keyword
MENU ▼
Read by QxMD icon Read
search

Christine seidman

keyword
https://www.readbyqxmd.com/read/28431249/macrophages-facilitate-electrical-conduction-in-the-heart
#1
Maarten Hulsmans, Sebastian Clauss, Ling Xiao, Aaron D Aguirre, Kevin R King, Alan Hanley, William J Hucker, Eike M Wülfers, Gunnar Seemann, Gabriel Courties, Yoshiko Iwamoto, Yuan Sun, Andrej J Savol, Hendrik B Sager, Kory J Lavine, Gregory A Fishbein, Diane E Capen, Nicolas Da Silva, Lucile Miquerol, Hiroko Wakimoto, Christine E Seidman, Jonathan G Seidman, Ruslan I Sadreyev, Kamila Naxerova, Richard N Mitchell, Dennis Brown, Peter Libby, Ralph Weissleder, Filip K Swirski, Peter Kohl, Claudio Vinegoni, David J Milan, Patrick T Ellinor, Matthias Nahrendorf
Organ-specific functions of tissue-resident macrophages in the steady-state heart are unknown. Here, we show that cardiac macrophages facilitate electrical conduction through the distal atrioventricular node, where conducting cells densely intersperse with elongated macrophages expressing connexin 43. When coupled to spontaneously beating cardiomyocytes via connexin-43-containing gap junctions, cardiac macrophages have a negative resting membrane potential and depolarize in synchrony with cardiomyocytes. Conversely, macrophages render the resting membrane potential of cardiomyocytes more positive and, according to computational modeling, accelerate their repolarization...
April 20, 2017: Cell
https://www.readbyqxmd.com/read/28340351/bedside-back-to-bench-building-bridges-between-basic-and-clinical-genomic-research
#2
Teri A Manolio, Douglas M Fowler, Lea M Starita, Melissa A Haendel, Daniel G MacArthur, Leslie G Biesecker, Elizabeth Worthey, Rex L Chisholm, Eric D Green, Howard J Jacob, Howard L McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S Williams, Gregory M Cooper, Nancy J Cox, Gail E Herman, Stephen Kingsmore, Cecilia Lo, Cathleen Lutz, Calum A MacRae, Robert L Nussbaum, Jose M Ordovas, Erin M Ramos, Peter N Robinson, Wendy S Rubinstein, Christine Seidman, Barbara E Stranger, Haoyi Wang, Monte Westerfield, Carol Bult
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28296976/exome-wide-association-study-reveals-novel-susceptibility-genes-to-sporadic-dilated-cardiomyopathy
#3
Ulrike Esslinger, Sophie Garnier, Agathe Korniat, Carole Proust, Georgios Kararigas, Martina Müller-Nurasyid, Jean-Philippe Empana, Michael P Morley, Claire Perret, Klaus Stark, Alexander G Bick, Sanjay K Prasad, Jennifer Kriebel, Jin Li, Laurence Tiret, Konstantin Strauch, Declan P O'Regan, Kenneth B Marguiles, Jonathan G Seidman, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Christian Hengstenberg, Michel Komajda, Hakon Hakonarson, Richard Isnard, Eloisa Arbustini, Harald Grallert, Stuart A Cook, Christine E Seidman, Vera Regitz-Zagrosek, Thomas P Cappola, Philippe Charron, François Cambien, Eric Villard
AIMS: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. METHODS AND RESULTS: 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0...
