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3,367 Results Found

  • Article
  • Open Access
5 Citations
2,665 Views
21 Pages

Trace DNA Transfer in Co-Working Spaces: The Importance of Background DNA Analysis

  • Martina Onofri,
  • Federica Tommolini,
  • Simona Severini,
  • Cristiana Gambelunghe,
  • Massimo Lancia,
  • Luigi Carlini and
  • Eugenia Carnevali

12 February 2024

The presence of background DNA (bgDNA) can hinder the evaluation of DNA evidence at the activity level, especially when the suspect is expected to be retrieved due to their habitual occupation of the investigated environment. Based on real-life casew...

  • Feature Paper
  • Article
  • Open Access
8 Citations
3,743 Views
19 Pages

Establishing the Signal above the Noise: Accounting for an Environmental Background in the Detection and Quantification of Salmonid Environmental DNA

  • Morgan D. Hocking,
  • Jeffrey C. MacAdams,
  • Michael J. Allison,
  • Lauren C. Bergman,
  • Robert Sneiderman,
  • Ben F. Koop,
  • Brian M. Starzomski,
  • Mary L. Lesperance and
  • Caren C. Helbing

29 September 2022

A current challenge for environmental DNA (eDNA) applications is how to account for an environmental (or false-positive) background in surveys. We performed two controlled experiments in the Goldstream Hatchery in British Columbia using a validated c...

  • Article
  • Open Access
10 Citations
4,693 Views
19 Pages

Discrimination of DNA Methylation Signal from Background Variation for Clinical Diagnostics

  • Robersy Sanchez,
  • Xiaodong Yang,
  • Thomas Maher and
  • Sally A. Mackenzie

27 October 2019

Advances in the study of human DNA methylation variation offer a new avenue for the translation of epigenetic research results to clinical applications. Although current approaches to methylome analysis have been helpful in revealing an epigenetic in...

  • Review
  • Open Access
5 Citations
20,084 Views
35 Pages

The Transfer, Prevalence, Persistence, and Recovery of DNA from Body Areas in Forensic Science: A Review

  • Cara Woollacott,
  • Mariya Goray,
  • Roland A. H. van Oorschot and
  • Duncan Taylor

Forensic and medical examiners are often required to sample the body of a victim (either living or deceased), or a suspect of a criminal offence, for foreign DNA. This can provide useful information when the alleged activity involves the presence of...

  • Article
  • Open Access
2 Citations
1,928 Views
14 Pages

Matrix Background Screening of an ssDNA Aptamer and Its Identification Against Lactopontin

  • Chao Zhu,
  • Ziru Feng,
  • Mengmeng Yan,
  • Hongxia Du,
  • Tengfei Li and
  • Jiangsheng Mao

4 November 2024

Lactopontin (LPN) is a highly phosphorylated O-glycosylated acidic protein closely associated with infant gut, brain, and immune development, and its recognition is urgent due to its rising application in fortified dairy products and infant formula....

  • Article
  • Open Access
13 Citations
4,321 Views
20 Pages

Direct and Secondary Transfer of Touch DNA on a Credit Card: Evidence Evaluation Given Activity Level Propositions and Application of Bayesian Networks

  • Martina Onofri,
  • Cristina Altomare,
  • Simona Severini,
  • Federica Tommolini,
  • Massimo Lancia,
  • Luigi Carlini,
  • Cristiana Gambelunghe and
  • Eugenia Carnevali

27 April 2023

In a judiciary setting, questions regarding the mechanisms of transfer, persistence, and recovery of DNA are increasingly more common. The forensic expert is now asked to evaluate the strength of DNA trace evidence at activity level, thus assessing i...

  • Article
  • Open Access
3 Citations
3,531 Views
10 Pages

A Novel Method That Allows SNP Discrimination with 160:1 Ratio for Biosensors Based on DNA-DNA Hybridization

  • Satish Balasaheb Nimse,
  • Keum-Soo Song,
  • Shrikant Dashrath Warkad and
  • Taisun Kim

6 August 2021

Highly sensitive (high SBR) and highly specific (high SNP discrimination ratio) DNA hybridization is essential for a biosensor with clinical application. Herein, we propose a method that allows detecting multiple pathogens on a single platform with t...

