33,792 results match your criteria dna profile


A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN.

Neurochirurgie 2021 Jun 19. Epub 2021 Jun 19.

Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Background: The jugular foramen (JF) can be the site of several tumours. Paragangliomas, schwannomas and meningiomas are the most commonly reported. We describe a case of melanocytoma originating from the JF and presenting with an accessory nerve palsy. Read More

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Cohort profile: The COPENHAGEN Minipuberty Study-A longitudinal prospective cohort of healthy full-term infants and their parents.

Paediatr Perinat Epidemiol 2021 Jun 22. Epub 2021 Jun 22.

Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen O, Denmark.

Background: The hypothalamic-pituitary-gonadal (HPG) axis governs sexual maturation and reproductive function in humans. In early postnatal life, it is transiently active during which circulating sex steroids reach adult levels. While this so-called minipuberty represents a universal phenomenon in infants of both sexes, its role for early maturation and growth remains incompletely understood. Read More

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New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies.

Neural Comput Appl 2021 Jun 16:1-24. Epub 2021 Jun 16.

Division of Medical Biotechnologies and Preventive Medicine, Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, via C. Valeria 1, 98125 Messina, Italy.

During the last (15) years, improved omics sequencing technologies have expanded the scale and resolution of various biological applications, generating high-throughput datasets that require carefully chosen software tools to be processed. Therefore, following the sequencing development, bioinformatics researchers have been challenged to implement alignment algorithms for next-generation sequencing reads. However, nowadays selection of aligners based on genome characteristics is poorly studied, so our benchmarking study extended the "state of art" comparing 17 different aligners. Read More

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Comparative evaluation of different human dental tissues and alveolar bone for DNA quantity and quality for forensic investigation.

Forensic Sci Int 2021 Jun 17;325:110877. Epub 2021 Jun 17.

Laboratory of Forensic Biology and Biotechnology, School of Forensic Science, National Forensic Sciences University, Sector 9, Gandhinagar 382007, Gujarat, India. Electronic address:

In this study, the efficacy of dental tissues (cementum, dentine and pulp) and alveolar bone as a potential source of DNA was tested in terms of the quality and quantity using nuclear and mitochondrial markers for forensic investigation.This study found dentine as the best source of DNA with only 5.36% imbalanced (PHR<0. Read More

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Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G>C] in a Pregnant Woman from Southern Thailand.

Genet Test Mol Biomarkers 2021 Jun;25(6):426-433

Department of Medical Technology and Clinical Pathology, Hatyai Hospital, Songkhla, Thailand.

Delta-chain (δ-chain) variants are a group of rare hemoglobin (Hb) variants resulting from mutations within the δ-globin gene. Although quantification of Hb A2 levels is a useful screening tool for the beta-thalassemia trait, the coinheritance of a δ-globin gene mutation can lead to misinterpretation of diagnostic results. To identify an unreported Hb A2 variant in Thailand and to develop a high resolution melting (HRM) curve assay for the four δ-globin chain variants found in the Thai population. Read More

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sp. nov., an airborne bacterium isolated from King George Island, Antarctica.

Int J Syst Evol Microbiol 2021 Jun;71(6)

Laboratorio de Ecología Microbiana Medioambiental, Facultad de Química y Unidad Asociada del Instituto de Química Biológica, Facultad de Ciencias, Universidad de la República, Montevideo, Uruguay.

A rod-shaped and Gram-stain-negative bacterial strain 9A, was isolated from an air sample collected at King George Island, maritime Antarctica. Phylogenetic analysis based on 16S rRNA gene sequence reveals that strain 9A belongs to the genus and shows the highest similarity to CCM 8649 (96.8 %). Read More

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Interpretation of DNA data within the context of UK forensic science - investigation.

Emerg Top Life Sci 2021 Jun 21. Epub 2021 Jun 21.

Computer Science Department, Aston University, Birmingham, U.K.

This article is the second part of a review of the interpretation of DNA data in forensic science. The first part describes the evaluation of autosomal profile for criminal trials where an evidential weight is assigned to the profile of a person of interest (POI) and a crime-scene profile. This part describes the state of the art and future advances in the interpretation of forensic DNA data for providing intelligence information during an investigation. Read More

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Lurbinectedin for the treatment of small cell lung cancer.

Drugs Today (Barc) 2021 Jun;57(6):377-385

Key Laboratory of Shenzhen Respiratory Diseases, Institute of Respiratory Disease, The Second Affiliated Hospital of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen People's Hospital, Shenzhen, China.

