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148 Results Found

  • Review
  • Open Access
76 Citations
15,259 Views
14 Pages

Screening for genomic sequence variants in genes of predictive and prognostic significance is an integral part of precision medicine. Next-generation sequencing (NGS) technologies are progressively becoming platforms of choice to facilitate this, owi...

  • Article
  • Open Access
20 Citations
4,589 Views
21 Pages

NGS Techniques Reveal a High Diversity of RNA Viral Pathogens and Papillomaviruses in Fresh Produce and Irrigation Water

  • Marta Itarte,
  • Sandra Martínez-Puchol,
  • Eva Forés,
  • Ayalkibet Hundesa,
  • Natàlia Timoneda,
  • Sílvia Bofill-Mas,
  • Rosina Girones and
  • Marta Rusiñol

6 August 2021

Fresh fruits and vegetables are susceptible to microbial contamination at every stage of the food production chain, and as a potential source of pathogens, irrigation water quality is a critical factor. Next-generation sequencing (NGS) techniques hav...

  • Article
  • Open Access
45 Citations
15,581 Views
19 Pages

22 January 2018

The application of next generation sequencing (NGS) for the analysis of mitochondrial (mt) DNA, short tandem repeats (STRs), and single nucleotide polymorphism (SNPs) has demonstrated great promise for challenging forensic specimens, such as degraded...

  • Article
  • Open Access
10 Citations
4,940 Views
13 Pages

Culture-Free Detection of Antibiotic Resistance Markers from Native Patient Samples by Hybridization Capture Sequencing

  • Ines Ferreira,
  • Sarah Lepuschitz,
  • Stephan Beisken,
  • Giuseppe Fiume,
  • Katharina Mrazek,
  • Bernhard J. H. Frank,
  • Silke Huber,
  • Miriam A. Knoll,
  • Arndt von Haeseler and
  • Johannes Weinberger
  • + 3 authors

The increasing incidence of antimicrobial resistance (AMR) is a major global challenge. Routine techniques for molecular AMR marker detection are largely based on low-plex PCR and detect dozens to hundreds of AMR markers. To allow for comprehensive a...

  • Article
  • Open Access
50 Citations
9,403 Views
18 Pages

A Deep-Sequencing Workflow for the Fast and Efficient Generation of High-Quality African Swine Fever Virus Whole-Genome Sequences

  • Jan H. Forth,
  • Leonie F. Forth,
  • Jacqueline King,
  • Oxana Groza,
  • Alexandra Hübner,
  • Ann Sofie Olesen,
  • Dirk Höper,
  • Linda K. Dixon,
  • Christopher L. Netherton and
  • Martin Beer
  • + 3 authors

11 September 2019

African swine fever (ASF) is a severe disease of suids caused by African swine fever virus (ASFV). Its dsDNA genome (170–194 kbp) is scattered with homopolymers and repeats as well as inverted-terminal-repeats (ITR), which hamper whole-genome sequenc...

  • Brief Report
  • Open Access
3 Citations
4,934 Views
9 Pages

A Clinical Case of Scrub Typhus in the United States Forces Korea Patient with Eschar and Genetic Identification of Orientia tsutsugamushi Using Multiplex PCR-Based Next-Generation Sequencing

  • Seungchan Cho,
  • Jon C. Allison,
  • Kkothanahreum Park,
  • Jin Sun No,
  • Seung-Ho Lee,
  • Kyungmin Park,
  • Jongwoo Kim,
  • Terry A. Klein,
  • Heung-Chul Kim and
  • Jin-Won Song
  • + 1 author

An epidemiological investigation was conducted for a scrub typhus case reported in a U.S. Forces Korea military patient in the Republic of Korea in November 2018. The patient had a fever, maculopapular rash, and an eschar. The full-length sequence of...

