256 related articles for article (PubMed ID: 33131181)
1. 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]
2. 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]
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. 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]
5. 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]
6. 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]
7. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X; Garcia G; Van De Weghe JC; McGorty R; Pazour GJ; Doherty D; Huang B; Reiter JF
Nat Cell Biol; 2017 Oct; 19(10):1178-1188. PubMed ID: 28846093
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Roosing S; Rosti RO; Rosti B; de Vrieze E; Silhavy JL; van Wijk E; Wakeling E; Gleeson JG
Hum Genet; 2016 Aug; 135(8):919-921. PubMed ID: 27245168
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
Xiao D; Lv C; Zhang Z; Wu M; Zheng X; Yang L; Li X; Wu G; Chen J
Mol Med Rep; 2017 Jan; 15(1):305-308. PubMed ID: 27959436
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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; 53(9):608-15. PubMed ID: 27208211
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
