mech; 2021 Jan; 14(1):. PubMed ID: 33234550
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
    Coene KL; Mans DA; Boldt K; Gloeckner CJ; van Reeuwijk J; Bolat E; Roosing S; Letteboer SJ; Peters TA; Cremers FP; Ueffing M; Roepman R
    Hum Mol Genet; 2011 Sep; 20(18):3592-605. PubMed ID: 21685204
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
    Srour M; Hamdan FF; McKnight D; Davis E; Mandel H; Schwartzentruber J; Martin B; Patry L; Nassif C; Dionne-Laporte A; Ospina LH; Lemyre E; Massicotte C; Laframboise R; Maranda B; Labuda D; Décarie JC; Rypens F; Goldsher D; Fallet-Bianco C; Soucy JF; Laberge AM; Maftei C; ; Boycott K; Brais B; Boucher RM; Rouleau GA; Katsanis N; Majewski J; Elpeleg O; Kukolich MK; Shalev S; Michaud JL
    Am J Hum Genet; 2015 Nov; 97(5):744-53. PubMed ID: 26477546
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation.
    Lu H; Toh MT; Narasimhan V; Thamilselvam SK; Choksi SP; Roy S
    Dev Biol; 2015 Jan; 397(2):225-36. PubMed ID: 25448689
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 288(19):13676-94. PubMed ID: 23532844
    [TBL] [Abstract][Full Text] [Related]  

  • 32. DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
    Slaats GG; Saldivar JC; Bacal J; Zeman MK; Kile AC; Hynes AM; Srivastava S; Nazmutdinova J; den Ouden K; Zagers MS; Foletto V; Verhaar MC; Miles C; Sayer JA; Cimprich KA; Giles RH
    J Clin Invest; 2015 Sep; 125(9):3657-66. PubMed ID: 26301811
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Microtubule glycylation promotes attachment of basal bodies to the cell cortex.
    Junker AD; Soh AWJ; O'Toole ET; Meehl JB; Guha M; Winey M; Honts JE; Gaertig J; Pearson CG
    J Cell Sci; 2019 Aug; 132(15):. PubMed ID: 31243050
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).
    Rosati J; Altieri F; Tardivo S; Turco EM; Goldoni M; Spasari I; Ferrari D; Bernardini L; Lamorte G; Valente EM; Vescovi AL
    Stem Cell Res; 2018 Mar; 27():74-77. PubMed ID: 29334628
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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; 94(1):62-72. PubMed ID: 24360808
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Bld10/Cep135 stabilizes basal bodies to resist cilia-generated forces.
    Bayless BA; Giddings TH; Winey M; Pearson CG
    Mol Biol Cell; 2012 Dec; 23(24):4820-32. PubMed ID: 23115304
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.
    Altieri F; D'Anzi A; Martello F; Tardivo S; Spasari I; Ferrari D; Bernardini L; Lamorte G; Mazzoccoli G; Valente EM; Vescovi AL; Rosati J
    Stem Cell Res; 2019 Jul; 38():101480. PubMed ID: 31202121
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.
    Nozaki S; Katoh Y; Terada M; Michisaka S; Funabashi T; Takahashi S; Kontani K; Nakayama K
    J Cell Sci; 2017 Feb; 130(3):563-576. PubMed ID: 27927754
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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; 24(14):3994-4005. PubMed ID: 25877302
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane.
    Revenkova E; Liu Q; Gusella GL; Iomini C
    J Cell Sci; 2018 May; 131(9):. PubMed ID: 29592971
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.