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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T. Thomas S, et al. Among authors: caspary t. Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138100 Free PMC article.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG. Cantagrel V, et al. Among authors: caspary t. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.
Arl13b and the exocyst interact synergistically in ciliogenesis.
Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Seixas C, et al. Among authors: caspary t. Mol Biol Cell. 2016 Jan 15;27(2):308-20. doi: 10.1091/mbc.E15-02-0061. Epub 2015 Nov 18. Mol Biol Cell. 2016. PMID: 26582389 Free PMC article.
Arl13b regulates Shh signaling from both inside and outside the cilium.
Mariani LE, Bijlsma MF, Ivanova AA, Suciu SK, Kahn RA, Caspary T. Mariani LE, et al. Among authors: caspary t. Mol Biol Cell. 2016 Sep 28;27(23):3780-90. doi: 10.1091/mbc.E16-03-0189. Online ahead of print. Mol Biol Cell. 2016. PMID: 27682584 Free PMC article.
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA. Rafiullah R, et al. Among authors: caspary t. Eur J Hum Genet. 2017 Dec;25(12):1324-1334. doi: 10.1038/s41431-017-0031-0. Epub 2017 Nov 15. Eur J Hum Genet. 2017. PMID: 29255182 Free PMC article.
71 results