Zobrazeno 1 - 10
of 313
pro vyhledávání: '"Daniel P Judge"'
Autor:
Peiheng Gan, Michaela Patterson, Alexa Velasquez, Kristy Wang, Di Tian, Jolene J Windle, Ge Tao, Daniel P Judge, Takako Makita, Thomas J Park, Henry M Sucov
Publikováno v:
PLoS Genetics, Vol 15, Iss 10, p e1008354 (2019)
Recent evidence implicates mononuclear diploid cardiomyocytes as a proliferative and regenerative subpopulation of the postnatal heart. The number of these cardiomyocytes is a complex trait showing substantial natural variation among inbred mouse str
Externí odkaz:
https://doaj.org/article/b0cd004e06be40bea92e5a2d3d6387fa
Autor:
Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)
AIMS:Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the gene
Externí odkaz:
https://doaj.org/article/8c4c11f0bd934c179abf128780e3a5e2
Autor:
Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Alexandre Bolze, Daniel P. Judge, Pamala A. Pawloski, Joseph J. Grzymski, William Lee, Nicole L. Washington
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100284- (2024)
Summary: Systematic determination of novel variant pathogenicity remains a major challenge, even when there is an established association between a gene and phenotype. Here we present Power Window (PW), a sliding window technique that identifies the
Externí odkaz:
https://doaj.org/article/ffcb428f5ebf4f868608483d17c12616
A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome
Autor:
Jefferson J Doyle, Alexander J Doyle, Nicole K Wilson, Jennifer P Habashi, Djahida Bedja, Ryan E Whitworth, Mark E Lindsay, Florian Schoenhoff, Loretha Myers, Nick Huso, Suha Bachir, Oliver Squires, Benjamin Rusholme, Hamid Ehsan, David Huso, Craig J Thomas, Mark J Caulfield, Jennifer E Van Eyk, Daniel P Judge, Harry C Dietz, GenTAC Registry Consortium, MIBAVA Leducq Consortium
Publikováno v:
eLife, Vol 4 (2015)
Calcium channel blockers (CCBs) are prescribed to patients with Marfan syndrome for prophylaxis against aortic aneurysm progression, despite limited evidence for their efficacy and safety in the disorder. Unexpectedly, Marfan mice treated with CCBs s
Externí odkaz:
https://doaj.org/article/a98a5dac6d994587bd3e256372e985b0
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Caitlin G. Allen, Katherine Sterba, Samantha Norman, Amy Jackson, Kelly J. Hunt, Lori McMahon, Daniel P. Judge
Publikováno v:
Implementation Science Communications, Vol 4, Iss 1, Pp 1-13 (2023)
Abstract Introduction Population-wide genomic screening for CDC Tier-1 conditions offers the ability to identify the 1–2% of the US population at increased risk for Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterol
Externí odkaz:
https://doaj.org/article/453a55a949ee4cfab99ab2744b282f33
Autor:
Russell A Gould, Ravi Sinha, Hamza Aziz, Rosanne Rouf, Harry C Dietz, Daniel P Judge, Jonathan Butcher
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e44639 (2012)
Mitral valve degeneration is a key component of the pathophysiology of Marfan syndrome. The biomechanical consequences of aging and genetic mutation in mitral valves are poorly understood because of limited tools to study this in mouse models. Our ai
Externí odkaz:
https://doaj.org/article/e5facc1227d84475a775d7dc4272f791
Autor:
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis
Publikováno v:
Nucleus, Vol 14, Iss 1 (2023)
ABSTRACTSeveral related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA. Prelamin A undergoes farnesylation and additional modifications a
Externí odkaz:
https://doaj.org/article/c5bee2a67c0b43ac858a3d1638630f27
Autor:
Maicon Landim-Vieira, Aida Rahimi Kahmini, Morgan Engel, Elisa Nicole Cannon, Nuria Amat-Alarcon, Daniel P. Judge, José Renato Pinto, Stephen P. Chelko
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 13909 (2022)
Arrhythmogenic Cardiomyopathy (ACM) is a familial heart disease, characterized by contractile dysfunction, ventricular arrhythmias (VAs), and the risk of sudden cardiac death. Currently, implantable cardioverter defibrillators and antiarrhythmics are
Externí odkaz:
https://doaj.org/article/4d299d1bdea5499792c22211179bc023
Autor:
Hanyu Ni, Elizabeth Jordan, Daniel D. Kinnamon, Jinwen Cao, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W.H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Gordon S. Huggins, Ray E. Hershberger
Publikováno v:
Journal of the American College of Cardiology. 81:2059-2071