Danon disease for the cardiologist: case report and review of the literature

por D’souza, Ryan S., Mestroni, Luisa, Taylor, Matthew R. G.
Publicado 2017

The Giant Protein Titin’s Role in Cardiomyopathy: Genetic, Transcriptional, and Post-translational Modifications of TTN and Their Contribution to Cardiac Disease

por Tharp, Charles A., Haywood, Mary E., Sbaizero, Orfeo, Taylor, Matthew R. G., Mestroni, Luisa
Publicado 2019

Mechanisms and Insights for the Development of Heart Failure Associated with Cancer Therapy

por Fraley, Claire, Milgrom, Sarah A., Kondapalli, Lavanya, Taylor, Matthew R. G., Mestroni, Luisa, Miyamoto, Shelley D.
Publicado 2021

Altered microtubule structure, hemichannel localization and beating activity in cardiomyocytes expressing pathologic nuclear lamin A/C

por Borin, Daniele, Peña, Brisa, Chen, Suet Nee, Long, Carlin S., Taylor, Matthew R.G., Mestroni, Luisa, Sbaizero, Orfeo
Publicado 2020

Compromised Biomechanical Properties, Cell–Cell Adhesion and Nanotubes Communication in Cardiac Fibroblasts Carrying the Lamin A/C D192G Mutation

por Lachaize, Veronique, Peña, Brisa, Ciubotaru, Catalin, Cojoc, Dan, Chen, Suet Nee, Taylor, Matthew R. G., Mestroni, Luisa, Sbaizero, Orfeo
Publicado 2021

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

por Gigli, Marta, Begay, Rene L., Morea, Gaetano, Graw, Sharon L., Sinagra, Gianfranco, Taylor, Matthew R. G., Granzier, Henk, Mestroni, Luisa
Publicado 2016

The Cardiomyopathy Lamin A/C D192G Mutation Disrupts Whole-Cell Biomechanics in Cardiomyocytes as Measured by Atomic Force Microscopy Loading-Unloading Curve Analysis

por Lanzicher, Thomas, Martinelli, Valentina, Puzzi, Luca, Del Favero, Giorgia, Codan, Barbara, Long, Carlin S., Mestroni, Luisa, Taylor, Matthew R. G., Sbaizero, Orfeo
Publicado 2015

Biomimetic Polymers for Cardiac Tissue Engineering

por Peña, Brisa, Martinelli, Valentina, Jeong, Mark, Bosi, Susanna, Lapasin, Romano, Taylor, Matthew R. G., Long, Carlin S., Shandas, Robin, Park, Daewon, Mestroni, Luisa
Publicado 2016

Danon Disease-Associated LAMP-2 Deficiency Drives Metabolic Signature Indicative of Mitochondrial Aging and Fibrosis in Cardiac Tissue and hiPSC-Derived Cardiomyocytes

por Del Favero, Giorgia, Bonifacio, Alois, Rowland, Teisha J., Gao, Shanshan, Song, Kunhua, Sergo, Valter, Adler, Eric D., Mestroni, Luisa, Sbaizero, Orfeo, Taylor, Matthew R. G.
Publicado 2020

Cellular Biomechanic Impairment in Cardiomyocytes Carrying the Progeria Mutation: An Atomic Force Microscopy Investigation

por Peña, Brisa, Gao, Shanshan, Borin, Daniele, Del Favero, Giorgia, Abdel-Hafiz, Mostafa, Farahzad, Nasim, Lorenzon, Paola, Sinagra, Gianfranco, Taylor, Matthew R. G., Mestroni, Luisa, Sbaizero, Orfeo
Publicado 2022

Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

por Campbell, Nzali, Sinagra, Gianfranco, Jones, Kenneth L., Slavov, Dobromir, Gowan, Katherine, Merlo, Marco, Carniel, Elisa, Fain, Pamela R., Aragona, Pierluigi, Di Lenarda, Andrea, Mestroni, Luisa, Taylor, Matthew R. G.
Publicado 2013

Transcriptome analysis of human heart failure reveals dysregulated cell adhesion in dilated cardiomyopathy and activated immune pathways in ischemic heart failure

por Sweet, Mary E., Cocciolo, Andrea, Slavov, Dobromir, Jones, Kenneth L., Sweet, Joseph R., Graw, Sharon L., Reece, T. Brett, Ambardekar, Amrut V., Bristow, Michael R., Mestroni, Luisa, Taylor, Matthew R. G.
Publicado 2018

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease

por Terhune, Elizabeth A., Wethey, Cambria I., Cuevas, Melissa T., Monley, Anna M., Baschal, Erin E., Bland, Morgan R., Baschal, Robin, Trahan, G. Devon, Taylor, Matthew R. G., Jones, Kenneth L., Hadley Miller, Nancy
Publicado 2021

Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide

por Schiffmann, Raphael, Forni, Sabrina, Swift, Caren, Brignol, Nastry, Wu, Xiaoyang, Lockhart, David J., Blankenship, Derek, Wang, Xuan, Grayburn, Paul A., Taylor, Matthew R. G., Lowes, Brian D., Fuller, Maria, Benjamin, Elfrida R., Sweetman, Lawrence
Publicado 2014

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies

por Bui, Quan M., Hong, Kimberly N., Kraushaar, Megan, Ma, Gary S., Brambatti, Michela, Kahn, Andrew M., Battiha, Carol Elias, Boynton, Kylie, Storm, Garrett, Mestroni, Luisa, Taylor, Matthew R. G., DeMaria, Anthony N., Adler, Eric A.
Publicado 2021

The 2019 US medical genetics workforce: a focus on clinical genetics

por Jenkins, Brittany D., Fischer, Catherine G., Polito, Curt A., Maiese, Deborah R., Keehn, Alisha S., Lyon, Megan, Edick, Mathew J., Taylor, Matthew R. G., Andersson, Hans C., Bodurtha, Joann N., Blitzer, Miriam G., Muenke, Maximilian, Watson, Michael S.
Publicado 2021

Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study

por MacRae, Calum A., Taylor, Matthew R.G., Mestroni, Luisa, Moses, John, Ashley, Euan A., Wheeler, Matthew T., Lakdawala, Neal K., Hershberger, Ray E., Sandor, Victor, Saunders, Michael E., Oliver, Colleen, Lee, Patrice A., Judge, Daniel P.
Publicado 2022

Transcatheter aortic valve replacements alter circulating serum factors to mediate myofibroblast deactivation

por Aguado, Brian A., Schuetze, Katherine B., Grim, Joseph C., Walker, Cierra J., Cox, Anne C., Ceccato, Tova L., Tan, Aik-Choon, Sucharov, Carmen C., Leinwand, Leslie A., Taylor, Matthew R. G., McKinsey, Timothy A., Anseth, Kristi S.
Publicado 2019

Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

por Baschal, Erin E., Wethey, Cambria I., Swindle, Kandice, Baschal, Robin M., Gowan, Katherine, Tang, Nelson L.S., Alvarado, David M., Haller, Gabe E., Dobbs, Matthew B., Taylor, Matthew R.G., Gurnett, Christina A., Jones, Kenneth L., Miller, Nancy H.
Publicado 2014

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life‐Threatening Arrhythmias

por Spezzacatene, Anita, Sinagra, Gianfranco, Merlo, Marco, Barbati, Giulia, Graw, Sharon L., Brun, Francesca, Slavov, Dobromir, Di Lenarda, Andrea, Salcedo, Ernesto E., Towbin, Jeffrey A., Saffitz, Jeffrey E., Marcus, Frank I., Zareba, Wojciech, Taylor, Matthew R. G., Mestroni, Luisa
Publicado 2015