2017: PloS One
https://www.readbyqxmd.com/read/28241245/the-burden-of-early-phenotypes-and-the-influence-of-wall-thickness-in-hypertrophic-cardiomyopathy-mutation-carriers-findings-from-the-hcmnet-study
#4
Carolyn Y Ho, Sharlene M Day, Steven D Colan, Mark W Russell, Jeffrey A Towbin, Mark V Sherrid, Charles E Canter, John L Jefferies, Anne M Murphy, Allison L Cirino, Theodore P Abraham, Matthew Taylor, Luisa Mestroni, David A Bluemke, Petr Jarolim, Ling Shi, Lynn A Sleeper, Christine E Seidman, E John Orav
Importance: Sarcomere mutations and left ventricular (LV) hypertrophy (LVH) are cardinal features of hypertrophic cardiomyopathy (HCM). However, little is known about the full spectrum of phenotypic manifestations or how LVH influences disease expression. Objectives: (1) To characterize and assess phenotypic burden in sarcomere mutation carriers (genotype positive [G+]) and (2) to investigate the correlation between LV wall thickness (LVWT) and other disease features in mutation carriers...
April 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28115490/the-long-noncoding-rna-landscape-of-the-ischemic-human-left-ventricle
#5
Louis A Saddic, Martin I Sigurdsson, Tzuu-Wang Chang, Erica Mazaika, Mahyar Heydarpour, Stanton K Shernan, Christine E Seidman, Jon G Seidman, Sary F Aranki, Simon C Body, Jochen D Muehlschlegel
BACKGROUND: The discovery of functional classes of long noncoding RNAs (lncRNAs) has expanded our understanding of the variety of RNA species that exist in cells. In the heart, lncRNAs have been implicated in the regulation of development, ischemic and dilated cardiomyopathy, and myocardial infarction. Nevertheless, there is a limited description of expression profiles for these transcripts in human subjects. METHODS AND RESULTS: We obtained left ventricular tissue from human patients undergoing cardiac surgery and used RNA sequencing to describe an lncRNA profile...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28089740/early-remodeling-of-repolarizing-k-currents-in-the-%C3%AE-mhc-403-mouse-model-of-familial-hypertrophic-cardiomyopathy
#6
Rocco Hueneke, Adam Adenwala, Rebecca L Mellor, Jonathan G Seidman, Christine E Seidman, Jeanne M Nerbonne
Familial hypertrophic cardiomyopathy (HCM), linked to mutations in myosin, myosin-binding proteins and other sarcolemmal proteins, is associated with increased risk of life threatening ventricular arrhythmias, and a number of animal models have been developed to facilitate analysis of disease progression and mechanisms. In the experiments here, we use the αMHC(403/+) mouse line in which one αMHC allele harbors a common HCM mutation (in βMHC, Arg403 Gln). Here, we demonstrate marked prolongation of QT intervals in young adult (10-12week) male αMHC(403/+) mice, well in advance of the onset of measurable left ventricular hypertrophy...
February 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28060283/preparation-of-raav9-to-overexpress-or-knockdown-genes-in-mouse-hearts
#7
Jian Ding, Zhi-Qiang Lin, Jian-Ming Jiang, Christine E Seidman, Jonathan G Seidman, William T Pu, Da-Zhi Wang
Controlling the expression or activity of specific genes through the myocardial delivery of genetic materials in murine models permits the investigation of gene functions. Their therapeutic potential in the heart can also be determined. There are limited approaches for in vivo molecular intervention in the mouse heart. Recombinant adeno-associated virus (rAAV)-based genome engineering has been utilized as an essential tool for in vivo cardiac gene manipulation. The specific advantages of this technology include high efficiency, high specificity, low genomic integration rate, minimal immunogenicity, and minimal pathogenicity...
