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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: gennarino va. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Determining the effects of loss of function mutations in human cell lines.
de Prisco N, Botta S, Lee W, Rezazadeh S, Chemiakine A, Gennarino VA. de Prisco N, et al. Among authors: gennarino va. STAR Protoc. 2022 Mar 15;3(2):101232. doi: 10.1016/j.xpro.2022.101232. eCollection 2022 Jun 17. STAR Protoc. 2022. PMID: 35310075 Free PMC article.
A gene network regulating lysosomal biogenesis and function.
Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. Sardiello M, et al. Among authors: gennarino va. Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25. Science. 2009. PMID: 19556463
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p.
Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HY. Han K, et al. Among authors: gennarino va. Genes Dev. 2013 Mar 1;27(5):485-90. doi: 10.1101/gad.207456.112. Epub 2013 Feb 21. Genes Dev. 2013. PMID: 23431031 Free PMC article.
microRNAs and genetic diseases.
Meola N, Gennarino VA, Banfi S. Meola N, et al. Among authors: gennarino va. Pathogenetics. 2009 Nov 4;2(1):7. doi: 10.1186/1755-8417-2-7. Pathogenetics. 2009. PMID: 19889204 Free PMC article.
miRNeye: a microRNA expression atlas of the mouse eye.
Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dollé P, Banfi S. Karali M, et al. Among authors: gennarino va. BMC Genomics. 2010 Dec 20;11:715. doi: 10.1186/1471-2164-11-715. BMC Genomics. 2010. PMID: 21171988 Free PMC article.
30 results