Results 171 to 180 of about 254,836 (309)

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

Benchmarking copy number variation detection with low-coverage whole-genome sequencing. [PDF]

Brief Bioinform
Wang N, Tao ZY, Wu T, Wang J, Wang W, Shi H, Liu XS.   +6 more
europepmc   +1 more source

Numbat-multiome: inferring copy number variations by combining RNA and chromatin accessibility information from single-cell data [PDF]

Ruitong Li, Jean-Baptiste Alberge, Tina Keshavarzian, Junko Tsuji, Johan E. Gustafsson, Mahshid Rahmat, Elizabeth D. Lightbody, Stephanie Deng, Santiago Riviero, Mendy Miller, F Naz Cemre Kalayci, Adrian Wiestner, Clare Sun, Mathieu Lupien, Irene M. Ghobrial, Erin M. Parry, Teng Gao, Gad Getz   +17 more
openalex   +1 more source

EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data [PDF]

, 2019
Zhongyang Zhang, Haoxiang Cheng, Xiumei Hong, Antonio Fabio Di Narzo, Oscar Franzén, Shouneng Peng, Arno Ruusalepp, Jason C. Kovacic, Johan Björkegren, Xiaobin Wang, Ke Hao   +10 more
openalex   +1 more source

Mycobacterial cell division arrest and smooth‐to‐rough envelope transition using CRISPRi‐mediated genetic repression systems

FEBS Open Bio, EarlyView.
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point, Wafaa Achache, Janïs Laudouze, Eliana Sepulveda Ramos, Mickaël Maziero, Céline Crauste, Stéphane Canaan, Pierre Santucci   +7 more
wiley   +1 more source

Assessing the Detection Power of Genome-Wide Copy Number Variation Profiles in Prostate Cancer Using Simulated Shallow Whole-Genome Sequencing Data. [PDF]

JCO Clin Cancer Inform
Pamidimarri Naga S, Slootbeek PHJ, Tolmeijer SH, Gillissen C, Ligtenberg MJL, Mehra N, de Voer RM.   +6 more
europepmc   +1 more source

The Orphan Gene dauerless Regulates Dauer Development and Intraspecific Competition in Nematodes by Copy Number Variation

, 2015
M. Mayer, Christian Rödelsperger, Hanh Witte, Metta Riebesell, Ralf J. Sommer   +4 more
openalex   +2 more sources

In VitroModeling of the Bipolar Disorder and Schizophrenia Using Patient-Derived Induced Pluripotent Stem Cells with Copy Number Variations ofPCDH15 andRELN [PDF]

, 2019
Takaya Ishii, Mitsuru Ishikawa, Koki Fujimori, Takuji Maeda, Itaru Kushima, Yuko Arioka, Daisuke Mori, Yuhki Nakatake, Bun Yamagata, Shintaro Nio, Takahiro A. Kato, Nan Yang, Marius Wernig, Shigenobu Kanba, Masaru Mimura, Norio Ozaki, Hideyuki Okano   +16 more
openalex   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

rDNA copy number variation and methylation from birth to sexual maturity. [PDF]

Aging (Albany NY)
Michler A, Kießling S, Durackova J, Potabattula R, Koparir A, Haaf T.   +5 more
europepmc   +1 more source