  • Article
  • Open Access
676 Views
24 Pages

teamNGS Balances Sensitivity for Viruses with Comprehensive Microbial Detection in Clinical Specimens

  • Julie Yamaguchi,
  • Gregory S. Orf,
  • Jenna Malinauskas,
  • Maximillian Mata,
  • Sonja L. Weiss,
  • Kenn Forberg,
  • Todd V. Meyer,
  • Peter O. Wiebe,
  • Illya Mowerman and
  • Michael G. Berg
  • + 16 authors

Probe-based capture represents a highly sensitive and cost-effective approach for overcoming host background and enriching viruses in metagenomic NGS (mNGS) libraries. Using clinical specimens collected globally from patients with fever or respirator...

  • Article
  • Open Access
15 Citations
4,379 Views
20 Pages

The Genomic Impact of Selection for Virulence against Resistance in the Potato Cyst Nematode, Globodera pallida

  • Kyriakos Varypatakis,
  • Pierre-Yves Véronneau,
  • Peter Thorpe,
  • Peter J. A. Cock,
  • Joanne Tze-Yin Lim,
  • Miles R. Armstrong,
  • Sławomir Janakowski,
  • Mirosław Sobczak,
  • Ingo Hein and
  • Vivian C. Blok
  • + 2 authors

28 November 2020

Although the use of natural resistance is the most effective management approach against the potato cyst nematode (PCN) Globodera pallida, the existence of pathotypes with different virulence characteristics constitutes a constraint towards this goal...

  • Review
  • Open Access
50 Citations
12,134 Views
20 Pages

17 July 2015

The molecular characterization of tumors using next generation sequencing (NGS) is an emerging diagnostic tool that is quickly becoming an integral part of clinical decision making. Cancer genomic profiling involves significant challenges including D...

  • Article
  • Open Access
3,291 Views
22 Pages

Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing

  • Angeli Ambayya,
  • Rozaimi Razali,
  • Sarina Sulong,
  • Ezzanie Suffya Zulkefli,
  • Yee Yee Yap,
  • Jameela Sathar and
  • Rosline Hassan

22 February 2023

Characterising genomic variants is paramount in understanding the pathogenesis and heterogeneity of normal-karyotype acute myeloid leukaemia (AML-NK). In this study, clinically significant genomic biomarkers were ascertained using targeted DNA sequen...

  • Review
  • Open Access
18 Citations
9,865 Views
15 Pages

24 February 2016

Genomic sequences of Epstein–Barr virus (EBV) have been of interest because the virus is associated with cancers, such as nasopharyngeal carcinoma, and conditions such as infectious mononucleosis. The progress of whole-genome EBV sequencing has been...

  • Article
  • Open Access
7 Citations
11,433 Views
15 Pages

26 March 2012

Chicken developmental mutants are valuable for discovering sequences and pathways controlling amniote development. Herein we applied the advanced technologies of targeted sequence genomic capture enrichment and next-generation sequencing to discover...

  • Review
  • Open Access
1,845 Views
20 Pages

From Panels to Pathogen Networks: The Expanding Role of Targeted Sequencing in Veterinary Medicine

  • Jiali Luo,
  • Wentao Lu,
  • Ruiting Liu,
  • Shukai Zhang,
  • Jie Cao and
  • Chong Ma

18 August 2025

Targeted sequencing, a pivotal branch of next-generation sequencing (NGS), enables the selective enrichment of specific genomic regions and has demonstrated significant advantages in the detection of animal pathogens. This review systematically explo...

  • Proceeding Paper
  • Open Access
692 Views
8 Pages

12 September 2025

Aptasensors are biosensors that rely on an aptamer’s ability to selectively bind targets. To produce a signal indicative of successful binding, aptamers are frequently modified with reporter agents. However, modification of aptamers with specif...

  • Article
  • Open Access
1,032 Views
12 Pages

Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations

  • Dániel Schmalz,
  • Zoltán Krabóth,
  • Veronika Czoma,
  • Péter Urbán,
  • Attila Gyenesei,
  • István Ruzsics,
  • Veronika Sárosi,
  • Árpád Boronkai,
  • Emőke Papp and
  • Béla Kajtár

27 November 2025

Small-cell lung carcinoma (SCLC) remains one of the most aggressive lung cancers and continues to pose a major challenge for precision oncology. Despite its morphological uniformity, SCLC exhibits marked molecular heterogeneity with recurrent, potent...

