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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena NT, Gabriel GC, Liu X, Gulec C, Grarup N, Haessler J, Hall LM, Iorio A, Isaacs A, Li-Gao R, Lin H, Liu CT, Lyytikäinen LP, Marten J, Mei H, Müller-Nurasyid M, Orini M, Padmanabhan S, Radmanesh F, Ramirez J, Robino A, Schwartz M, van Setten J, Smith AV, Verweij N, Warren HR, Weiss S, Alonso A, Arnar DO, Bots ML, de Boer RA, Dominiczak AF, Eijgelsheim M, Ellinor PT, Guo X, Felix SB, Harris TB, Hayward C, Heckbert SR, Huang PL, Jukema JW, Kähönen M, Kors JA, Lambiase PD, Launer LJ, Li M, Linneberg A, Nelson CP, Pedersen O, Perez M, Peters A, Polasek O, Psaty BM, Raitakari OT, Rice KM, Rotter JI, Sinner MF, Soliman EZ, Spector TD, Strauch K, Thorsteinsdottir U, Tinker A, Trompet S, Uitterlinden A, Vaartjes I, van der Meer P, Völker U, Völzke H, Waldenberger M, Wilson JG, Xie Z, Asselbergs FW, Dörr M, van Duijn CM, Gasparini P, Gudbjartsson DF, Gudnason V, Hansen T, Kääb S, Kanters JK, Kooperberg C, Lehtimäki T, Lin HJ, Lubitz SA, Mook-Kanamori DO, Conti FJ, Newton-Cheh CH, Rosand J, Rudan I, Samani NJ, Sinagra G, Smith BH, Holm H, Stricke… See abstract for full author list ➔ Prins BP, et al. Among authors: conti fj. Genome Biol. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6. Genome Biol. 2018. PMID: 30012220 Free PMC article.
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
Muggenthaler M, Petropoulou E, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y. Muggenthaler M, et al. Among authors: conti fj. Int J Cardiol. 2016 May 1;210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13. Int J Cardiol. 2016. PMID: 26922712 Free article. No abstract available.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC. Osborn DPS, et al. Among authors: conti fj. Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190459 Free PMC article.
Necroptosis mediates myofibre death in dystrophin-deficient mice.
Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M. Morgan JE, et al. Among authors: conti f. Nat Commun. 2018 Sep 7;9(1):3655. doi: 10.1038/s41467-018-06057-9. Nat Commun. 2018. PMID: 30194302 Free PMC article.
Multiple roles of integrin-α3 at the neuromuscular junction.
Ross JA, Webster RG, Lechertier T, Reynolds LE, Turmaine M, Bencze M, Jamshidi Y, Cetin H, Muntoni F, Beeson D, Hodilvala-Dilke K, Conti FJ. Ross JA, et al. Among authors: conti fj. J Cell Sci. 2017 May 15;130(10):1772-1784. doi: 10.1242/jcs.201103. Epub 2017 Apr 6. J Cell Sci. 2017. PMID: 28386022 Free PMC article.
15 results