Small cell lung cancer (SCLC) is a rapidly progressive, aggressive metastatic and lethal subtype of lung cancer. Unfortunately, there has been little progress regarding the development of novel treatments for SCLC. However, lurbinectedin, a transcriptional inhibitor, has emerged as a potential novel treatment for cancer. Read More

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Alterations of epigenetic regulators and P53 mutations in murine mesenchymal stem cell cultures: A possible mechanism of spontaneous transformation.

Cancer Biomark 2021 Jun 12. Epub 2021 Jun 12.

Division of Gastroenterology, Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.

Background: Recent studies demonstrated the involvement of mesenchymal stem/stromal cells (MSCs) in carcinogenesis, but the molecular mechanism behind this transformation is still obscured.

Objective: To screen both the expression levels of polycomb and trithorax epigenetic regulators and TrP53 mutations in early and late MSC culture passages in an attempt to decipher the mechanism of spontaneous transformation.

Methods: The study was conducted on early and late passages of MSC culture model from C57BL/6J mice. Read More

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Analytical design of multi-threshold and high fan-in DNA-based logical sensors to profile the pattern of MS microRNAs.

Biomed Eng Lett 2021 May 11;11(2):131-145. Epub 2021 May 11.

Faculty of Computer Science and Engineering, Shahid Beheshti University, Tehran, Iran.

Early detection of diseases is very important to increase the life quality and reduce the treatment cost for the patient. MicroRNAs have been introduced in recent years as an efficient class of biomarkers for detecting the risky situation of many diseases such as cancers, Multiple sclerosis (MS), and heart attacks, and other diseases. Now, real-time PCR has been used to profile the microRNA expression, which is expensive, time-consuming, and has low accuracy. Read More

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Exploiting digital droplet PCR and Next Generation Sequencing technologies to determine the relative abundance of individual Eimeria species in a DNA sample.

Vet Parasitol 2021 May 5;296:109443. Epub 2021 May 5.

Department of Pathobiology, Ontario Veterinary College, University of Guelph, 50 Stone Road E, Guelph, Ontario, N1G 2W1, Canada.

DNA-based diagnostic assays for detecting infections with Eimeria species have been limited to providing identification and presence/absence data for samples containing oocysts. Modern technologies that generate quantitative data, such as droplet digital PCR (ddPCR) and Next Generation Sequencing (NGS), utilize a relatively short amplicon size containing sufficient species-specific variation for reliable species level identification. Targeting the cytochrome c oxidase subunit III gene in the mitochondrial genome, we established protocols using these technologies to determine the relative abundance of the number of copies/μL of Eimeria species in a sample. Read More

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Oral delivery of pVAX-OMP and pVAX-hly DNA vaccine using Chitosan-Tripolyphosphate (Cs-TPP) nanoparticles in Rohu, (Labeo rohita) for protection against Aeromonas hydrophila infection.

Fish Shellfish Immunol 2021 Jun 17. Epub 2021 Jun 17.

Aquatic Animal Health Laboratory, Centre for Marine Science and Technology (CMST), Manonmaniam Sundaranar University, Rajakkamangalam, 629502, Tamilnadu, India. Electronic address:

The present study examines the effectiveness of DNA vaccine against Aeromonas hydrophila through oral route using chitosan-tripolyphosphate (Cs-TPP) nanoparticles encapsulation. The virulent gene of outer membrane protein (OMP) and hemolysin (hly) related to pathogenicity of A. hydrophila was used to construct a DNA vaccine using pVAX1, and the construct was named as pVAX-OMP and pVAX-hly DNA vaccines. Read More

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Novel anaplastic thyroid cancer PDXs and cell lines: Expanding preclinical models of genetic diversity.

J Clin Endocrinol Metab 2021 Jun 19. Epub 2021 Jun 19.

Departments of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX.

Background: Anaplastic thyroid cancer (ATC) is a rare, aggressive, and deadly disease. Robust pre-clinical thyroid cancer models are needed to adequately develop and study novel therapeutic agents. Patient-derived xenograft (PDX) models may resemble patient tumors by recapitulating key genetic alterations and gene expression patterns, making them excellent pre-clinical models for drug response evaluation. Read More

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Plausible role of chitosan in drug and gene delivery against resistant breast cancer cells.

Carbohydr Res 2021 Jun 4;506:108357. Epub 2021 Jun 4.

Department of Pharmaceutics, Dr. D.Y. Patil Institute of Pharmaceutical Science & Research, Pimpri, Pune, 411018, Maharashtra, India. Electronic address:

Breast cancer is the highest global spread of invasive cancer in women. While significant progress has been made in breast cancer, diagnostic and therapeutic effective prevention and treatment options remain scarce. Concerning chitosan-based chemotherapeutic therapies, the studies reported cell migration resistance, improved drug absorption, membrane interaction and permeability, immune stimulating behavior, and extended in-vitro drug release. Read More

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Long-term effects of fecal microbiota transplantation (FMT) in patients with irritable bowel syndrome.

