Результаты поиска

Эпигенетические достижения в педиатрическом многоразовом склерозе: ДНК-метилирование примечательно участие Эпштейна-Барра заражённых вирусом и принимающих иммунных сетей.

СПРАВОЧНАЯ ИНФОРМАЦИЯ И ЦЕЛИ: Педиатрический множественный склероз (PedMS) предоставляет уникальную возможность для изучения патогенеза MS с учетом короткого интервала между воздействием на окружающую среду и возникновением заболеваний. Цель этого исследования состояла в том, чтобы выявить различные метилированные регионы (ДМР), которые способствуют взаимодействию между экологическими факторами и геномными факторами на ранних этапах заболевания. В этом многоцентровом исследовании мы проанализировали периферическую ДНК крови. 175 Итальянские предметы122 Пациенты педиатрии, 53 - здоровый контрол

Case report: Salivary duct carcinoma in a patient with a germline CDH1 pathogenic variant - expanding the spectrum of hereditary cancer predisposition syndromes.

INTRODUCTION: Recently, an entity known as salivary duct carcinoma with rhabdoid features (SDC-RF) has been associated with somatic CDH1 mutations. Here we present the first known case report of conventional SDC occurring in the setting of a germline CDH1 pathogenic variant accompanied by a somatic loss of heterozygosity at the CDH1 locus. CASE DISCUSSION: A 67-year-old man presented with chest and back pain and was found to have osteolytic lesions in the sternum and lumbar spine. Vertebral bone biopsies were positive for metastatic carcinoma of unknown primary. A molecular profiling assay co

An Analysis Regarding the Association Between Proteasome (PSM) and Hepatocellular Carcinoma (HCC).

BackgroundThe Proteasome (PSM) is a large multi-catalytic protease complex consisting of a 20S core particle and a 19S regulatory particle whose main function is to accept and degrade ubiquitinated substrates, are now considered as one of the potential regulators of tumor proliferation, and stemness maintenance. However, to date, studies on the relationship between PSM and hepatocellular carcinoma (HCC) are limited.MethodsThis study used a bioinformatics approach combining validation experiments to investigate the biological mechanisms that may be related with PSM. A series of experiments in v

Targeting homologous recombination and telomerase in Barrett's adenocarcinoma: impact on telomere maintenance, genomic instability and tumor growth.

Homologous recombination (HR), a mechanism to accurately repair DNA in normal cells, is deregulated in cancer. Elevated/deregulated HR is implicated in genomic instability and telomere maintenance, which are critical lifelines of cancer cells. We have previously shown that HR activity is elevated and significantly contributes to genomic instability in Barrett's esophageal adenocarcinoma (BAC). The purpose of this study was to evaluate therapeutic potential of HR inhibition, alone and in combination with telomerase inhibition, in BAC. We demonstrate that telomerase inhibition in BAC cells incre

Current State of Human Gene Therapy: Approved Products and Vectors.

In the realm of gene therapy, a pivotal moment arrived with Paul Berg's groundbreaking identification of the first recombinant DNA in 1972. This achievement set the stage for future breakthroughs. Conditions once considered undefeatable, like melanoma, pancreatic cancer, and a host of other ailments, are now being addressed at their root cause-the genetic level. Presently, the gene therapy landscape stands adorned with 22 approved in vivo and ex vivo products, including IMLYGIC, LUXTURNA, Zolgensma, Spinraza, Patisiran, and many more. In this comprehensive exploration, we delve into a rich ass

Совпадение в полном тексте источника
… There are various types of bacteriophages with different genome sizes, including 5 Kbp, 49 Kbp, 40 Kbp, and 160 Kbp–250 Kbp. Their small size makes them useful for gene therapy applications that require small vectors [ 89 , 90 , 91 , 92 , 93 , 94 , 95 ]. 3.1.9. …

Clinical application of minimal residual disease detection by ctDNA testing in non-small cell lung cancer: a narrative review.

Background and objectiveIn recent years, significant advancements have been achieved in the treatment of non-small cell lung cancer (NSCLC), leading to prolonged patient survival; however, a subset of NSCLC patients may experience recurrence or distant metastasis following initial successful treatment. This phenomenon may be attributed to the presence of minimal residual disease (MRD) that remains undetectable by conventional imaging or laboratory techniques post-treatment. The potential sources of tumor recurrence (MRD), are significantly associated with adverse patient prognosis; therefore,

Совпадение в полном тексте источника
… The sequencing segment is condensed to 0.004% of the entire genome size, enabling ultra-deep sequencing to accurately detect ctDNA mutations with MAF as low as 0.02%. However, this assay has limitations, as 50% of the genomic positions have errors when the MAF was <0.02%. …

Площадь метилирования ДНК клеток цереброспинальной жидкости в множестве склероза: исследование эпигеномной ассоциации.

Множественный склероз (MS) является хроническим воспалительным заболеванием центральной нервной системы, в которой метилация ДНК может увязывать генетические и экологические факторы риска. Methods: Мы профилировали содержание метилации ДНК по всему геному в клетках цереброспиновой жидкости (CSF) у людей с MS (pwMS) и совпадающими контрольными устройствами. Дифференцированные метилированные позиции (DMP) и регионы (DMR) были интегрированы с транскриптомными данными, аннотациями клеточного хроматина Т и анализом путей. Выражение гамма-протокадерина (ПХДГ) было оценено в первичных подмножествах C

Spontaneous genomic alterations in a chimeric model of colorectal cancer enable metastasis and guide effective combinatorial therapy.

