212 related articles for article (PubMed ID: 33531668)
1. Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Luo M; Lin Z; Zhu T; Jin M; Meng D; He R; Cao Z; Shen Y; Lu C; Cai R; Zhao Y; Wang X; Li H; Wu S; Zou X; Luo G; Cao L; Huang M; Jiao H; Gao H; Sui R; Zhao C; Ma X; Cao M
Genet Med; 2021 Jun; 23(6):1041-1049. PubMed ID: 33531668
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. INPP5E regulates phosphoinositide-dependent cilia transition zone function.
Dyson JM; Conduit SE; Feeney SJ; Hakim S; DiTommaso T; Fulcher AJ; Sriratana A; Ramm G; Horan KA; Gurung R; Wicking C; Smyth I; Mitchell CA
J Cell Biol; 2017 Jan; 216(1):247-263. PubMed ID: 27998989
[TBL] [Abstract][Full Text] [Related]
7. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S; Molinari E; Shaheen R; Elmaghloob Y; Stephen LA; Sammut V; Ramsbottom SA; Srivastava S; Cairns G; Edwards N; Rice SJ; Ewida N; Alhashem A; White K; Miles CG; Steel DH; Alkuraya FS; Ismail S; Sayer JA
Am J Hum Genet; 2018 Oct; 103(4):612-620. PubMed ID: 30269812
[TBL] [Abstract][Full Text] [Related]
8. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL; Van De Weghe JC; Rusterholz TD; Letteboer SJ; Gomez A; Shaheen R; Gesemann M; Karamzade A; Asadollahi M; Barroso-Gil M; Chitre M; Grout ME; van Reeuwijk J; van Beersum SE; Miller CV; Dempsey JC; Morsy H; ; Bamshad MJ; ; Nickerson DA; Neuhauss SC; Boldt K; Ueffing M; Keramatipour M; Sayer JA; Alkuraya FS; Bachmann-Gagescu R; Roepman R; Doherty D
J Clin Invest; 2020 Aug; 130(8):4423-4439. PubMed ID: 32453716
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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; 104(4):731-737. PubMed ID: 30905400
[TBL] [Abstract][Full Text] [Related]
11. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R; Romani M; D'Arrigo S; Zaki MS; Lorefice E; Tardivo S; Biagini T; Stanley V; Musaev D; Fluss J; Micalizzi A; Nuovo S; Illi B; Chiapparini L; Di Marcotullio L; Issa MY; Anello D; Casella A; Ginevrino M; Leggins AS; Roosing S; Alfonsi R; Rosati J; Schot R; Mancini GMS; Bertini E; Dobyns WB; Mazza T; Gleeson JG; Valente EM
Am J Hum Genet; 2017 Oct; 101(4):552-563. PubMed ID: 28965847
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. 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; 22(7):1358-72. PubMed ID: 23283079
[TBL] [Abstract][Full Text] [Related]
14. 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; 41(12):2179-2194. PubMed ID: 33131181
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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; 26(23):4657-4667. PubMed ID: 28973549
[TBL] [Abstract][Full Text] [Related]
18. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
Zhang YW; Qu HB; Long N; Leng XY; Liu YQ; Yang Y
Mol Genet Genomics; 2021 Jan; 296(1):33-40. PubMed ID: 32944789
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