Neurogastroenterol Motil 2021 Jun 18:e14200. Epub 2021 Jun 18.

Department of Clinical Medicine, University of Bergen, Bergen, Norway.

Background: We recently found fecal microbiota transplantation (FMT) in irritable bowel syndrome (IBS) patients to be an effective and safe treatment after 3 months. The present follow-up study investigated the efficacy and safety of FMT at 1 year after treatment.

Methods: This study included 77 of the 91 IBS patients who had responded to FMT in our previous study. Read More

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Pharmacoepigenomics circuits induced by a novel retinoid-polyamine conjugate in human immortalized keratinocytes.

Pharmacogenomics J 2021 Jun 18. Epub 2021 Jun 18.

Department of Biochemistry, School of Medicine, University of Patras, Patras, Greece.

Retinoids are widely used in diseases spanning from dermatological lesions to cancer, but exhibit severe adverse effects. A novel all-trans-Retinoic Acid (atRA)-spermine conjugate (termed RASP) has shown previously optimal in vitro and in vivo anti-inflammatory and anticancer efficacy, with undetectable teratogenic and toxic side-effects. To get insights, we treated HaCaT cells which resemble human epidermis with IC concentration of RASP and analyzed their miRNA expression profile. Read More

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A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.

NPJ Precis Oncol 2021 Jun 18;5(1):55. Epub 2021 Jun 18.

Danish Cancer Society Research Center, Copenhagen, Denmark.

PARP inhibitors are approved for the treatment of solid tumor types that frequently harbor alterations in the key homologous recombination (HR) genes, BRCA1/2. Other tumor types, such as lung cancer, may also be HR deficient, but the frequency of such cases is less well characterized. Specific DNA aberration profiles (mutational signatures) are induced by homologous recombination deficiency (HRD) and their presence can be used to assess the presence or absence of HR deficiency in a given tumor biopsy even in the absence of an observed alteration of an HR gene. Read More

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Standardization of a SNP panel for parentage verification and identification in the domestic cat (Felis silvestris catus).

Anim Genet 2021 Jun 18. Epub 2021 Jun 18.

Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO, 65211, USA.

The domestic cat (Felis silvestris catus) is a valued companion animal throughout the world. Over 60 different cat breeds are accepted for competition by the cat fancy registries in different countries. Genetic markers, including short tandem repeats and SNPs, are available to evaluate and manage levels of inbreeding and genetic diversity, population and breed structure relationships, and individual identification for forensic and registration purposes. Read More

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Resource profile and user guide of the Polygenic Index Repository.

Nat Hum Behav 2021 Jun 17. Epub 2021 Jun 17.

McCourt School of Public Policy, Georgetown University, Washington, DC, USA.

Polygenic indexes (PGIs) are DNA-based predictors. Their value for research in many scientific disciplines is growing rapidly. As a resource for researchers, we used a consistent methodology to construct PGIs for 47 phenotypes in 11 datasets. Read More

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Williams syndrome.

Nat Rev Dis Primers 2021 Jun 17;7(1):42. Epub 2021 Jun 17.

Department of Paediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS and leads to the loss of one copy of 25-27 genes on chromosome 7q11. Read More

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Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung.

Am J Surg Pathol 2021 Jun 17. Epub 2021 Jun 17.

State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine Departments of Molecular Diagnostics Pathology, Sun Yat-Sen University Cancer Center Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.

Fetal adenocarcinoma of the lung (FLAC) is a rare lung tumor classified into low-grade fetal adenocarcinoma of the lung (LG-FLAC) and high-grade fetal adenocarcinoma of the lung (HG-FLAC). It remains debatable whether HG-FLAC is a subset of FLAC or a distinct subtype of the conventional lung adenocarcinoma (CLA). In this study, samples of 4 LG-FLAC and 2 HG-FLAC cases were examined, and the clinicopathologic, immunohistochemical (IHC), and mutational differences between the 2 subtypes were analyzed using literature review. Read More

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Transcriptomics Analysis Uncovers Transient Ceftazidime Tolerance in Biofilms.

ACS Infect Dis 2021 Jun 17. Epub 2021 Jun 17.

Department of Biochemistry, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.

is an etiological agent of melioidosis, a severe community-acquired infectious disease. strain K96243 is sensitive to the drug ceftazidime (CAZ), but has been shown to exhibit transient CAZ tolerance when in a biofilm form. To investigate an observed shift in gene expression profile during CAZ tolerance condition and to better understand the mechanistic aspects of this transient tolerance, RNA-sequencing was performed on K96243 from the following three states: planktonic, biofilm, and planktonic shedding. Read More

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Metabolic, immunohistochemical, and genetic profiling of a cerebellar liponeurocytoma with spinal dissemination: a case report and review of the literature.