  • Article
  • Open Access
1 Citations
2,387 Views
13 Pages

The Clinical Utility of a Next-Generation Sequencing-Based Approach to Detecting Circulating HPV DNA in Patients with Advanced Anal Cancer

  • Deepak Bhamidipati,
  • Jay R. Johnson,
  • Kangyu Lin,
  • Helene Pelicano,
  • Cathy Eng,
  • Ryan Huey,
  • Robert A. Wolff,
  • Daniel M. Halperin,
  • Michael F. Frumovitz and
  • Van K. Morris
  • + 4 authors

19 January 2025

Background: To extend the practicality of liquid biopsy beyond the historical HPV circulating tumor DNA (ctDNA) assays, we evaluated the clinical relevance of a novel next-generation sequencing HPV ctDNA assay in patients with locally advanced and me...

  • Review
  • Open Access
9 Citations
5,070 Views
11 Pages

Human immunodeficiency virus (HIV) infections remain a significant public health concern worldwide. Over the years, sophisticated sequencing technologies such as next-generation sequencing (NGS) have emerged and been utilized to monitor the spread of...

  • Article
  • Open Access
788 Views
14 Pages

Microbial forensics involves analyzing biological evidence to evaluate weaponized microorganisms or their toxins. This study aimed to detect and type Yersinia pestis from four simulated forensic samples—human plasma diluted in phosphate-buffere...

  • Article
  • Open Access
1,137 Views
15 Pages

Evaluation of a Probe-Based Enrichment Protocol for Nanopore Sequencing of Zoonotic Viruses

  • Kailin Hawes,
  • Benjamin Greene,
  • Zachary A. Weishampel,
  • Paul A. Beare,
  • Sarah van Tol,
  • Paul Schaughency,
  • Skyler Kuhn,
  • Alison J. Peel,
  • Vincent J. Munster and
  • Claude Kwe Yinda

31 October 2025

The detection of high-consequence viral pathogens is essential for spillover prevention and reduction in transmission but is limited by the low sensitivity of next-generation sequencing technology. Low-titer field samples from a variety of hosts are...

  • Article
  • Open Access
1 Citations
2,254 Views
18 Pages

miRNA Expression Signatures Induced by Chicken Astrovirus Infection in Chickens

  • Joanna Sajewicz-Krukowska,
  • Paweł Mirosław,
  • Jan P. Jastrzębski,
  • Katarzyna Domańska-Blicharz,
  • Karolina Tarasiuk and
  • Barbara Marzec-Kotarska

12 October 2023

miRNAs represent ubiquitous regulators of gene expression and play an important and pivotal regulatory role in viral disease pathogenesis and virus–host interactions. Although previous studies have provided basic data for understanding the role...

  • Article
  • Open Access
1 Citations
2,039 Views
11 Pages

NFκB1 Polymorphisms Are Associated with Severe Influenza A (H1N1) Virus Infection in a Canadian Population

  • Suhrobjon Mullo Mirzo,
  • Anand Kumar,
  • Naresh Kumar Sharma,
  • Lin Li,
  • Robert Balshaw,
  • Francis A. Plummer,
  • Ma Luo and
  • Binhua Liang

Background: We examined associations between NFκB1 polymorphisms and influenza A (H1N1) clinical outcomes in Canadian. Methods: A total of thirty-six Caucasian patients admitted to the intensive care unit (ICU) in hospitals in Canada were recru...

  • Article
  • Open Access
8 Citations
4,023 Views
17 Pages

7 May 2022

Bovine leukemia virus (BLV) infects cattle and integrates into host DNA, causing enzootic bovine leukosis (EBL), an aggressive B-cell lymphoma. Here, we developed a novel proviral DNA-capture sequencing (proviral DNA-capture-seq) method investigating...

