Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jon A. L. Willcox"'
Autor:
Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
Abstract Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tiss
Externí odkaz:
https://doaj.org/article/b7f196ef4fc94a1c9c9e2a38f2b299d7
Autor:
Daniel, Quiat, Seong Won, Kim, Qi, Zhang, Sarah U, Morton, Alexandre C, Pereira, Steven R, DePalma, Jon A L, Willcox, Barbara, McDonough, Daniel M, DeLaughter, Joshua M, Gorham, Justin J, Curran, Melissa, Tumblin, Yamileth, Nicolau, Maria A, Artunduaga, Lourdes, Quintanilla-Dieck, Gabriel, Osorno, Luis, Serrano, Usama, Hamdan, Roland D, Eavey, Christine E, Seidman, J G, Seidman
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(21)
Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains elusive, Amerindigenous populations ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b27d3e53278ed2af4f5b3a817d416e98
https://pubmed.ncbi.nlm.nih.gov/35584116
https://pubmed.ncbi.nlm.nih.gov/35584116
Autor:
Maria A. Telpoukhovskaia, Niran Hadad, Brianna Gurdon, Yanchao Dai, Andrew R. Ouellette, Sarah M. Neuner, Amy R. Dunn, Jon A. L. Willcox, Yiyang Wu, Logan Dumitrescu, Orhan Bellur, Ji-Gang Zhang, Kristen M.S. O’Connell, Eric B. Dammer, Nicholas T. Seyfried, Sukalp Muzumdar, Jesse Gillis, Paul Robson, Matthias Arnold, Timothy J. Hohman, Vivek M. Philip, Vilas Menon, Catherine C. Kaczorowski
SummaryAlzheimer’s disease (AD), the leading cause of dementia, affects millions of people worldwide. With no disease-modifying medication currently available, the human toll and economic costs are rising rapidly. Under current standards, a patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fdb21db92c8e73505377dd6c959f782
https://doi.org/10.1101/2022.04.12.487877
https://doi.org/10.1101/2022.04.12.487877
Autor:
Barbara McDonough, Alireza Haghighi, Joshua M. Gorham, Christine E. Seidman, Min Young Jang, Diane Fatkin, Neal K. Lakdawala, Parth N Patel, Amy E. Roberts, Kaoru Ito, Lien Lam, Steven R. DePalma, Jon G. Seidman, Renee Johnson, Stuart A. Cook, Jon A. L. Willcox, Paul J.R. Barton
Publikováno v:
Circulation: Genomic and Precision Medicine. 14
Background:HeterozygousTTNtruncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of the splice donor site, invariant dinucleotide of the sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5e32d5f19255fa0e02ed6e5311f90e5
https://doi.org/10.1161/circgen.121.003389
https://doi.org/10.1161/circgen.121.003389
Autor:
Parth N, Patel, Kaoru, Ito, Jon A L, Willcox, Alireza, Haghighi, Min Young, Jang, Joshua M, Gorham, Steven R, DePalma, Lien, Lam, Barbara, McDonough, Renee, Johnson, Neal K, Lakdawala, Amy, Roberts, Paul J R, Barton, Stuart A, Cook, Diane, Fatkin, Christine E, Seidman, J G, Seidman
Publikováno v:
Circ Genom Precis Med
BACKGROUND: Heterozygous truncating variants in titin (TTNtv) cause 10–20% of idiopathic dilated cardiomyopathy (DCM). Though variants which disrupt canonical splice signals (i.e. GT, AG) at exon-intron junctions are readily recognized as TTNtv, th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::45a433b82615eba94da903e812713b41
https://pubmed.ncbi.nlm.nih.gov/34461741
https://pubmed.ncbi.nlm.nih.gov/34461741
Autor:
Giuliana G. Repetti, Manuel Schmid, Paul Robinson, Jon A. L. Willcox, Christopher N. Toepfer, Alfonso Bueno-Orovio, Jonathan G. Seidman, Christine E. Seidman, Francesca Margara, Violetta Steeples, Marcelo Cicconet, Yiangos Psaras, Blanca Rodriguez, Charles Redwood, Alexander J Sparrow, Hugh Watkins
Publikováno v:
Circulation Research
Circulation research, vol 129, iss 2
Circulation research, vol 129, iss 2
Supplemental Digital Content is available in the text.
