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Page 1
Ondansetron blocks wild-type and p.F503L variant small-conductance Ca2+-activated K+ channels.
Ko JS, Guo S, Hassel J, Celestino-Soper P, Lynnes TC, Tisdale JE, Zheng JJ, Taylor SE, Foroud T, Murray MD, Kovacs RJ, Li X, Lin SF, Chen Z, Vatta M, Chen PS, Rubart M. Ko JS, et al. Am J Physiol Heart Circ Physiol. 2018 Aug 1;315(2):H375-H388. doi: 10.1152/ajpheart.00479.2017. Epub 2018 Apr 20. Am J Physiol Heart Circ Physiol. 2018. PMID: 29677462 Free PMC article.
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N. Piccolo P, et al. Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365. Hum Mol Genet. 2017. PMID: 28013292 Free article.
Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
Celestino-Soper PB, Doytchinova A, Steiner HA, Uradu A, Lynnes TC, Groh WJ, Miller JM, Lin H, Gao H, Wang Z, Liu Y, Chen PS, Vatta M. Celestino-Soper PB, et al. PLoS One. 2016 Jan 15;11(1):e0147455. doi: 10.1371/journal.pone.0147455. eCollection 2016. PLoS One. 2016. PMID: 26771585 Free PMC article. No abstract available.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz P, State MW, Beaudet AL. Celestino-Soper PB, et al. Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363. Epub 2011 Aug 24. Hum Mol Genet. 2011. PMID: 21865298 Free PMC article.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL. Celestino-Soper PB, et al. Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7. Proc Natl Acad Sci U S A. 2012. PMID: 22566635 Free PMC article.
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