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Page 1
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. 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.
Quiescence enables unrestricted cell fate in naive embryonic stem cells.
Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao RC, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Khoa LTP, et al. Among authors: bielas sl. Nat Commun. 2024 Feb 26;15(1):1721. doi: 10.1038/s41467-024-46121-1. Nat Commun. 2024. PMID: 38409226 Free PMC article.
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group; Valente EM, Gleeson JG. Brancati F, et al. Among authors: bielas sl. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Am J Hum Genet. 2007. PMID: 17564967 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: bielas sl. 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.
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: bielas sl. 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.
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