  • Communication
  • Open Access
2 Citations
2,001 Views
7 Pages

Epstein-Barr Virus Lytic Transcripts Correlate with the Degree of Myocardial Inflammation in Heart Failure Patients

  • Christian Baumeier,
  • Dominik Harms,
  • Britta Altmann,
  • Ganna Aleshcheva,
  • Gordon Wiegleb,
  • Thomas Bock,
  • Felicitas Escher and
  • Heinz-Peter Schultheiss

The Epstein-Barr virus (EBV) is frequently found in endomyocardial biopsies (EMBs) from patients with heart failure, but the detection of EBV-specific DNA has not been associated with progressive hemodynamic deterioration. In this paper, we investiga...

  • Article
  • Open Access
1 Citations
1,865 Views
11 Pages

Next-generation sequencing has transformed the acquisition of vast amounts of genomic information, including the rapid identification of target gene sequences in metagenomic databases. However, dominant species can sometimes hinder the detection of r...

  • Article
  • Open Access
4 Citations
2,856 Views
12 Pages

Hybrid Capture-Based Sequencing Enables Highly Sensitive Zoonotic Virus Detection Within the One Health Framework

  • Weiya Mao,
  • Jin Wang,
  • Ting Li,
  • Jiani Wu,
  • Jiangrong Wang,
  • Shubo Wen,
  • Jicheng Huang,
  • Yongxia Shi,
  • Kui Zheng and
  • Cheng Guo
  • + 4 authors

Hybrid capture-based target enrichment prior to sequencing has been shown to significantly improve the sensitivity of detection for genetic regions of interest. In the context of One Health relevant pathogen detection, we present a hybrid capture-bas...

  • Article
  • Open Access
1 Citations
2,392 Views
13 Pages

A Novel Strategy for Screening Tumor-Specific Variable Domain of Heavy-Chain Antibodies

  • Abdur Rafique,
  • Genki Hichiwa,
  • Muhammad Feisal Jatnika and
  • Yuji Ito

The properties of the variable domain of heavy-chain (VHH) antibodies are particularly relevant in cancer therapy. To isolate tumor cell-specific VHH antibodies, VHH phage libraries were constructed from multiple tumor cells. After enriching the libr...

  • Review
  • Open Access
15 Citations
5,022 Views
15 Pages

1 April 2022

Cancers arising in the biliary tract are rare, with varied incidence depending on geographical location. As clinical presentation is typically vague with non-specific symptoms, a large proportion of patients present with unresectable or metastatic di...

  • Perspective
  • Open Access
42 Citations
7,284 Views
10 Pages

21 August 2020

Circulating tumor cells (CTCs) are cells that are shed from tumors into the bloodstream. Cell enrichment and isolation technology as well as molecular profiling via next-generation sequencing have allowed for a greater understanding of tumor cancer b...

  • Article
  • Open Access
2 Citations
2,801 Views
12 Pages

Biofluid Specificity of Long Non-Coding RNA Profile in Hypertension: Relevance of Exosomal Fraction

  • Angela L. Riffo-Campos,
  • Javier Perez-Hernandez,
  • Olga Martinez-Arroyo,
  • Ana Ortega,
  • Ana Flores-Chova,
  • Josep Redon and
  • Raquel Cortes

Non-coding RNA (ncRNA)-mediated targeting of various genes regulates the molecular mechanisms of the pathogenesis of hypertension (HTN). However, very few circulating long ncRNAs (lncRNAs) have been reported to be altered in essential HTN. The aim of...

  • Article
  • Open Access
5 Citations
4,018 Views
15 Pages

Target Enrichment Metagenomics Reveals Human Pegivirus-1 in Pediatric Hematopoietic Stem Cell Transplantation Recipients

  • Natali Ludowyke,
  • Worakorn Phumiphanjarphak,
  • Nopporn Apiwattanakul,
  • Suwimon Manopwisedjaroen,
  • Samart Pakakasama,
  • Insee Sensorn,
  • Ekawat Pasomsub,
  • Wasun Chantratita,
  • Suradej Hongeng and
  • Arunee Thitithanyanont
  • + 1 author

12 April 2022

Human pegivirus-1 (HPgV-1) is a lymphotropic human virus, typically considered nonpathogenic, but its infection can sometimes cause persistent viremia both in immunocompetent and immunosuppressed individuals. In a viral discovery research program in...

