438 related articles for article (PubMed ID: 29052317)
1. Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I; Soldatos A; Davids M; Vilboux T; Toro C; David KL; Ferreira CR; Nehrebecky M; Snow J; Thurm A; Heller T; Macnamara EF; Gunay-Aygun M; Zein WM; Gahl WA; Malicdan MCV
Am J Med Genet A; 2017 Dec; 173(12):3231-3237. PubMed ID: 29052317
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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; 104(4):731-737. PubMed ID: 30905400
[TBL] [Abstract][Full Text] [Related]
5. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Tuncel G; Kaymakamzade B; Engindereli Y; Temel SG; Ergoren MC
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205586
[TBL] [Abstract][Full Text] [Related]
6. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A; Naushad SM; Lingappa L
Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
[TBL] [Abstract][Full Text] [Related]
7. An elusive ciliopathy: Joubert syndrome.
Canepa C; Burton B; Muhith A
BMJ Case Rep; 2017 Jun; 2017():. PubMed ID: 28667057
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S; Wright KJ; Le Corre S; Micalizzi A; Romani M; Abhyankar A; Saada J; Perrault I; Amiel J; Litzler J; Filhol E; Elkhartoufi N; Kwong M; Casanova JL; Boddaert N; Baehr W; Lyonnet S; Munnich A; Burglen L; Chassaing N; Encha-Ravazi F; Vekemans M; Gleeson JG; Valente EM; Jackson PK; Drummond IA; Saunier S; Attié-Bitach T
Hum Mutat; 2014 Jan; 35(1):137-46. PubMed ID: 24166846
[TBL] [Abstract][Full Text] [Related]
10. INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.
Plotnikova OV; Seo S; Cottle DL; Conduit S; Hakim S; Dyson JM; Mitchell CA; Smyth IM
J Cell Sci; 2015 Jan; 128(2):364-72. PubMed ID: 25395580
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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; ; Johnson C; Attié-Bitach T; Gleeson JG; Valente EM
Eur J Hum Genet; 2013 Oct; 21(10):1074-8. PubMed ID: 23386033
[TBL] [Abstract][Full Text] [Related]
13. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Stephen J; Vilboux T; Mian L; Kuptanon C; Sinclair CM; Yildirimli D; Maynard DM; Bryant J; Fischer R; Vemulapalli M; Mullikin JC; ; Huizing M; Gahl WA; Malicdan MCV; Gunay-Aygun M
Hum Genet; 2017 Apr; 136(4):399-408. PubMed ID: 28220259
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
; Khan S; Ullah I; Nasir A; Meijer CA; Laurense-Bik M; den Dunnen JT; Ruivenkamp CA; Hoffer MJ; Santen GW; Ahmad W
Am J Med Genet A; 2016 Dec; 170(12):3289-3293. PubMed ID: 27570071
[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. 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; 16():293. PubMed ID: 26714646
[TBL] [Abstract][Full Text] [Related]
20. A case of Joubert syndrome caused by novel compound heterozygous variants in the
Kozina AA; Kanaeva GK; Baryshnikova NV; Ilinskaya AY; Kim AA; Erofeeva AV; Pogodina NA; Gadzhiyeva JP; Surkova EI; Ilinsky VV
J Int Med Res; 2023 Oct; 51(10):3000605231206294. PubMed ID: 37910852
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]