  • Article
  • Open Access
4 Citations
3,676 Views
12 Pages

DNA Protection by an Aronia Juice-Based Food Supplement

  • Tamara Bakuradze,
  • Peter Meiser,
  • Jens Galan and
  • Elke Richling

Background: This study investigated the effects of an aronia juice-based food supplement on background and total DNA strand breaks in whole blood, and on H2O2-induced DNA strand breaks in isolated peripheral blood lymphocytes. Methods: Ninety-one hea...

  • Article
  • Open Access
4 Citations
4,307 Views
10 Pages

A Label-Free Fluorescent DNA Machine for Sensitive Cyclic Amplification Detection of ATP

  • Jingjing Zhang,
  • Jialun Han,
  • Shehong Feng,
  • Chaoqun Niu,
  • Chen Liu,
  • Jie Du and
  • Yong Chen

29 November 2018

In this study, a target recycled amplification, background signal suppression, label-free fluorescent, enzyme-free deoxyribonucleic acid (DNA) machine was developed for the detection of adenosine triphosphate (ATP) in human urine. ATP and DNA fuel st...

  • Article
  • Open Access
6 Citations
12,528 Views
12 Pages

18 May 2020

The genetic markers on mitochondria DNA (mtDNA) and Y-chromosome can be applied as a powerful tool in population genetics. We present a study to reveal the genetic background of Kyrgyz group, a Chinese ethnic group living in northwest China, and gene...

  • Review
  • Open Access
4 Citations
2,712 Views
18 Pages

POLD3 as Controller of Replicative DNA Repair

  • Nabilah Alli,
  • Anna Lou-Hing,
  • Edward L. Bolt and
  • Liu He

19 November 2024

Multiple modes of DNA repair need DNA synthesis by DNA polymerase enzymes. The eukaryotic B-family DNA polymerase complexes delta (Polδ) and zeta (Polζ) help to repair DNA strand breaks when primed by homologous recombination or single-str...

  • Article
  • Open Access
8 Citations
3,605 Views
12 Pages

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays

  • Ariane Hallermayr,
  • Thomas Keßler,
  • Moritz Fujera,
  • Ben Liesfeld,
  • Samuel Bernstein,
  • Simon von Ameln,
  • Denny Schanze,
  • Verena Steinke-Lange,
  • Julia M. A. Pickl and
  • Elke Holinski-Feder
  • + 1 author

17 October 2023

Background: Liquid biopsy enables the non-invasive analysis of genetic tumor variants in circulating free DNA (cfDNA) in plasma. Accurate analytical validation of liquid biopsy NGS assays is required to detect variants with low variant allele frequen...

  • Review
  • Open Access
126 Citations
17,142 Views
22 Pages

DNA-Based Biosensors for the Biochemical Analysis: A Review

  • Yu Hua,
  • Jiaming Ma,
  • Dachao Li and
  • Ridong Wang

20 March 2022

In recent years, DNA-based biosensors have shown great potential as the candidate of the next generation biomedical detection device due to their robust chemical properties and customizable biosensing functions. Compared with the conventional biosens...

  • Review
  • Open Access
44 Citations
6,426 Views
15 Pages

Genomic Instability and Cancer Risk Associated with Erroneous DNA Repair

  • Ken-ichi Yoshioka,
  • Rika Kusumoto-Matsuo,
  • Yusuke Matsuno and
  • Masamichi Ishiai

12 November 2021

Many cancers develop as a consequence of genomic instability, which induces genomic rearrangements and nucleotide mutations. Failure to correct DNA damage in DNA repair defective cells, such as in BRCA1 and BRCA2 mutated backgrounds, is directly asso...