Brain Tumor Pathol 2021 Jun 17. Epub 2021 Jun 17.

Department of Neurological Surgery, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba-city, Chiba, 260-8670, Japan.

Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. Read More

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A systematic review on the implication of Candida in peri-implantitis.

Int J Implant Dent 2021 Jun 17;7(1):73. Epub 2021 Jun 17.

Department of Stomatology II, University of the Basque Country (UPV/EHU), Barrio Sarriena s/n, 48940, Leioa, Vizcaya, Spain.

Background: Candida is a heterogeneous fungal genus. Subgingival sulcus is a refuge for Candida, which has already been related to the pathogenic inflammation of periodontitis. This work aims to review the presence of Candida in the sulcular fluid surrounding dental implants and discuss its potential role in peri-implantitis. Read More

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Flavobacterium difficile sp. nov., isolated from a freshwater waterfall.

Arch Microbiol 2021 Jun 16. Epub 2021 Jun 16.

Department of Marine Biotechnology, National Kaohsiung University of Science and Technology, No. 142, Hai-Chuan Rd. Nan-Tzu, Kaohsiung City, 811, Taiwan.

A bacterial strain designated KDG-16 is isolated from a freshwater waterfall in Taiwan and characterized to determine its taxonomic affiliation. Cells of strain KDG-16 are Gram-stain-negative, strictly aerobic, motile by gliding, rod-shaped and form light yellow colonies. Optimal growth occurs at 20-25 °C, pH 6-7, and with 0% NaCl. Read More

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(Nees) Engl. resin extracts induce phase-I cytochrome P450 2C8, 2C9, 2C19, and 3A4 isoenzyme expressions in human hepatocellular carcinoma (HepG2) cells.

Saudi Pharm J 2021 May 1;29(5):361-368. Epub 2021 Apr 1.

Cell and Gene Therapy Group, Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

(Nees) Engl. () resin is the most Middle Eastern herbal medicine used against numerous diseases. After being decocted or macerated, this resin is widely consumed among Saudi Arabian patients who are already under prescribed medication. Read More

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Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China.

J Neurol 2021 Jun 15. Epub 2021 Jun 15.

Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Rd, Changsha, Hunan, People's Republic of China.

Background: Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder. Mitochondrial dysfunction is involved in the complex pathophysiology of ALS; however, the role of mitochondrial DNA (mtDNA) variants in ALS is poorly understood. We aimed to elucidate the role of mtDNA variants in the pathogenesis of ALS. Read More

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The impact of device-assisted therapies on the gut microbiome in Parkinson's disease.

J Neurol 2021 Jun 15. Epub 2021 Jun 15.

Department of Neurogenetics, Faculty of Medicine and Health, Kolling Institute, University of Sydney and Northern Sydney Local Health District, St Leonards, NSW, Australia.

Background: Microbiome feedbacks are proposed to influence Parkinson's disease (PD) pathophysiology. A number of studies have evaluated the impact of oral medication on the gut microbiome (GM) in PD. However, the influence of PD device-assisted therapies (DATs) on the GM remains to be investigated. Read More

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Interaction Between the Intestinal Microbial Community and Transcriptome Profile in Common Carp ( L.).

Front Microbiol 2021 28;12:659602. Epub 2021 May 28.

Key Laboratory of Genetic Breeding and Aquaculture Biology of Freshwater Fishes, Ministry of Agriculture, Freshwater Fisheries Research Center, Chinese Academy of Fishery Sciences, Wuxi, China.

In a previous study, we found that the growth performance of the new strain of Huanghe carp is related to gene expression and bacterial community in the gut. In order to better understand the relationship between the gene expression level and bacterial abundance in the gut, we studied the growth performance, gut bacterial structure, and transcriptome profile in the 4th generation of the new carp strain (selection group) at harvesting time, and compared them with the control line (traditional Huanghe carp). Body weight, depth, width, and length increased 14. Read More

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A Natural Membrane Vesicle Exosome-based Sinomenine Delivery Platform for Hepatic Carcinoma Therapy.

Curr Top Med Chem 2021 Jun 11. Epub 2021 Jun 11.

School of Traditional Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, 510006, China.

Recent evidence has demonstrated that Sinomenine (SIN) exerts antitumor activity in vitro. However, the clinical utility of SIN remains limited mainly because of its poor bioavailability. Exosomes are nanoscale vesicles that play crucial roles in intracellular communications through functionally active substances such as DNA and RNA. Read More

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