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Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
Murayama R, Kimura-Asami M, Togo-Ohno M, Yamasaki-Kato Y, Naruse TK, Yamamoto T, Hayashi T, Ai T, Spoonamore KG, Kovacs RJ, Vatta M, Iizuka M, Saito M, Wani S, Hiraoka Y, Kimura A, Kuroyanagi H. Murayama R, et al. Among authors: spoonamore kg. Sci Rep. 2018 Jun 12;8(1):8970. doi: 10.1038/s41598-018-26624-w. Sci Rep. 2018. PMID: 29895960 Free PMC article.
Erratum to: At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
Morales A, Allain DC, Arscott P, James E, MacCarrick G, Murray B, Tichnell C, Shikany AR, Spencer S, Fitzgerald-Butt SM, Kushner JD, Munn C, Smith E, Spoonamore KG, Tandri HS, Aaron Kay W. Morales A, et al. Among authors: spoonamore kg. J Genet Couns. 2017 Aug;26(4):689. doi: 10.1007/s10897-017-0101-z. J Genet Couns. 2017. PMID: 28470398 Free article. No abstract available.
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
Morales A, Allain DC, Arscott P, James E, MacCarrick G, Murray B, Tichnell C, Shikany AR, Spencer S, Fitzgerald-Butt SM, Kushner JD, Munn C, Smith E, Spoonamore KG, Tandri HS, Kay WA. Morales A, et al. Among authors: spoonamore kg. J Genet Couns. 2017 Aug;26(4):669-688. doi: 10.1007/s10897-017-0081-z. Epub 2017 Mar 10. J Genet Couns. 2017. PMID: 28283918 Free article. Review.
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. Among authors: spoonamore kg. Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365. Hum Mol Genet. 2017. PMID: 28013292 Free article.
15 results