  • Review
  • Open Access
1 Citations
2,409 Views
23 Pages

Transgene Mapping in Animals: What to Choose?

  • Alexander Smirnov,
  • Maksim Makarenko and
  • Anastasia Yunusova

The phenomenal progress in biotechnology and genomics is both inspiring and overwhelming—a classic curse of choice, particularly when it comes to selecting methods for mapping transgene DNA integration sites. Transgene localization remains a cr...

  • Article
  • Open Access
9 Citations
3,400 Views
10 Pages

Alphacoronavirus in a Daubenton’s Myotis Bat (Myotis daubentonii) in Sweden

  • Olivia Wesula Lwande,
  • Therese Thalin,
  • Johnny de Jong,
  • Andreas Sjödin,
  • Jonas Näslund,
  • Magnus Evander and
  • Frauke Ecke

8 March 2022

The ongoing COVID-19 pandemic has stimulated a search for reservoirs and species potentially involved in back and forth transmission. Studies have postulated bats as one of the key reservoirs of coronaviruses (CoVs), and different CoVs have been dete...

  • Article
  • Open Access
7 Citations
3,657 Views
16 Pages

Using NGS to Uncover the Corruption of a Peptide Phage Display Selection

  • Danna Kamstrup Sell,
  • Babak Bakhshinejad,
  • Anders Wilgaard Sinkjaer,
  • Ida Melissa Dawoodi,
  • Mette Neiegaard Wiinholt,
  • Ane Beth Sloth,
  • Camilla Stavnsbjerg and
  • Andreas Kjaer

21 September 2024

Phage display has been widely used to identify peptides binding to a variety of biological targets. In the current work, we planned to select novel peptides targeting CD4 through screening of a commercial phage display library (New England Biolabs Ph...

  • Article
  • Open Access
13 Citations
3,416 Views
15 Pages

Identification of Resistance Determinants for a Promising Antileishmanial Oxaborole Series

  • Magali Van den Kerkhof,
  • Philippe Leprohon,
  • Dorien Mabille,
  • Sarah Hendrickx,
  • Lindsay B. Tulloch,
  • Richard J. Wall,
  • Susan Wyllie,
  • Eric Chatelain,
  • Charles E. Mowbray and
  • Guy Caljon
  • + 3 authors

Current treatment options for visceral leishmaniasis have several drawbacks, and clinicians are confronted with an increasing number of treatment failures. To overcome this, the Drugs for Neglected Diseases initiative (DNDi) has invested in the devel...

  • Article
  • Open Access
13 Citations
5,197 Views
20 Pages

Bioinformatics and Next-Generation Data Analysis for Identification of Genes and Molecular Pathways Involved in Subjects with Diabetes and Obesity

  • Prashanth Ganekal,
  • Basavaraj Vastrad,
  • Satish Kavatagimath,
  • Chanabasayya Vastrad and
  • Shivakumar Kotrashetti

7 February 2023

Background and Objectives: A subject with diabetes and obesity is a class of the metabolic disorder. The current investigation aimed to elucidate the potential biomarker and prognostic targets in subjects with diabetes and obesity. Materials and Meth...

  • Article
  • Open Access
19 Citations
4,813 Views
20 Pages

Deep Sequencing Reveals Central Nervous System Compartmentalization in Multiple Transmitted/Founder Virus Acute HIV-1 Infection

  • Sodsai Tovanabutra,
  • Rujipas Sirijatuphat,
  • Phuc T. Pham,
  • Lydia Bonar,
  • Elizabeth A. Harbolick,
  • Meera Bose,
  • Hongshuo Song,
  • David Chang,
  • Celina Oropeza and
  • the RV254/SEARCH 010 Study Team
  • + 24 authors

15 August 2019

HIV-1 disseminates to a broad range of tissue compartments during acute HIV-1 infection (AHI). The central nervous system (CNS) can serve as an early and persistent site of viral replication, which poses a potential challenge for HIV-1 remission stra...

