371 Decreased Contraction Rate, Altered Calcium Transients, and Increased Proliferation seen in Patient-specific iPSC-CMs Modeling Ebsteins Anomaly and Left Ventricular Noncompaction

OBJECTIVES/GOALS: In a familial case where 10 of 17 members inherited EA/LVNC in an autosomal dominant pattern, we discovered a novel, damaging missense variant in the gene KLHL26 that segregates with disease and comprises an altered electrostatic surface profile, likely decoupling the CUL3-interact...

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Detalles Bibliográficos
Autores principales: Samudrala, Sai Suma, Anfinson, Melissa, Cavanaugh, Matthew, Kim, Min-Su, Lamberton, Peter, Radandt, Jackson, Brown, Ryan, Liang, Huan Ling, Stamm, Karl, Zeeshan, Afzal, Strande, Jennifer, Frommelt, Michele, Lough, John W., Fitts, Robert, Mitchell, Michael E., Tomita-Mitchel, Aoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2022
Materias:
Valued Approaches
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209070/
http://dx.doi.org/10.1017/cts.2022.211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9209070/
http://dx.doi.org/10.1017/cts.2022.211

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