Results 11 to 20 of about 563 (109)

Increased expression of fatty-acid and calcium metabolism genes in failing human heart. [PDF]

PLoS ONE, 2012
BackgroundHeart failure (HF) involves alterations in metabolism, but little is known about cardiomyopathy-(CM)-specific or diabetes-independent alterations in gene expression of proteins involved in fatty-acid (FA) uptake and oxidation or in calcium-(Ca ...
Vanessa García-Rúa, Manuel Francisco Otero, Pamela Virginia Lear, Diego Rodríguez-Penas, Sandra Feijóo-Bandín, Teresa Noguera-Moreno, Manuel Calaza, María Álvarez-Barredo, Ana Mosquera-Leal, John Parrington, Josep Brugada, Manuel Portolés, Miguel Rivera, José Ramón González-Juanatey, Francisca Lago   +14 more
doaj   +4 more sources

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. [PDF]

Cell Genom, 2023
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS).
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW.   +60 more
europepmc   +11 more sources

Identification of 4 autophagy-related genes in heart failure by bioinformatics analysis and machine learning [PDF]

Frontiers in Cardiovascular Medicine
IntroductionAutophagy refers to the process of breaking down and recycling damaged or unnecessary components within a cell to maintain cellular homeostasis.
Xiwei Deng, Xiwei Deng, Xiwei Deng, Ziqi Yang, Ziqi Yang, Tongzheng Li, Yang Wang, Qinchuan Yang, Rui An, Rui An, Jian Xu, Jian Xu   +11 more
doaj   +2 more sources

Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population [PDF]

Saudi Pharmaceutical Journal
Background: Although national efforts are underway to document the genomic variability of the Saudi population relative to other populations, such variability remains largely unexplored.
Lama Binobaid, Homood M. As Sobeai, Khalid Alhazzani, Lama AlAbdi, Meshari M. Alwazae, Moureq Alotaibi, John Parrington, Ali Alhoshani   +7 more
doaj   +2 more sources

Structural variation detection and association analysis of whole-genome-sequence data from 16,543 Alzheimer's disease sequencing project subjects. [PDF]

Alzheimers Dement
Abstract INTRODUCTION The role of structural variations (SVs) in Alzheimer's disease (AD) remains understudied. METHODS We analyzed whole‐genome sequencing data from the Alzheimer's Disease Sequencing Project (N = 16,543) and identified 400,234 (168,223 high‐quality) SVs.
Wang H, Dombroski BA, Cheng PL, Tucci A, Si YQ, Farrell JJ, Tzeng JY, Leung YY, Malamon JS, Alzheimer's Disease Sequencing Project, Wang LS, Vardarajan BN, Farrer LA, Schellenberg GD, Lee WP.   +14 more
europepmc   +2 more sources

The role of common structural variants in Alzheimer’s disease [PDF]

Alzheimers Dement
Abstract Background Structural variants (SVs), genomic alterations exceeding 50 base‐pairs, are known for their significant impact on disease pathology. However, the role of SVs in Alzheimer’s Disease (AD) remains unclear. Using a novel high‐accuracy SV calling pipeline, we analyzed a diverse sample from the Alzheimer’s Disease Sequencing Project (ADSP)
Lee S, Xia R, English A, Peloso G, Bis J, Lin H, Choi S, Heard‐Costa N, DeStefano A, Sedlazeck F, Fornage M.   +10 more
europepmc   +2 more sources

Genetic factors modify the effect of chronic viral infections on Alzheimer disease risk [PDF]

Alzheimers Dement
Abstract Background Several viruses have been linked to Alzheimer disease (AD) by independent lines of evidence. Method Whole genome and whole exome sequences (WGS/WES) derived from brain (3,404 AD cases, 894 controls) and blood (15,612 AD cases, 24,544 controls) obtained from European ancestry (EU), African American (AA), Mexican (HMX), South Asian ...
Tejeda M, Farrell J, Zhu C, Wetzler L, Lunetta K, Bush W, Martin E, Wang L, Schellenberg G, Pericak‐Vance M, Haines J, Farrer L, Sherva R.   +12 more
europepmc   +2 more sources

Bladder under stress: Pathological and adaptive shifts in channel expression

Channels
Membrane channels are central to bladder function, yet current understanding is shaped disproportionately by a few well-studied families such as TRPA1 and TRPV1. To provide a more balanced view, this review analyzed emerging human transcriptomic datasets
Karl Swärd, Karl-Erik Andersson, Bengt Uvelius   +2 more
doaj   +2 more sources

Study of the roles of two pore channels (TPCs) in metabolism [PDF]

, 2023
Second messengers play roles in communication between and within cells and are critical in various physiological functions at cellular level. As an important second messenger, Ca2+, through spatiotemporal changes in its cytosolic concentration in the ...
Zhang, Yuxuan
core   +1 more source

Genome-Wide RNAi Screen Identifies Regulators of Cardiomyocyte Necrosis [PDF]

, 2019
Regulation of cellular death is central to nearly all physiological routines and is dysregulated in virtually all diseases. Cell death occurs by two major processes, necrosis which culminates in a pervasive inflammatory response and apoptosis which is ...
Christopher P. Mack (7388732), Joan M. Taylor (7388735), Matthew Combs (3191752), Joel Parker (17174), Qiang Zhu (188733), Zhaokang Cheng (3442565), Peng Xia (70027), Zachary Opheim (7388729)   +7 more
core   +5 more sources