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333 results

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Page 1
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: gleeson jg. 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.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Among authors: gleeson jg. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Pa… See abstract for full author list ➔ Travaglini L, et al. Among authors: gleeson jg. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: gleeson jg. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. Valente EM, et al. Among authors: gleeson jg. Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30. Nat Genet. 2010. PMID: 20512146 Free PMC article.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. Cantagrel V, et al. Among authors: gleeson jg. Cell. 2010 Jul 23;142(2):203-17. doi: 10.1016/j.cell.2010.06.001. Epub 2010 Jul 15. Cell. 2010. PMID: 20637498 Free PMC article.
333 results