  • Article
  • Open Access
178 Views
19 Pages

Magnetic Nanoparticle-Integrated Microfluidic Chip Enables Reliable Isolation of Plasma Cell-Free DNA for Molecular Diagnostics

  • Amir Monfaredan,
  • Sena Şen,
  • Arash Adamnejad Ghafour,
  • Ebru Cingöz Çapan,
  • Muhammed Ertuğrul Çapan,
  • Ridvan Şeçkin Özen,
  • Şeref Buğra Tuncer and
  • Oral Öncül

Background/Objectives: Cell-free DNA (cfDNA) is a valuable biomarker for cancer diagnosis and therapy monitoring; however, its low abundance and fragmented nature present major challenges for reliable isolation, particularly from limited plasma volum...

  • Benchmark
  • Open Access
9 Citations
8,162 Views
20 Pages

Most natural DNA and RNA are devoid of long trinucleotide (TN) sequences that lack one specific nucleotide (missing nucleotide (MN)). Here we developed a novel method that is based on rolling circle amplification (RCA), in which the TN-information of...

  • Article
  • Open Access
1 Citations
1,513 Views
14 Pages

Chromosomal Localization and Diversity Analysis of 5S and 18S Ribosomal DNA in 13 Species from the Genus Ipomoea

  • Jingyu Wu,
  • Tao Lang,
  • Cong Zhang,
  • Fan Yang,
  • Feiyang Yang,
  • Huijuan Qu,
  • Zhigang Pu and
  • Junyan Feng

19 October 2024

Background: Sweet potato (Ipomoea batatas (L.) Lam.), a key global root crop, faces challenges due to its narrow genetic background. This issue can be addressed by utilizing the diverse genetic resources of sweet potato’s wild relatives, which...

  • Article
  • Open Access
22 Citations
5,324 Views
9 Pages

Development of a Highly Sensitive FcMito qPCR Assay for the Quantification of the Toxigenic Fungal Plant Pathogen Fusarium culmorum

  • Katarzyna Bilska,
  • Tomasz Kulik,
  • Anna Ostrowska-Kołodziejczak,
  • Maciej Buśko,
  • Matias Pasquali,
  • Marco Beyer,
  • Anna Baturo-Cieśniewska,
  • Marcin Juda,
  • Dariusz Załuski and
  • Juliusz Perkowski
  • + 2 authors

21 May 2018

Fusarium culmorum is a ubiquitous, soil-borne fungus (ascomycete) causing foot and root rot and Fusarium head blight on cereals. It is responsible for yield and quality losses as well as grain contamination with mycotoxins, which are a potential heal...

  • Article
  • Open Access
22 Citations
10,402 Views
16 Pages

9 February 2012

We have developed a novel microarray technology based on total internal reflection fluorescence (TIRF) in combination with DNA and protein bioassays immobilized at the TIRF surface. Unlike conventional microarrays that exhibit reduced signal-to-backg...

  • Article
  • Open Access
1 Citations
3,073 Views
12 Pages

18 October 2024

Six hundred million cases of disease and roughly 420,000 deaths occur globally each year due to foodborne pathogens. Current methods to screen and identify pathogens in swine, poultry, and cattle products include immuno-based techniques (e.g., immuno...

  • Article
  • Open Access
12 Citations
3,062 Views
10 Pages

Target Recognition– and HCR Amplification–Induced In Situ Electrochemical Signal Probe Synthesis Strategy for Trace ctDNA Analysis

  • Aiting Cai,
  • Luxia Yang,
  • Xiaoxia Kang,
  • Jinxia Liu,
  • Feng Wang,
  • Haiwei Ji,
  • Qi Wang,
  • Mingmin Wu,
  • Guo Li and
  • Li Wu
  • + 2 authors

8 November 2022

An electrochemical-DNA (E-DNA) sensor was constructed by using DNA metallization to produce an electrochemical signal reporter in situ and hybridization chain reaction (HCR) as signal amplification strategy. The cyclic voltammetry (CV) technique was...

  • Review
  • Open Access
88 Citations
14,597 Views
12 Pages

Cell-Free DNA Fragmentomics in Liquid Biopsy

  • Spencer C. Ding and
  • Y.M. Dennis Lo

Cell-free DNA (cfDNA) in bodily fluids has rapidly transformed the development of noninvasive prenatal testing, cancer liquid biopsy, and transplantation monitoring. Plasma cfDNA consists of a mixture of molecules originating from various bodily tiss...

