Results 31 to 40 of about 660,576 (241)

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto, Tonon C, Caporali L, NASSETTI, STEFANIA-ALESSANDRA, Daniela Brunetto, Nassetti, Stefania, Raffaele Lodi, Tonon, Caterina, Francesco Toni, Stipa C, Carelli V., D. Brunetto, Antonio Torroni, A. Torroni, Caterina Tonon, Leonardo Caporali, F. Gandini, Chiara La Morgia, Toni, Francesco, Toni F, Nassetti S, Lodi R, Brunetto D, Anna Olivieri, Francesca Gandini, La Morgia C, Brunetto, Daniela, Parmeggiani, Antonia, Carlotta Stipa, Gandini, Francesca, Scaduto C, C. Scaduto, Stefania Nassetti, Valerio Carelli, Stipa, Carlotta, Carelli, Valerio, Scaduto, Cristina, Lodi, Raffaele, La Morgia, Chiara, Antonia Parmeggiani, Caporali, Leonardo, Torroni, Antonio, Olivieri, Anna, A. Olivieri, Parmeggiani A   +44 more
core   +2 more sources

The distribution of fitness effects among synonymous mutations in a gene under directional selection

eLife, 2019
The fitness effects of synonymous mutations, nucleotide changes that do not alter the encoded amino acid, have often been assumed to be neutral, but a growing body of evidence suggests otherwise.
Eleonore Lebeuf-Taylor, Nick McCloskey, Susan F Bailey, Aaron Hinz, Rees Kassen   +4 more
doaj   +1 more source

The effect of multiple evolutionary selections on synonymous codon usage of genes in the Mycoplasma bovis genome. [PDF]

PLoS ONE, 2014
Mycoplasma bovis is a major pathogen causing arthritis, respiratory disease and mastitis in cattle. A better understanding of its genetic features and evolution might represent evidences of surviving host environments.
Jian-hua Zhou, Yao-zhong Ding, Ying He, Yue-feng Chu, Ping Zhao, Li-ya Ma, Xin-jun Wang, Xue-rui Li, Yong-sheng Liu   +8 more
doaj   +1 more source

Unexpected correlations between gene expression and codon usage bias from microarray data for the whole Escherichia coli K-12 genome [PDF]

, 2003
Escherichia coli has long been regarded as a model organism in the study of codon usage bias (CUB). However, most studies in this organism regarding this topic have been computational or, when experimental, restricted to small datasets; particularly poor
Savva, Renos, Wernisch, Lorenz, dos Reis, M.   +2 more
core   +1 more source

c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Hepatology, EarlyView., 2022
In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie, Jill E. Hunter, Amy Collins, Amelia Rushton, Lauren G. Russell, Erik Ramon‐Gil, Maja Laszczewska, Misti McCain, Marco Y. W. Zaki, Amber Knox, Yixin Seow, Laura Sabater, Daniel Geh, Neil D. Perkins, Helen L. Reeves, Dina Tiniakos, Derek A. Mann, Fiona Oakley   +17 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Synonymous mutations in TLR2 and TLR9 genes decrease COPD susceptibility in the Chinese Han population

Pulmonology
Introduction Previous studies have found associations between polymorphisms in some candidate genes and chronic obstructive pulmonary disease (COPD) risk.
X. Ding, Q. Lin, J. Zhao, Y. Fu, Y. Zheng, R. Mo, L. Zhang, B. Zhang, J. Chen, T. Xie, H. Wu, Y. Ding   +11 more
doaj   +1 more source

Organic Materials of Tomorrow: Horizons of Artificial Intelligence

Advanced Materials, EarlyView.
This review examines machine learning techniques accelerating the discovery of organic semiconductors by linking molecular structure to properties. Key methods include graph neural networks, generative models, and active learning. Applications to organic photovoltaics demonstrate practical impact.
Harold Mena, J. Terence Blaskovits, Kun‐Han Lin, Denis Andrienko   +3 more
wiley   +1 more source

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency. [PDF]

PLoS Genetics, 2018
Synonymous mutations continue to be filtered out from most large-scale cancer genome studies, but several lines of evidence suggest they can play driver roles in neoplastic disease.
Valeria Pecce, Marialuisa Sponziello, Giuseppe Damante, Francesca Rosignolo, Cosimo Durante, Livia Lamartina, Giorgio Grani, Diego Russo, Cira Rosaria di Gioia, Sebastiano Filetti, Antonella Verrienti   +10 more
doaj   +1 more source

Dual Role of Tamoxifen in Enhancing STING and CEACAM1 Expression to Prime a Favorable Tumor Microenvironment for Anti‐TIM3 Immunotherapy

Advanced Science, EarlyView.
Anti‐PD‐1/PD‐L1 blockade has revolutionized cancer immunotherapy, but is ineffective against endocrine‐treated (i.e., Tamoxifen), relapsed ER+ breast cancer (BC) patients. This study provides insight into the sub‐optimal response of ER+BCs to anti‐PD‐1/PD‐L1 blockade – highlighting the induction of STING and the CEACAM1/TIM3 axis after chronic ...
Marvin Angelo E Aberin, Saurabh Singh, Soumya Chatterjee, Guang‐Zhi Sui, Yi‐Fu Wang, Ya‐Ting Lu, Yu‐Ling Lee, Kun‐Yuan Lin, Joy Khag, Ta‐Yu Liu, Shao‐Han Chang, Wai‐Mui Cheung, Hsiao‐Chin Hong, Ren‐Jun Hsu, Chen‐Yang Shen, Chia‐Wei Li, Weng‐Lang Yang, Yao‐Ming Chang, Shih‐Yu Chen, Chandan Guha, Shu‐Ping Wang   +20 more
wiley   +1 more source