Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Gabriel Caceres"'
1
Akademický článek
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Autor: Yang Liu, Rong Bai, Lin Wang, Cuntai Zhang, Ruifu Zhao, Deli Wan, Xinshan Chen, Gabriel Caceres, Daniel Barr, Hector Barajas-Martinez, Charles Antzelevitch, Dan Hu
Publikováno v: PLoS ONE, Vol 8, Iss 5, p e64603 (2013)
The major structure elements of the AMP-activated protein kinase (AMPK) are α, β, and γ sunbunits. Mutations in γ2 subunit (PRKAG2) have been associated with a cardiac syndrome including inherited ventricular preexcitation, conduction disorder an
Externí odkaz: https://doaj.org/article/cf5b0752f52c4fef819bdba4a452870e
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4
Akademický článek
Edge-to-edge topological spectral transfer in diamond photonic lattices
Autor: Gabriel Cáceres-Aravena, Bastián Real, Diego Guzmán-Silva, Paloma Vildoso, Ignacio Salinas, Alberto Amo, Tomoki Ozawa, Rodrigo A. Vicencio
Publikováno v: APL Photonics, Vol 8, Iss 8, Pp 080801-080801-6 (2023)
The transfer of information between topological edge states is a robust way of spatially manipulating spatial states in lattice environments. This method is particularly efficient when the edge modes are kept within the topological gap of the lattice
Externí odkaz: https://doaj.org/article/07b6c2f9990f4afd86042a88f515e8cb
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5
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect
Autor: Gabriel Caceres, Dan Hu, Christian Wolpert, Hector Barajas-Martinez, Charles Antzelevitch, Ryan Pfeiffer, Rainer Schimpf, Elena Burashnikov, Martin Borggrefe, Christian Veltmann
Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Phenotypic overlap of type 3 long QT syndrome ( LQT 3), Brugada syndrome (BrS), cardiac conduction disease ( CCD ), and sinus node dysfunction ( SND ) is observed with SCN 5A mutations. SCN 5A ‐E1784K is the most common mutation associat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3c8e4704a20d378c13b7a5f6c96d60
https://doi.org/10.1161/jaha.116.003379
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7
LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current
Autor: Gabriel Caceres, Eyal Nof, Charles Antzelevitch, Micha S. Feinberg, Hector Barajas-Martinez, Gail F. Rosenfeld, Dan Hu, Oscar Casis, Michael Eldar, Michael Glikson, David Bar-Lev, Janire Urrutia, Elena Burashnikov
Publikováno v: Europace. 13:1478-1483
Aims KCNE1 encodes an auxiliary subunit of cardiac potassium channels. Loss-of-function variations in this gene have been associated with the LQT5 form of the long QT syndrome (LQTS), secondary to reduction of I Ks current. We present a case in which
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd354835f79094df49cc481fa199cde
https://doi.org/10.1093/europace/eur184
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8
Biophysical and Molecular Characterization of a Novel De Novo KCNJ2 Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry
Autor: Hector Barajas-Martinez, Dan Hu, Gabriel Caceres, Charles Antzelevitch, Elena Burashnikov, Mayurika Desai, Gustavo Ontiveros, Jorge Scaglione
Publikováno v: Circulation: Cardiovascular Genetics. 4:51-57
Background— Mutations in KCNJ2 , the gene encoding the human inward rectifier potassium channel Kir2.1 (I K1 or I Kir2.1 ), have been identified in Andersen-Tawil syndrome. Andersen-Tawil syndrome is a multisystem inherited disease exhibiting perio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b155e87c56f443ff97b0b5540b1b00e2
https://doi.org/10.1161/circgenetics.110.957696
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9
A Common Single Nucleotide Polymorphism Can Exacerbate Long-QT Type 2 Syndrome Leading to Sudden Infant Death
Autor: Charles Antzelevitch, Moshe Gunsburg, Guillermo J. Pérez, Kirstine Calloe, Fabiana S. Scornik, Elena Burashnikov, Jonathan M. Cordeiro, Gabriel Caceres, Eyal Nof, Barry Love
Publikováno v: Circulation: Cardiovascular Genetics. 3:199-206
Background— Identification of infants at risk for sudden arrhythmic death remains one of the leading challenges of modern medicine. We present a family in which a common polymorphism (single nucleotide polymorphism) inherited from the father, combi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff84cc1ffd26de3b2d16926558d0b7e
https://doi.org/10.1161/circgenetics.109.898569
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10
P139 False homozygosity observed for one sample’s HLA genotyping on two independent next generation sequencing platforms
Autor: Jenefer DeKoning, Meagan Barner, Zahra Kashi, RaeAnna M. Neville, Russell Martin, Gabriel Caceres
Publikováno v: Human Immunology. 77:139
Aim Next generation sequencing (NGS) was performed on a patient sample to genotype the HLA-DRB1 locus (exons 2 and 3) using both the Ion Torrent PGM and Illumina MiSeq platforms. The sample typed as HLA-DRB1 ∗ 07:01:01 homozygous on both platforms
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f6753cf533851f5132619cc43588a36
https://doi.org/10.1016/j.humimm.2016.07.204
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