Rationale: Calcium transient analysis is central to understanding inherited and acquired cardiac physiology and disease. Although the development of novel calcium reporters enables assays of
Rationale: Calcium transient analysis is central to understanding inherited and acquired cardiac physiology and disease. Although the development of novel calcium reporters enables assays of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7caa84aa17acf4ecccacbe61254786e9
https://doi.org/10.1161/CIRCRESAHA.121.318868
https://doi.org/10.1161/CIRCRESAHA.121.318868
Autor:
Christopher N, Toepfer, Arun, Sharma, Marcelo, Cicconet, Amanda C, Garfinkel, Michael, Mücke, Meraj, Neyazi, Jon A L, Willcox, Radhika, Agarwal, Manuel, Schmid, Jyoti, Rao, Jourdan, Ewoldt, Olivier, Pourquié, Anant, Chopra, Christopher S, Chen, Jonathan G, Seidman, Christine E, Seidman
Publikováno v:
Circulation Research
Supplemental Digital Content is available in the text.
Rationale: Human induced pluripotent stem cell–derived cardiomyocytes (hiPSC-CMs) in combination with CRISPR/Cas9 genome editing provide unparalleled opportunities to study cardiac biology
Rationale: Human induced pluripotent stem cell–derived cardiomyocytes (hiPSC-CMs) in combination with CRISPR/Cas9 genome editing provide unparalleled opportunities to study cardiac biology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e67782a43abd48300bacca5df98b3462
http://europepmc.org/articles/PMC6485312
http://europepmc.org/articles/PMC6485312
Autor:
Bruce D. Gelb, Yuri Kim, Jonathan G. Seidman, Joshua M. Gorham, Kehan Zhang, Sylvia Varland, Christine E. Seidman, Tarsha Ward, Kris Gevaert, Richard P. Lifton, Min Young Jang, Alireza Haghighi, Alexandre C. Pereira, Elizabeth Goldmuntz, Wendy K. Chung, Jason Homsy, Warren Tai, Martina Brueckner, Jon A. L. Willcox, Christopher S. Chen, George A. Porter, Thomas Arnesen, Sarah U. Morton, Benoit G. Bruneau, H. Joseph Yost, Craig C. Benson, Evy Timmerman, Petra Van Damme, Francis Impens, Delphi Van Haver, Steven R. DePalma, Gabriela Venturini
Publikováno v:
Circ Res
CIRCULATION RESEARCH
CIRCULATION RESEARCH
Rationale: NAA15 (N-alpha-acetyltransferase 15) is a component of the NatA (N-terminal acetyltransferase complex). The mechanism by which NAA15 haploinsufficiency causes congenital heart disease remains unknown. To better understand molecular process
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db108ea6fa34d36c33c27e6635d0cb9e
https://pubmed.ncbi.nlm.nih.gov/33856919
https://pubmed.ncbi.nlm.nih.gov/33856919
Autor:
Angela Tai, Elizabeth Goldmuntz, Lauren K. Wasson, Yuri Kim, Manuel Schmid, Deepak Srivastava, Steven R. DePalma, Daniel M. DeLaughter, Jonathan G. Seidman, George A. Porter, Min Young Jang, Arun Sharma, Jon A. L. Willcox, Sarah U. Morton, Alexandre C. Pereira, Radhika Agarwal, Martin Tristani-Firouzi, Seongwon Kim, Joshua M. Gorham, Christine E. Seidman, Tarsha Ward, Christopher N. Toepfer, Meraj Neyazi, Daniel Bernstein, Wendy K. Chung, Bruce D. Gelb, David A. Conner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fabd1d03a5ba415963a8fa292ca44a3
https://doi.org/10.7554/elife.53278.sa2
https://doi.org/10.7554/elife.53278.sa2
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Autor:
Min Young Jang, Yuri Kim, Daniel Bernstein, Deepak Srivastava, Jonathan G. Seidman, Elizabeth Goldmuntz, Daniel M. DeLaughter, Manuel Schmid, Christopher N. Toepfer, David A. Conner, Angela Tai, Steven R. DePalma, Alexandre C. Pereira, Bruce D. Gelb, Jon A. L. Willcox, Meraj Neyazi, George A. Porter, Arun Sharma, Radhika Agarwal, Martin Tristani-Firouzi, Tarsha Ward, Lauren K. Wasson, Sarah U. Morton, Seongwon Kim, Joshua M. Gorham, Christine E. Seidman, Wendy K. Chung
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
Damaging GATA6 variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to GATA6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51de88b22f3a5c2a28b73b2abb3577b3
http://europepmc.org/articles/PMC7593088
http://europepmc.org/articles/PMC7593088