Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ellis Y. Kim"'
Autor:
Emily A. Waters, Lorenzo L. Pesce, Elizabeth M. McNally, Judy U. Earley, Ellis Y. Kim, Megan J. Puckelwartz, Michele Hadhazy, Lisa Dellefave-Castillo, Lisa D. Wilsbacher, David Y. Barefield, Andy H. Vo
Publikováno v:
Circulation. 136:1477-1491
Background: Cardiomyopathy and arrhythmias are under significant genetic influence. Here, we studied a family with dilated cardiomyopathy and associated conduction system disease in whom prior clinical cardiac gene panel testing was unrevealing. Meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f885a79b34ef58afede33238ca82beb6
https://doi.org/10.1161/circulationaha.117.028585
https://doi.org/10.1161/circulationaha.117.028585
Autor:
Cheng Sun, Janel L. Davis, Andy H. Vo, Alexis R. Demonbreun, Emma J. Schuster, Patrick Page, Lisa Dellefave-Castillo, Eugene Wyatt, Hao Zhang, Biqin Dong, Elizabeth M. McNally, David Y. Barefield, Ellis Y. Kim, Anthony Gacita
Publikováno v:
JCI Insight.
Myotonic dystrophy (DM) is the most common autosomal dominant muscular dystrophy and encompasses both skeletal muscle and cardiac complications. DM is nucleotide repeat expansion disorder in which type 1 (DM1) is due to a trinucleotide repeat expansi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57740891e9df0c7b1bd1ab2d2e1d690
https://doi.org/10.1172/jci.insight.122686
https://doi.org/10.1172/jci.insight.122686
Autor:
Quan Q. Gao, Elizabeth M. McNally, Lisa Dellefave-Castillo, Andy H. Vo, Mayana Zatz, Ellis Y. Kim, Alexis R. Demonbreun, Rita de Cássia M. Pavanello, Eugene Wyatt, Megan J. Puckelwartz, Mariz Vainzof
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Exon skipping uses chemically modified antisense oligonucleotides to modulate RNA splicing. Therapeutically, exon skipping can bypass mutations and restore reading frame disruption by generating internally truncated, functional proteins to rescue the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c44199a2a5a0d947f0d7ddfb60be2a8
https://europepmc.org/articles/PMC6012523/
https://europepmc.org/articles/PMC6012523/
Publikováno v:
Skeletal Muscle
Background Cellular models of muscle disease are taking on increasing importance with the large number of genes and mutations implicated in causing myopathies and the concomitant need to test personalized therapies. Developing cell models relies on h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::808608cef5afd8037a42b5954792aa98
https://pubmed.ncbi.nlm.nih.gov/27651888
https://pubmed.ncbi.nlm.nih.gov/27651888
Autor:
Chulsoo Kim, Ellis Y. Kim
Publikováno v:
Korea Social Policy Review. 16:57-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::339712591acbd4c5e6d156a2ee3b6433
https://doi.org/10.17000/kspr.16.2.201001.57
https://doi.org/10.17000/kspr.16.2.201001.57
Autor:
Elizabeth M. McNally, Alexis R. Demonbreun, Kayleigh A. Swaggart, Kevin Squire, Stanley F. Nelson, John Fahrenbach, Zugen Chen, Ascia Eskin, Ahlke Heydemann, Kaitlin E. Swanson, Jenan Holley-Cuthrell, Abraham A. Palmer, Andy H. Vo, Ellis Y. Kim
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 16
Swaggart, KA; Demonbreun, AR; Vo, AH; Swanson, KE; Kim, EY; Fahrenbach, JP; et al.(2014). Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proceedings of the National Academy of Sciences of the United States of America, 111(16), 6004-6009. doi: 10.1073/pnas.1324242111. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4161h694
Swaggart, KA; Demonbreun, AR; Vo, AH; Swanson, KE; Kim, EY; Fahrenbach, JP; et al.(2014). Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proceedings of the National Academy of Sciences of the United States of America, 111(16), 6004-6009. doi: 10.1073/pnas.1324242111. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4161h694
Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f31ec6580fa0da7f1bd48f63c6e8f9f1
https://escholarship.org/uc/item/4161h694
https://escholarship.org/uc/item/4161h694