  • Article
  • Open Access
6 Citations
3,839 Views
18 Pages

Defining Optimal Conditions for Tumor Extracellular Vesicle DNA Extraction for Mutation Profiling

  • Julia Elzanowska,
  • Laura Berrocal,
  • Beatriz García-Peláez,
  • Marta Vives-Usano,
  • Beatriz Passos Sebo,
  • Joana Maia,
  • Silvia Batista,
  • Jaakko Teppo,
  • Markku Varjosalo and
  • Bruno Costa-Silva
  • + 2 authors

2 July 2022

(1) Background: Extracellular vesicles (EVs) have emerged as crucial players in the communication between cells in both physiological and pathological scenarios. The functions of EVs are strongly determined by their molecular content, which includes...

  • Review
  • Open Access
10 Citations
4,985 Views
17 Pages

Genetic information is not transmitted solely by DNA but by the epigenetics process. Epigenetics describes molecular missing link pathways that could bridge the gap between the genetic background and environmental risk factors that contribute to the...

  • Review
  • Open Access
14 Citations
9,628 Views
26 Pages

16 September 2011

The genome is constantly exposed to mutations that can originate during replication or as a result of the action of both endogenous and/or exogenous damaging agents [such as reactive oxygen species (ROS), UV light, genotoxic environmental compounds,...

  • Article
  • Open Access
4 Citations
5,031 Views
11 Pages

11 January 2025

Background: As the field of ancient DNA research continues to evolve and produce significant discoveries, it is important to address the crucial limitations it still faces. Under conducive conditions, DNA can persist for thousands of years within hum...

  • Brief Report
  • Open Access
1 Citations
1,977 Views
9 Pages

Extracellular DNA and Deoxyribonuclease Activity as Prognostic Markers in Sepsis

  • Monika Janíková,
  • Nikola Pribulová,
  • Katarína Kmeťová,
  • Kristína Macáková,
  • Anna Dobišová,
  • Michaela Kopčová,
  • Mária Bucová,
  • Barbora Vlková and
  • Peter Celec

Background/Objectives: Sepsis is characterized by a dysregulated immune response to infection and is associated with high lethality. Extracellular DNA (ecDNA) has drawn significant interest as a damage-associated molecular pattern because of its pote...

  • Article
  • Open Access
1,731 Views
11 Pages

Mitochondrial Genome Instability in W303-SK1 Yeast Cytoplasmic Hybrids

  • Khoren K. Epremyan,
  • Arteom A. Burlaka,
  • Olga V. Markova,
  • Kseniia V. Galkina and
  • Dmitry A. Knorre

14 November 2024

Unlike most animals, some fungi, including baker’s yeast, inherit mitochondrial DNA (mtDNA) from both parents. When haploid yeast cells fuse, they form a heteroplasmic zygote, whose offspring retain one or the other variant of mtDNA. Meanwhile,...

  • Article
  • Open Access
5 Citations
3,197 Views
12 Pages

A Point-of-Care Nucleic Acid Quantification Method by Counting Light Spots Formed by LAMP Amplicons on a Paper Membrane

  • Yanju Chen,
  • Yuanyuan Zhu,
  • Cheng Peng,
  • Xiaofu Wang,
  • Jian Wu,
  • Huan Chen and
  • Junfeng Xu

10 March 2024

Nucleic acid quantification, allowing us to accurately know the copy number of target nucleic acids, is significant for diagnosis, food safety, agricultural production, and environmental protection. However, current digital quantification methods req...

  • Article
  • Open Access
1,154 Views
29 Pages

Mechanisms Maintaining Mitochondrial DNA Polymorphisms: The Role of Mito-Nuclear Interactions, Sex-Specific Selection, and Genotype-by-Environment Interactions in Drosophila subobscura

  • Pavle Erić,
  • Marija Savić Veselinović,
  • Aleksandra Patenković,
  • Marija Tanasković,
  • Bojan Kenig,
  • Katarina Erić,
  • Boris Inđić,
  • Stefan Stanovčić and
  • Mihailo Jelić

15 April 2025

Experimental mito-nuclear introgression lines (MNILs) were established by backcrossing isofemale lines of D. subobscura originating from the same populations. MNILs were subjected to a series of life-history experiments designed to test the fitness o...