December 17, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28009297/integrative-analysis-of-prkag2-cardiomyopathy-ips-and-microtissue-models-identifies-ampk-as-a-regulator-of-metabolism-survival-and-fibrosis
#8
J Travis Hinson, Anant Chopra, Andre Lowe, Calvin C Sheng, Rajat M Gupta, Rajarajan Kuppusamy, John O'Sullivan, Glenn Rowe, Hiroko Wakimoto, Joshua Gorham, Kehan Zhang, Kiran Musunuru, Robert E Gerszten, Sean M Wu, Christopher S Chen, Jonathan G Seidman, Christine E Seidman
AMP-activated protein kinase (AMPK) is a metabolic enzyme that can be activated by nutrient stress or genetic mutations. Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation, and ventricular pre-excitation. Using human iPS cell models combined with three-dimensional cardiac microtissues, we show that activating PRKAG2 mutations increase microtissue twitch force by enhancing myocyte survival. Integrating RNA sequencing with metabolomics, PRKAG2 mutations that activate AMPK remodeled global metabolism by regulating RNA transcripts to favor glycogen storage and oxidative metabolism instead of glycolysis...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28007147/clinical-and-mechanistic-insights-into-the%C3%A2-genetics-of-cardiomyopathy
#9
REVIEW
Michael A Burke, Stuart A Cook, Jonathan G Seidman, Christine E Seidman
Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy...
December 27, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27924694/dimensions-of-activity-in-countertransference-and-therapist-reactions-therapist-reactions-during-sessions-with-depressed-patients
#10
Felicitas Datz, Karoline Parth, Christine Rohm, Simon Madanoglu, Charles Seidman, Henriette Löffler-Stastka
OBJECTIVES: This paper presents the interaction structure between the therapist's countertransference and the patient's affect based on identified dimensions of how therapists feel and react during sessions with depressed patients. METHODS: 639 sessions were audio-recorded and rated by trained raters. These recordings were obtained from the Munich Psychotherapy Study and analyzed with the PQS, the AREQ, and the TRQ/CTQ. RESULTS: Seven components with good to excellent internal consistency (Cronbach α = ...
December 2016: Zeitschrift Für Psychosomatische Medizin und Psychotherapie
https://www.readbyqxmd.com/read/27895300/thsd1-thrombospondin-type-1-domain-containing-protein-1-mutation-in-the-pathogenesis-of-intracranial-aneurysm-and-subarachnoid-hemorrhage
#11
Teresa Santiago-Sim, Xiaoqian Fang, Morgan L Hennessy, Stephen V Nalbach, Steven R DePalma, Ming Sum Lee, Steven C Greenway, Barbara McDonough, Georgene W Hergenroeder, Kyla J Patek, Sarah M Colosimo, Krista J Qualmann, John P Hagan, Dianna M Milewicz, Calum A MacRae, Susan M Dymecki, Christine E Seidman, J G Seidman, Dong H Kim
BACKGROUND AND PURPOSE: A ruptured intracranial aneurysm (IA) is the leading cause of a subarachnoid hemorrhage. This study seeks to define a specific gene whose mutation leads to disease. METHODS: More than 500 IA probands and 100 affected families were enrolled and clinically characterized. Whole exome sequencing was performed on a large family, revealing a segregating THSD1 (thrombospondin type 1 domain containing protein 1) mutation. THSD1 was sequenced in other probands and controls...
December 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27869827/titin-truncating-variants-affect-heart-function-in-disease-cohorts-and-the-general-population
#12
Sebastian Schafer, Antonio de Marvao, Eleonora Adami, Lorna R Fiedler, Benjamin Ng, Ester Khin, Owen J L Rackham, Sebastiaan van Heesch, Chee J Pua, Miao Kui, Roddy Walsh, Upasana Tayal, Sanjay K Prasad, Timothy J W Dawes, Nicole S J Ko, David Sim, Laura L H Chan, Calvin W L Chin, Francesco Mazzarotto, Paul J Barton, Franziska Kreuchwig, Dominique P V de Kleijn, Teresa Totman, Carlo Biffi, Nicole Tee, Daniel Rueckert, Valentin Schneider, Allison Faber, Vera Regitz-Zagrosek, Jonathan G Seidman, Christine E Seidman, Wolfgang A Linke, Jean-Paul Kovalik, Declan O'Regan, James S Ware, Norbert Hubner, Stuart A Cook
Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in humans and studied rat models with disparate TTNtv. In patients with DCM, TTNtv throughout titin were significantly associated with DCM. Ribosomal profiling in rat showed the translational footprint of premature stop codons in Ttn, TTNtv-position-independent nonsense-mediated degradation of the mutant allele and a signature of perturbed cardiac metabolism...