  • Article
  • Open Access
3 Citations
2,743 Views
18 Pages

Combined Multiplexed Phage Display, High-Throughput Sequencing, and Functional Assays as a Platform for Identifying Modulatory VHHs Targeting the FSHR

  • Anielka Zehnaker,
  • Amandine Vallet,
  • Juliette Gourdon,
  • Caterina Sarti,
  • Vinesh Jugnarain,
  • Maya Haj Hassan,
  • Laetitia Mathias,
  • Camille Gauthier,
  • Pauline Raynaud and
  • Éric Reiter
  • + 9 authors

4 November 2023

Developing modulatory antibodies against G protein-coupled receptors is challenging. In this study, we targeted the follicle-stimulating hormone receptor (FSHR), a significant regulator of reproduction, with variable domains of heavy chain-only antib...

  • Article
  • Open Access
7 Citations
5,048 Views
16 Pages

p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression

  • Luiza Steffens Reinhardt,
  • Kira Groen,
  • Alexandre Xavier and
  • Kelly A. Avery-Kiejda

In breast cancer, p53 expression levels are better predictors of outcome and chemotherapy response than TP53 mutation. Several molecular mechanisms that modulate p53 levels and functions, including p53 isoform expression, have been described, and may...

  • Article
  • Open Access
28 Citations
5,929 Views
13 Pages

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

  • Cristina Villanueva-Mendoza,
  • Miquel Tuson,
  • David Apam-Garduño,
  • Marta de Castro-Miró,
  • Raul Tonda,
  • Jean Remi Trotta,
  • Gemma Marfany,
  • Rebeca Valero,
  • Vianney Cortés-González and
  • Roser Gonzàlez-Duarte

19 November 2021

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular diseases of Mesoamerican po...

  • Article
  • Open Access
11 Citations
3,144 Views
12 Pages

29 September 2020

Cellular processes fundamentally depend on protein expression control. At this, protein expression is regulated on the transcriptional and the post-transcriptional level. PUFAs are already known to affect gene transcription. The present study was con...

  • Article
  • Open Access
16 Citations
4,364 Views
16 Pages

Analysis of Compositional Bias in a Commercial Phage Display Peptide Library by Next-Generation Sequencing

  • Ane Beth Sloth,
  • Babak Bakhshinejad,
  • Malte Jensen,
  • Camilla Stavnsbjerg,
  • Mikkel Baldtzer Liisberg,
  • Maria Rossing and
  • Andreas Kjaer

29 October 2022

The principal presumption of phage display biopanning is that the naïve library contains an unbiased repertoire of peptides, and thus, the enriched variants derive from the affinity selection of an entirely random peptide pool. In the current st...

  • Article
  • Open Access
5 Citations
2,143 Views
18 Pages

Characterization of Taxonomic and Functional Dynamics Associated with Harmful Algal Bloom Formation in Recreational Water Ecosystems

  • Faizan Saleem,
  • Rachelle Atrache,
  • Jennifer L. Jiang,
  • Kevin L. Tran,
  • Enze Li,
  • Athanasios Paschos,
  • Thomas A. Edge and
  • Herb E. Schellhorn

7 June 2024

Harmful algal bloom (HAB) formation leads to the eutrophication of water ecosystems and may render recreational lakes unsuitable for human use. We evaluated the applicability and comparison of metabarcoding, metagenomics, qPCR, and ELISA-based method...

  • Article
  • Open Access
26 Citations
6,514 Views
15 Pages

p53 Immunohistochemistry and Mutation Types Mismatching in High-Grade Serous Ovarian Cancer

  • Eunhyang Park,
  • Hyunho Han,
  • Sung-Eun Choi,
  • Hyunjin Park,
  • Ha-Young Woo,
  • Mi Jang,
  • Hyo-Sup Shim,
  • Sohyun Hwang,
  • Haeyoun Kang and
  • Nam-Hoon Cho

24 February 2022

High-grade serous carcinoma (HGSCa) of the ovary is featured by TP53 gene mutation. Missense or nonsense mutation types accompany most cases of HGSCa that correlate well with immunohistochemical (IHC) staining results—an all (missense) or none...

