Results 1 to 10 of about 462,443 (296)

Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome

Frontiers in Endocrinology, 2023
IntroductionAicardi-Goutières Syndrome (AGS) is a rare encephalopathy with early onset that can be transmitted in both dominant and recessive forms. Its phenotypic covers a wide range of neurological and extraneurological symptoms.
Francesca Dragoni, Francesca Dragoni, Jessica Garau, Simona Orcesi, Simona Orcesi, Costanza Varesio, Costanza Varesio, Matteo Bordoni, Eveljn Scarian, Eveljn Scarian, Rosalinda Di Gerlando, Rosalinda Di Gerlando, Elisa Fazzi, Elisa Fazzi, Roberta Battini, Roberta Battini, Altea Gjurgjaj, Bartolo Rizzo, Orietta Pansarasa, Stella Gagliardi   +19 more
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Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

HGG Advances, 2022
Summary: Copy-number variations (CNV) are believed to play an important role in a wide range of complex traits, but discovering such associations remains challenging.
Maarja Lepamets, Chiara Auwerx, Margit Nõukas, Annique Claringbould, Eleonora Porcu, Mart Kals, Tuuli Jürgenson, Andrew Paul Morris, Urmo Võsa, Murielle Bochud, Silvia Stringhini, Cisca Wijmenga, Lude Franke, Hedi Peterson, Jaak Vilo, Kaido Lepik, Reedik Mägi, Zoltán Kutalik   +17 more
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Changes in Higher-Order Chromosomal Structure of Klebsiella pneumoniae Under Simulated Microgravity

Frontiers in Microbiology, 2022
Our previous work have shown that certain subpopulations of Klebsiella pneumoniae exhibit significant phenotypic changes under simulated microgravity (SMG), including enhanced biofilm formation and cellulose synthesis, which may be evoked by changes in ...
Yahao Wang, Wenlong Shen, Man Yin, Wenhua Huang, Bingyu Ye, Ping Li, Shu Shi, Ge Bai, Xinjie Guo, Yifei Jin, Kailin Lin, Yan Zhang, Yongqiang Jiang, Junfeng Wang, Yanping Han, Zhihu Zhao   +15 more
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DNA Methylation of PGC-1α Is Associated With Elevated mtDNA Copy Number and Altered Urinary Metabolites in Autism Spectrum Disorder

Frontiers in Cell and Developmental Biology, 2021
Autism spectrum disorder (ASD) is a complex disorder that is underpinned by numerous dysregulated biological pathways, including pathways that affect mitochondrial function. Epigenetic mechanisms contribute to this dysregulation and DNA methylation is an
Sophia Bam, Erin Buchanan, Caitlyn Mahony, Colleen O’Ryan   +3 more
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The Landscape of Iron Metabolism-Related and Methylated Genes in the Prognosis Prediction of Clear Cell Renal Cell Carcinoma

Frontiers in Oncology, 2020
Background: Clear cell renal cell carcinoma (ccRCC) is characteristics of resistance to chemotherapy and radiotherapy. The prognosis of ccRCC was dismay with immense diversity. Iron metabolism disturbance is a common phenomenon in ccRCC.
Yanhua Mou, Yanhua Mou, Yao Zhang, Jinchun Wu, Busheng Hu, Chunfang Zhang, Chaojun Duan, Chaojun Duan, Bin Li, Bin Li   +9 more
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Current Advances in N6-Methyladenosine Methylation Modification During Bladder Cancer

Frontiers in Genetics, 2022
N6-methyladenosine (m6A) is a dynamic, reversible post-transcriptional modification, and the most common internal modification of eukaryotic messenger RNA (mRNA).
Qiang Liu
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Pharmacokinetic study of a novel oral formulation of S-adenosylmethionine (MSI-195) in healthy subjects: dose escalation, food effect and comparison to a commercial nutritional supplement product

BMC Pharmacology and Toxicology, 2020
Background A novel, high bioavailability oral, enteric coated tablet formulation of S-adenosylmethionine (MSI-195) has been developed for life science application.
Beth R. Cameron, Ludvina Ferreira, I. David MacDonald   +2 more
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Research Progress on Epigenetics of Diabetic Cardiomyopathy in Type 2 Diabetes

Frontiers in Cell and Developmental Biology, 2021
Diabetic cardiomyopathy (DCM) is characterized by diastolic relaxation abnormalities in its initial stages and by clinical heart failure (HF) without dyslipidemia, hypertension, and coronary artery disease in its last stages.
Jianxin Deng, Yunxiu Liao, Jianpin Liu, Wenjuan Liu, Dewen Yan   +4 more
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Effect of Methylation Status of lncRNA-MALAT1 and MicroRNA-146a on Pulmonary Function and Expression Level of COX2 in Patients With Chronic Obstructive Pulmonary Disease

Frontiers in Cell and Developmental Biology, 2021
This study aimed to investigate the role of methylation of MALAT1 and miR-146a in the pathogenesis of chronic obstructive pulmonary disease (COPD). COPD patients were grouped according to their methylation status of MALAT1 and miR-146a promoters, and we ...
Li Sun, Aiqun Xu, Min Li, Xingyuan Xia, Pulin Li, Rui Han, Guanghe Fei, Sijing Zhou, Sijing Zhou, Ran Wang   +9 more
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Diagnosis and Management of Beckwith-Wiedemann Syndrome

Frontiers in Pediatrics, 2020
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. It
Kathleen H. Wang, Jonida Kupa, Kelly A. Duffy, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish   +5 more
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