January 2017: Nature Genetics
https://www.readbyqxmd.com/read/27831900/aggregate-penetrance-of-genomic-variants-for-actionable-disorders-in-european-and-african-americans
#13
Pradeep Natarajan, Nina B Gold, Alexander G Bick, Heather McLaughlin, Peter Kraft, Heidi L Rehm, Gina M Peloso, James G Wilson, Adolfo Correa, Jonathan G Seidman, Christine E Seidman, Sekar Kathiresan, Robert C Green
In populations that have not been selected for family history of disease, it is unclear how commonly pathogenic variants (PVs) in disease-associated genes for rare Mendelian conditions are found and how often they are associated with clinical features of these conditions. We conducted independent, prospective analyses of participants in two community-based epidemiological studies to test the hypothesis that persons carrying PVs in any of 56 genes that lead to 24 dominantly inherited, actionable conditions are more likely to exhibit the clinical features of the corresponding diseases than those without PVs...
November 9, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27806233/fulminant-myocarditis-with-combination-immune-checkpoint-blockade
#14
Douglas B Johnson, Justin M Balko, Margaret L Compton, Spyridon Chalkias, Joshua Gorham, Yaomin Xu, Mellissa Hicks, Igor Puzanov, Matthew R Alexander, Tyler L Bloomer, Jason R Becker, David A Slosky, Elizabeth J Phillips, Mark A Pilkinton, Laura Craig-Owens, Nina Kola, Gregory Plautz, Daniel S Reshef, Jonathan S Deutsch, Raquel P Deering, Benjamin A Olenchock, Andrew H Lichtman, Dan M Roden, Christine E Seidman, Igor J Koralnik, Jonathan G Seidman, Robert D Hoffman, Janis M Taube, Luis A Diaz, Robert A Anders, Jeffrey A Sosman, Javid J Moslehi
Immune checkpoint inhibitors have improved clinical outcomes associated with numerous cancers, but high-grade, immune-related adverse events can occur, particularly with combination immunotherapy. We report the cases of two patients with melanoma in whom fatal myocarditis developed after treatment with ipilimumab and nivolumab. In both patients, there was development of myositis with rhabdomyolysis, early progressive and refractory cardiac electrical instability, and myocarditis with a robust presence of T-cell and macrophage infiltrates...
November 3, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27670201/loss-of-rna-expression-and-allele-specific-expression-associated-with-congenital-heart-disease
#15
David M McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R DePalma, James S Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P Lifton, Wendy K Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J Sharp, Christine E Seidman, Bruce D Gelb, J G Seidman
Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects...
September 27, 2016: Nature Communications
https://www.readbyqxmd.com/read/27582060/pitx2-modulates-a-tbx5-dependent-gene-regulatory-network-to-maintain-atrial-rhythm
#16
Rangarajan D Nadadur, Michael T Broman, Bastiaan Boukens, Stefan R Mazurek, Xinan Yang, Malou van den Boogaard, Jenna Bekeny, Margaret Gadek, Tarsha Ward, Min Zhang, Yun Qiao, James F Martin, Christine E Seidman, Jon Seidman, Vincent Christoffels, Igor R Efimov, Elizabeth M McNally, Christopher R Weber, Ivan P Moskowitz
Cardiac rhythm is extremely robust, generating 2 billion contraction cycles during the average human life span. Transcriptional control of cardiac rhythm is poorly understood. We found that removal of the transcription factor gene Tbx5 from the adult mouse caused primary spontaneous and sustained atrial fibrillation (AF). Atrial cardiomyocytes from the Tbx5-mutant mice exhibited action potential abnormalities, including spontaneous depolarizations, which were rescued by chelating free calcium. We identified a multitiered transcriptional network that linked seven previously defined AF risk loci: TBX5 directly activated PITX2, and TBX5 and PITX2 antagonistically regulated membrane effector genes Scn5a, Gja1, Ryr2, Dsp, and Atp2a2 In addition, reduced Tbx5 dose by adult-specific haploinsufficiency caused decreased target gene expression, myocardial automaticity, and AF inducibility, which were all rescued by Pitx2 haploinsufficiency in mice...