  • Article
  • Open Access
1,388 Views
10 Pages

Premature myocardial infarction (MI) risk factors, including genetic ones, are crucial for an individual risk stratification. The aim of this study was to investigate the role of genetic variants in young patients with MI and a family history of prem...

  • Article
  • Open Access
10 Citations
2,914 Views
9 Pages

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

  • Francesco Nicita,
  • Chiara Aiello,
  • Gessica Vasco,
  • Massimiliano Valeriani,
  • Fabrizia Stregapede,
  • Andrea Sancesario,
  • Michela Armando and
  • Enrico Bertini

13 January 2021

The PLP1 gene, located on chromosome Xq22, encodes the proteolipid protein 1 and its isoform DM20. Mutations in PLP1 cause a spectrum of white matter disorders of variable severity. Here we report on four additional HEMS patients from three families...

  • Article
  • Open Access
8 Citations
6,159 Views
20 Pages

10 January 2019

Keratinocytes constitute the major cell type of epidermis, which participates in re-epithelialization during wound repair and the immune defense response to pathogens. The aim of the current study was to explore the differentially expressed genes and...

  • Article
  • Open Access
35 Citations
6,469 Views
17 Pages

Revealing Temozolomide Resistance Mechanisms via Genome-Wide CRISPR Libraries

  • Clarissa Ribeiro Reily Rocha,
  • Alexandre Reily Rocha,
  • Matheus Molina Silva,
  • Luciana Rodrigues Gomes,
  • Marcela Teatin Latancia,
  • Marina Andrade-Tomaz,
  • Izadora de Souza,
  • Linda Karolynne Seregni Monteiro and
  • Carlos Frederico Martins Menck

1 December 2020

Glioblastoma is a severe type of brain tumor with a poor prognosis and few therapy options. Temozolomide (TMZ) is one of these options, however, with limited success, and failure is mainly due to tumor resistance. In this work, genome-wide CRISPR-Cas...

  • Article
  • Open Access
2 Citations
1,682 Views
17 Pages

Characterization of Endofungal Bacteria and Their Role in the Ectomycorrhizal Fungus Helvella bachu

  • Caihong Wei,
  • Mengqian Liu,
  • Guoliang Meng,
  • Miao Wang,
  • Xin Zhou,
  • Jianping Xu,
  • Jianwei Hu,
  • Lili Zhang and
  • Caihong Dong

23 December 2024

Helvella bachu, an ectomycorrhizal fungus, forms a symbiotic relationship with Populus euphratica, a rare and endangered species crucial to desert riparian ecosystems. In this study, endofungal bacteria (EFBs) within the fruiting bodies of H. bachu w...

  • Article
  • Open Access
1 Citations
2,434 Views
9 Pages

Rapid Identification of Lineage and Drug Resistance in Clinical Samples of Mycobacterium tuberculosis

  • Jéssica Comín,
  • Jesús Viñuelas,
  • Carmen Lafoz,
  • Alberto Cebollada,
  • Daniel Ibarz,
  • María-José Iglesias and
  • Sofía Samper

Background: Mycobacterium tuberculosis is a slow-growing bacterium, which could delay its diagnosis and, therefore, promote the spread of the disease. Whole-genome sequencing allows us to obtain the complete drug-resistance profile of the strain; how...

  • Article
  • Open Access
29 Citations
10,302 Views
27 Pages

Chromatin Interaction Analysis with Updated ChIA-PET Tool (V3)

  • Guoliang Li,
  • Tongkai Sun,
  • Huidan Chang,
  • Liuyang Cai,
  • Ping Hong and
  • Qiangwei Zhou

22 July 2019

Understanding chromatin interactions is important because they create chromosome conformation and link the cis- and trans- regulatory elements to their target genes for transcriptional regulation. Chromatin Interaction Analysis with Paired-End Tag (C...

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