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47 results

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Page 1
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: illi b. 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.
c-MYC inhibition impairs hypoxia response in glioblastoma multiforme.
Mongiardi MP, Savino M, Falchetti ML, Illi B, Bozzo F, Valle C, Helmer-Citterich M, Ferrè F, Nasi S, Levi A. Mongiardi MP, et al. Among authors: illi b. Oncotarget. 2016 May 31;7(22):33257-71. doi: 10.18632/oncotarget.8921. Oncotarget. 2016. PMID: 27119353 Free PMC article.
Resetting cancer stem cell regulatory nodes upon MYC inhibition.
Galardi S, Savino M, Scagnoli F, Pellegatta S, Pisati F, Zambelli F, Illi B, Annibali D, Beji S, Orecchini E, Alberelli MA, Apicella C, Fontanella RA, Michienzi A, Finocchiaro G, Farace MG, Pavesi G, Ciafrè SA, Nasi S. Galardi S, et al. Among authors: illi b. EMBO Rep. 2016 Dec;17(12):1872-1889. doi: 10.15252/embr.201541489. Epub 2016 Nov 16. EMBO Rep. 2016. PMID: 27852622 Free PMC article.
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. De Mori R, et al. Among authors: illi b. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC article.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. De Mori R, et al. Among authors: illi b. Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. Brain. 2019. PMID: 31412107 Free PMC article.
NO points to epigenetics in vascular development.
Illi B, Colussi C, Rosati J, Spallotta F, Nanni S, Farsetti A, Capogrossi MC, Gaetano C. Illi B, et al. Cardiovasc Res. 2011 Jun 1;90(3):447-56. doi: 10.1093/cvr/cvr056. Epub 2011 Feb 22. Cardiovasc Res. 2011. PMID: 21345806 Review.
47 results