August 31, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27505173/transcriptional-profiling-of-cultured-embryonic-epicardial-cells-identifies-novel-genes-and-signaling-pathways-regulated-by-tgf%C3%AE-r3-in-vitro
#17
Daniel M DeLaughter, Cynthia R Clark, Danos C Christodoulou, Christine E Seidman, H Scott Baldwin, J G Seidman, Joey V Barnett
The epicardium plays an important role in coronary vessel formation and Tgfbr3-/- mice exhibit failed coronary vessel development associated with decreased epicardial cell invasion. Immortalized Tgfbr3-/- epicardial cells display the same defects. Tgfbr3+/+ and Tgfbr3-/- cells incubated for 72 hours with VEH or ligands known to promote invasion via TGFβR3 (TGFβ1, TGFβ2, BMP2), for 72 hours were harvested for RNA-seq analysis. We selected for genes >2-fold differentially expressed between Tgfbr3+/+ and Tgfbr3-/- cells when incubated with VEH (604), TGFβ1 (515), TGFβ2 (553), or BMP2 (632)...
2016: PloS One
https://www.readbyqxmd.com/read/27366888/detection-of-cell-proliferation-markers-by-immunofluorescence-staining-and-microscopy-imaging-in-paraffin-embedded-tissue-sections
#18
Seda Eminaga, Polakit Teekakirikul, Christine E Seidman, Jonathan G Seidman
This unit describes a step-by-step protocol to detect and quantify proliferating cells in paraffin-embedded tissue sections. Two well-established markers of proliferation (incorporation of BrdU into newly synthesized DNA and expression of the nuclear protein Ki67) are detected after antigen-retrieval and subsequent immunofluorescence staining and confocal microscopy. © 2016 by John Wiley & Sons, Inc.
July 1, 2016: Current Protocols in Molecular Biology
https://www.readbyqxmd.com/read/27239561/molecular-profiling-of-dilated-cardiomyopathy-that-progresses-to-heart-failure
#19
Michael A Burke, Stephen Chang, Hiroko Wakimoto, Joshua M Gorham, David A Conner, Danos C Christodoulou, Michael G Parfenov, Steve R DePalma, Seda Eminaga, Tetsuo Konno, Jonathan G Seidman, Christine E Seidman
Dilated cardiomyopathy (DCM) is defined by progressive functional and structural changes. We performed RNA-seq at different stages of disease to define molecular signaling in the progression from pre-DCM hearts to DCM and overt heart failure (HF) using a genetic model of DCM (phospholamban missense mutation, PLN(R9C/+)). Pre-DCM hearts were phenotypically normal yet displayed proliferation of nonmyocytes (59% relative increase vs. WT, P = 8 × 10(-4)) and activation of proinflammatory signaling with notable cardiomyocyte-specific induction of a subset of profibrotic cytokines including TGFβ2 and TGFβ3...
May 5, 2016: JCI Insight
https://www.readbyqxmd.com/read/27189347/corrigendum-mutation-analysis-of-the-phospholamban-gene-in-315-south-africans-with-dilated-hypertrophic-peripartum-and-arrhythmogenic-right-ventricular-cardiomyopathies
#20
Maryam Fish, Gasnat Shaboodien, Sarah Kraus, Karen Sliwa, Christine E Seidman, Michael A Burke, Lia Crotti, Peter J Schwartz, Bongani M Mayosi
No abstract text is available yet for this article.
2016: Scientific Reports
keyword
keyword
105074
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"