  • Article
  • Open Access
75 Citations
7,409 Views
13 Pages

Increased Plasma Circulating Cell-Free DNA Could Be a Potential Marker for Oral Cancer

  • Li-Han Lin,
  • Kuo-Wei Chang,
  • Shou-Yen Kao,
  • Hui-Wen Cheng and
  • Chung-Ji Liu

24 October 2018

Background: Oral squamous cell carcinoma (OSCC) is a disease that affects patients worldwide. DNA of dead cells is released into the blood stream and may be isolated from plasma or serum samples. This DNA is termed cell-free DNA (cfDNA). cfDNA is inc...

  • Article
  • Open Access
2 Citations
2,441 Views
18 Pages

Estimating Carbon Biomass Using DNA: Phytoplankton as a Case Study

  • Lingjie Zhou,
  • Nanjing Ji,
  • Brittany N. Sprecher and
  • Senjie Lin

3 March 2025

Background/Objectives: Estimating carbon content for cells is often necessary but difficult. In many biological, oceanographic, and marine biogeochemical studies, information on phytoplankton species composition and their biomass contribution to the...

  • Article
  • Open Access
3 Citations
2,423 Views
10 Pages

Circulating Tumor DNA (ctDNA) Clearance May Predict Treatment Response in Neoadjuvant Colorectal Cancer Management

  • Britney Niemann,
  • John Moise,
  • Michael Sestito,
  • Midhun Malla,
  • Kevin Train,
  • Douglas Murken,
  • Keri Mayers,
  • Emily Groves and
  • Mary Garland-Kledzik

14 March 2024

Background: Circulating tumor DNA (ctDNA) is extracellular DNA released by tumors and has been proposed as a marker of residual disease as well as a predictor of disease recurrence in the adjuvant setting. However, data are lacking on the utility of...

  • Article
  • Open Access
471 Views
12 Pages

Decay of Food DNA in the Gastrointestinal Tract: Implications for Molecular Dietary Records

  • Manasvi J. Patel,
  • Debora Regina Romualdo da Silva,
  • Jihyun Kim,
  • Danilo M. dos Santos,
  • Sameer Sonkusale and
  • Giovanni Widmer

11 December 2025

Background/Objectives: The widely recognized potential for biased responses to food frequency questionnaires and non-compliant self-reporting is motivating the search for alternative food intake records. The analysis of fecal DNA has been investigate...

  • Article
  • Open Access
269 Views
11 Pages

Sequencing and Analysis of mtDNA Genomes from the Teeth of Early Medieval Horses in Poland

  • Edyta Pasicka,
  • Mateusz Baca,
  • Danijela Popović,
  • Daniel Makowiecki and
  • Maciej Janeczek

18 January 2026

Background: This study presents the sequencing and analysis of mitochondrial DNA (mtDNA) genomes from nine early medieval horse remains excavated across archaeological sites in Silesia region in present day Poland. Methods: Using aDNA extraction prot...

  • Review
  • Open Access
51 Citations
7,093 Views
17 Pages

During the last two decades, several international consortia have been established to unveil the molecular background of human cancers including gliomas. As a result, a huge outbreak of new genetic and epigenetic data appeared. It was not only shown...

  • Article
  • Open Access
10 Citations
3,415 Views
13 Pages

Baseline Plasma Tumor DNA (ctDNA) Correlates with PSA Kinetics in Metastatic Castration-Resistant Prostate Cancer (mCRPC) Treated with Abiraterone or Enzalutamide

  • Vincenza Conteduca,
  • Chiara Casadei,
  • Emanuela Scarpi,
  • Nicole Brighi,
  • Giuseppe Schepisi,
  • Cristian Lolli,
  • Giorgia Gurioli,
  • Ilaria Toma,
  • Giulia Poti and
  • Ugo De Giorgi
  • + 1 author

29 April 2022

Background: Baseline high circulating tumor DNA (ctDNA) fraction in plasma and androgen receptor (AR) copy number (CN) gain identify mCRPC patients with worse outcomes. This study aimed to assess if ctDNA associates with PSA kinetics. Methods: In thi...

