190 related articles for article (PubMed ID: 38502237)
1. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
De Mori R; Tardivo S; Pollara L; Giliani SC; Ali E; Giordano L; Leuzzi V; Fischetto R; Gener B; Diprima S; Morelli MJ; Monti MC; Sottile V; Valente EM
Cell Tissue Res; 2024 May; 396(2):255-267. PubMed ID: 38502237
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome.
Bashford AL; Subramanian V
J Pathol; 2019 Aug; 248(4):396-408. PubMed ID: 30924151
[TBL] [Abstract][Full Text] [Related]
6. A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M; Mojarad M; Ghayoor Karimiani E; Vahidi Mehrjardi MY; Sahebalzamani A; Ashrafzadeh F; Beiraghi Toosi M; Eslahi A; Ahangari N; Yassini SM; Hassanbeigi A; Rasti A; Kalantar SM; Maroofian R
Public Health Genomics; 2017; 20(3):188-193. PubMed ID: 28719906
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A; Babaei M; Saberi M; Golchin N; Khalil Nejad Sani Banaei A; Eshaghkhani Y; Golchehre Z; Keramatipour M
Mol Biol Rep; 2021 Jun; 48(6):5339-5345. PubMed ID: 34191236
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.
Katiyar D; Anderson N; Bommireddipalli S; Bournazos A; Cooper S; Goel H
Eur J Med Genet; 2020 Sep; 63(9):104000. PubMed ID: 32622957
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Ali E; Ferraro RM; Guglielmi A; Lanzi G; Masneri S; Piovani G; Mazzoldi EL; Pollara L; Valente EM; Accorsi P; Giordano L; Giliani SC
Stem Cell Res; 2021 Jul; 54():102430. PubMed ID: 34182252
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Using in vivo cerebellar electroporation to study neuronal cell proliferation and differentiation in a Joubert syndrome mouse model.
Chang CH; Chen TY; Tang TK
Methods Cell Biol; 2023; 175():235-249. PubMed ID: 36967143
[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 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]
19. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R; Dempsey JC; Phelps IG; O'Roak BJ; Knutzen DM; Rue TC; Ishak GE; Isabella CR; Gorden N; Adkins J; Boyle EA; de Lacy N; O'Day D; Alswaid A; Ramadevi A R; Lingappa L; Lourenço C; Martorell L; Garcia-Cazorla À; Ozyürek H; Haliloğlu G; Tuysuz B; Topçu M; ; Chance P; Parisi MA; Glass IA; Shendure J; Doherty D
J Med Genet; 2015 Aug; 52(8):514-22. PubMed ID: 26092869
[TBL] [Abstract][Full Text] [Related]
20. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
