Results 141 to 150 of about 260,139 (315)

Chronic Disease Monitoring Using Advanced Compliant Materials for Bioelectronics

Advanced Electronic Materials, EarlyView.
Compliant bioelectronic systems enable continuous monitoring of chronic disease through soft, stretchable materials and tissue‐conformal designs that support stable electrophysiological, mechanical, and biochemical sensing. Integration of diverse sensing modalities with thoughtful material selection, device architectures, and advanced fabrication ...
Han Kim, Mabel Bartlett, Liyang Wang, Karl Bates, Mengdi He, Myungbo Kim, Carmel Majidi, Tzahi Cohen‐Karni   +7 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Green Fluorescent Protein (GFP) color reporter gene visualizes parvovirus B19 Non-structural Segment 1 (NS1) transfected endothelial modification

, 2012
Background: Human Parvovirus B19 (PVB19) has been associated with myocarditis putative due to endothelial infection. Whether PVB19 infects endothelial cells and causes a modification of endothelial function and inflammation and, thus, disturbance of ...
Seizer, Peter, Seizer Peter, Paul, Angela, Thomas Wurster, Botnar Rene M., Schönberger, Tanja, Stellos, Konstantinos L., Gawaz, Meinrad Paul, Tanja Schönberger, Gawaz Meinrad, Schuster Andreas, Gawaz, Meinrad, Botnar, Rene M.; id_orcid, Stellos, Konstantinos, Paul Angela, Boris Bigalke, Stellos Konstantinos, Pölzelbauer Catharina, Schönberger Tanja, Poelzelbauer, Catharina, Wurster, Thomas Heinrich, Angela Paul, Konstantinos Stellos, Meinrad Gawaz, Bigalke, Boris, Bigalke Boris, Botnar, Rene Michael, Rene M Botnar, Andreas Schuster, Wurster Thomas, Peter Seizer, Schuster, Andreas, Wurster, Thomas, Schoenberger, Tanja, Pölzelbauer, Catharina, Catharina Pölzelbauer   +35 more
core   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Diastolic And Systolic Right Ventricular Dysfunction Precedes Left Ventricular Dysfunction In Patients Paced From Right Ventricular Apex

, 2006
Background: Cardiac dysfunction after right ventricular (RV) apical pacing is well known but its extent, time frame of appearance and individual effect on left ventricular (LV), RV systolic and diastolic parameters has not evaluated in a systematic ...
Bansal, Sandeep, VK, Puri, SK, Dwivedi, RK, Saran, VS, Narain, Puri, Aniket, M, Hasan, MK, Makharia   +7 more
core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

TGF-β1 Is Associated with Left Ventricular Dysfunction

Current Issues in Molecular Biology
There are many contradictory opinions, and the role of TGF-β1 in the vascular effects of atherosclerosis remains unclear. This study aims to verify whether plasma TGF-β1 concentrations are correlated with changes in echocardiographic and vascular parameters in individuals with early coronary artery disease (CAD), including those with type 2 diabetes ...
Bartosz Rakoczy, Michal Rac, Andrzej Krzystolik, Violetta Dziedziejko, Krzysztof Safranow, John Omede, Monika Rac   +6 more
openaire   +2 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Valsartan in the treatment of heart failure or left ventricular dysfunction after myocardial infarction

, 2007
Naylin Bissessor1, Harvey White21Cardiology Research Fellow, 2Director of Coronary Care and Green Lane, Cardiovascular Research Unit, Green Lane Cardiovascular Research Unit, Auckland City Hospital, Auckland, New ZealandAbstract: The physiological role ...
Naylin Bissessor, Harvey White
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source