  • Article
  • Open Access
3 Citations
2,535 Views
7 Pages

Clinical Characteristics of Mitochondrial DNA Copy Number in Osteonecrosis of the Femoral Head

  • Si-Wook Lee,
  • Kyung-Jae Lee,
  • Beom-Soo Kim,
  • Hyuk-Jun Kwon and
  • Jae-Ho Lee

Background and objectives: Alterations in mitochondrial DNA (mtDNA) have been observed and studied in various diseases. However, the clinical value of the mtDNA copy number (mtDNA-CN) alterations in osteonecrosis of the femoral head (ONFH) is poorly...

  • Review
  • Open Access
6 Citations
3,548 Views
17 Pages

20 May 2022

The idea of using tumor-specific cell-free DNA (ctDNA) as a tumor biomarker has been widely tested and validated in various types of human cancers and different clinical settings. ctDNA can reflect the presence or size of tumors in a real-time manner...

  • Article
  • Open Access
12 Citations
3,429 Views
11 Pages

Dynamics and Half-Life of Cell-Free DNA After Exercise: Insights from a Fragment Size-Specific Measurement Approach

  • Ryutaro Yamamoto,
  • Hiroshi Asano,
  • Ryo Tamaki,
  • Yoshihiro Saito,
  • Ami Hosokawa,
  • Hidemichi Watari and
  • Takeshi Umazume

Background: Cell-free DNA (cfDNA) is present in healthy individuals but is elevated in those undergoing physical exertion, trauma, sepsis, and certain cancers. Maintaining cfDNA concentrations is vital for immune homeostasis and preventing inflammato...

  • Article
  • Open Access
5 Citations
3,374 Views
17 Pages

Ultra Deep Sequencing of Circulating Cell-Free DNA as a Potential Tool for Hepatocellular Carcinoma Management

  • Mónica Higuera,
  • Elena Vargas-Accarino,
  • María Torrens,
  • Josep Gregori,
  • María Teresa Salcedo,
  • Joan Martínez-Campreciós,
  • Gloria Torres,
  • María Bermúdez-Ramos,
  • Itxarone Bilbao and
  • Beatriz Mínguez
  • + 5 authors

11 August 2022

Background: Cell-free DNA (cfDNA) concentrations have been described to be inversely correlated with prognosis in cancer. Mutations in HCC-associated driver genes in cfDNA have been reported, but their relation with patient’s outcome has not be...

  • Article
  • Open Access
9 Citations
3,213 Views
11 Pages

Circulating HPV DNA as a Biomarker for Pre-Invasive and Early Invasive Cervical Cancer: A Feasibility Study

  • Stacey J. Bryan,
  • Jen Lee,
  • Richard Gunu,
  • Allison Jones,
  • Adeola Olaitan,
  • Adam N. Rosenthal,
  • Ros J. Cutts,
  • Isaac Garcia-Murillas,
  • Nick Turner and
  • Shreerang A. Bhide
  • + 1 author

2 May 2023

Background: High-risk HPV infection is responsible for >99% of cervix cancers (CC). In persistent infections that lead to cancer, the tumour breaches the basement membrane, releasing HPV-DNA into the bloodstream (cHPV-DNA). A next-generation seque...

  • Review
  • Open Access
11 Citations
2,898 Views
12 Pages

Epigenetics in Glaucoma

  • Fabiana D’Esposito,
  • Caterina Gagliano,
  • Philip Anthony Bloom,
  • Maria Francesca Cordeiro,
  • Alessandro Avitabile,
  • Giuseppe Gagliano,
  • Ciro Costagliola,
  • Teresio Avitabile,
  • Mutali Musa and
  • Marco Zeppieri

Primary open angle glaucoma (POAG) is defined as a “genetically complex trait”, where modifying factors act on a genetic predisposing background. For the majority of glaucomatous conditions, DNA variants are not sufficient to explain pathogenesis. So...

