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311 results

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Page 1
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: katsanis n. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: katsanis n. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
In vivo modeling of the morbid human genome using Danio rerio.
Niederriter AR, Davis EE, Golzio C, Oh EC, Tsai IC, Katsanis N. Niederriter AR, et al. Among authors: katsanis n. J Vis Exp. 2013 Aug 24;(78):e50338. doi: 10.3791/50338. J Vis Exp. 2013. PMID: 23995499 Free PMC article.
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N. Lindstrand A, et al. Among authors: katsanis n. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17. Am J Hum Genet. 2014. PMID: 24746959 Free PMC article.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Niihori T, et al. Among authors: katsanis n. Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130285 Free PMC article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: katsanis n. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, Stanghellini V, Cogliandro RF, Lindberg G, Mungan Z, Cefle K, Ozcelik T, Palanduz S, Ozturk S, Gedikbasi A, Gori A, Pippucci T, Graziano C, Volta U, Caio G, Barbara G, D'Amato M, Seri M, Katsanis N, Romeo G, De Giorgio R. Bonora E, et al. Among authors: katsanis n. Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6. Gastroenterology. 2015. PMID: 25575569 Free PMC article.
311 results