  • Article
  • Open Access
2 Citations
3,024 Views
11 Pages

Effect of the Matrix and Target on the Accurate Quantification of Genomic and Plasmid DNA by Digital Polymerase Chain Reaction

  • Nengwu Si,
  • Jun Li,
  • Hongfei Gao,
  • Yunjing Li,
  • Shanshan Zhai,
  • Fang Xiao,
  • Li Zhang,
  • Gang Wu and
  • Yuhua Wu

In polymerase chain reaction (PCR)-based nucleic acid quantification, the DNA template type, primer/probe sequence, and instrument platform such as real-time quantitative PCR (qPCR) and digital PCR (dPCR) affect the accuracy and reliability of quanti...

  • Case Report
  • Open Access
7 Citations
3,713 Views
9 Pages

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

  • Mouna Habbane,
  • Laura Llobet,
  • M. Pilar Bayona-Bafaluy,
  • José E. Bárcena,
  • Leticia Ceberio,
  • Covadonga Gómez-Díaz,
  • Laura Gort,
  • Rafael Artuch,
  • Julio Montoya and
  • Eduardo Ruiz-Pesini

27 August 2020

Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic...

  • Article
  • Open Access
50 Citations
5,314 Views
19 Pages

Maize DNA Methylation in Response to Drought Stress Is Involved in Target Gene Expression and Alternative Splicing

  • Qi Wang,
  • Jie Xu,
  • Xuemei Pu,
  • Haozhe Lv,
  • Yanjun Liu,
  • Huili Ma,
  • Fengkai Wu,
  • Qingjun Wang,
  • Xuanjun Feng and
  • Yanli Lu
  • + 3 authors

DNA methylation is important for plant growth, development, and stress response. To understand DNA methylation dynamics in maize roots under water stress (WS), we reanalyzed DNA methylation sequencing data to profile DNA methylation and the gene expr...

  • Article
  • Open Access
1 Citations
1,702 Views
10 Pages

A Preliminary Study of the Occurrence of Genetic Changes in mtDNA in the Muscles in Children Treated for Strabismus

  • Wojciech Pawłowski,
  • Joanna Reszeć-Giełażyn,
  • Marzanna Cechowska-Pasko,
  • Beata Urban and
  • Alina Bakunowicz-Łazarczyk

10 July 2024

Background: The dysregulation of extraocular muscles (EOMs) in the strabismus may be partly due to modification in the mitochondrial DNA (mtDNA). Currently, little is known about changes occurring in mtDNA of EOMs in patients with strabismus, therefo...

  • Article
  • Open Access
15 Citations
3,603 Views
26 Pages

Molecular and Cytogenetic Analysis of rDNA Evolution in Crepis Sensu Lato

  • Magdalena Senderowicz,
  • Teresa Nowak,
  • Hanna Weiss-Schneeweiss,
  • Laszlo Papp and
  • Bozena Kolano

Although Crepis was the first model plant group in which chromosomal changes were considered to play an important role in speciation, their chromosome structure and evolution have been barely investigated using molecular cytogenetic methods. The aim...

  • Article
  • Open Access
21 Citations
4,494 Views
15 Pages

Prognostic Significance of SLFN11 Methylation in Plasma Cell-Free DNA in Advanced High-Grade Serous Ovarian Cancer

  • Victoria Tserpeli,
  • Dimitra Stergiopoulou,
  • Dora Londra,
  • Lydia Giannopoulou,
  • Paul Buderath,
  • Ioanna Balgkouranidou,
  • Nikolaos Xenidis,
  • Christina Grech,
  • Eva Obermayr and
  • Evi S. Lianidou
  • + 5 authors

21 December 2021

Background: Epigenetic alterations in ctDNA are highly promising as a source of novel potential liquid biopsy biomarkers and comprise a very promising liquid biopsy approach in ovarian cancer, for early diagnosis, prognosis and response to treatment....

  • Article
  • Open Access
625 Views
15 Pages

15 September 2025

Background: While the fundamental principles of chromatin 3D organization and its interplay with transcriptional regulation are still not completely understood, increasing evidence suggests a considerable role of DNA repeats. Considering the influenc...

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