Colon cancer is the second most common cause of cancer mortality in the Western world with metastasis commonly present at the time of diagnosis. Screening for propagation and metastatic behavior in a novel chimeric-mouse colon cancer model, driven by mutant p53 and β-Catenin, led to the identification of a unique, invasive adenocarcinoma. Comparison of the genome of this tumor, CB42, with genomes from non-propagating tumors by array CGH and sequencing revealed an amplicon on chromosome five containing CDK6 and CDK14, and a KRAS mutation, respectively. Single agent small molecule inhibition of

Next generation sequencing: new tools in immunology and hematology.

One of the hallmarks of the adaptive immune system is the specificity of B and T cell receptors. Thanks to somatic recombination, a large repertoire of receptors can be generated within an individual that guarantee the recognition of a vast number of antigens. Monoclonal antibodies have limited applicability, given the high degree of diversity among these receptors, in BCR and TCR monitoring. Furthermore, with regard to cancer, better characterization of complex genomes and the ability to monitor tumor-specific cryptic mutations or translocations are needed to develop better tailored therapies

Изучение связи между 91 циркуляцией воспламенительных протеинов и нейродегенеративными заболеваниями: двухнаправленный анализ менделей и биоинформатики.

Циркуляция подстрекательских белков играет важную роль в патогенезе нейродегенеративных заболеваний (НДД). Однако точная причинно-следственная связь и механизмы, лежащие в основе их взаимодействия, по-прежнему остаются неясными. МЕТОДЫ: В каталоге GWAS были получены данные по 91 циркуляционному подстрекательскому протеину в рамках исследования ассоциации геномов (GWAS). Кроме того, данные GWAS о болезни Паркинсона (PD), болезни Альцгеймера (AD), амиотропическом боковом склерозе (ALS), множественном склерозе (MS) и ишемическом инсульте (IS) были получены в рамках проекта IEU Open GWAS. Для анал

Методы машинного обучения для классификации множественного склероза и болезни Альцгеймера с использованием геномных данных.

Сложные заболевания создают трудности в прогнозировании из-за их многофакторного и полигенного характера. В этом исследовании используется машинное обучение (ML) для анализа геномных данных из британского биобанка с целью прогнозирования геномной предрасположенности к таким сложным болезням, как множественный склероз (MS) и болезнь Альцгеймера (AD). Мы проверили логистическую регрессию (LR), методы ансамбля деревьев и модели глубокого обучения с этой целью. LR продемонстрировал замечательную стабильность в различных поднаборах данных, превосходя глубинные подходы к обучению, которые продемонст

Association of coronary artery disease related single nucleotide-polymorphisms with extreme Prakriti types: Insights from a case control study.

BACKGROUND: Coronary artery disease has well-established genetic variants but identification of susceptible ones is needed. Ayurveda stratifies people phenotypically termed as "Prakriti" to assess the risk. OBJECTIVES: The present research was aimed to identify Prakriti stratified genetic risks for CAD. MATERIAL AND METHODS: Initially, literature search was done using bioinformatics and manual-curation, to identify susceptible SNPs. Further, global-screening-array was performed to evaluate association of these polymorphisms in Prakriti stratified 200 CAD patients and 100 healthy controls. Th

Engineering precision nanoparticles for drug delivery.

In recent years, the development of nanoparticles has expanded into a broad range of clinical applications. Nanoparticles have been developed to overcome the limitations of free therapeutics and navigate biological barriers - systemic, microenvironmental and cellular - that are heterogeneous across patient populations and diseases. Overcoming this patient heterogeneity has also been accomplished through precision therapeutics, in which personalized interventions have enhanced therapeutic efficacy. However, nanoparticle development continues to focus on optimizing delivery platforms with a one-

Perspective: Does personalized medicine hold the future for medicine?

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

Молекулярные биомаркеры, связанные с ATLL и HAM HTLV-1 Инфицирование: систематический обзор.

Тип вируса человека T-лимфотроп 1 (В тыс.HTLV-1) инфекционные вещества five в адрес 10 million по всему миру, хотя только у меньшинства возникают серьезные последствия, такие, как лейкемия/лимфома взрослых Т-клеток (ATLL) или HTLV-1-associated Миэлопатия (HAM). Несмотря на широкое использование доказательственной нагрузки (ПВН), она характеризуется ограниченной чувствительностью и специфичностью, что усиливает потребность в дополнительных биомаркерах. В качестве перспективных инструментов для совершенствования прогнозирования рисков стали использоваться подходы, основанные на использовании оми

Allele-specific vitamin D receptor binding is associated with pediatric-onset multiple sclerosis.

BACKGROUND AND OBJECTIVES: The genetic basis of adult-onset multiple sclerosis (MS) is well-studied, but less is known about pediatric-onset MS (pedMS), comprising approximately 5% of all MS onsets. Mendelian randomization (MR) studies have demonstrated evidence for a causal association between MS and both 25-hydroxyvitamin D [25(OH)D] serum levels and genetic variation related to vitamin D receptor (VDR) binding. The objective was to identify whether VDR binding variants (VDR-BVs) previously implicated in adult-onset MS were associated with pedMS using genetic instrumental variables (GIVs).

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

BACKGROUND: Comprehensive next-generation sequencing is widely used for precision oncology and precision prevention approaches. We aimed to determine the yield of actionable gene variants, the capacity to uncover hereditary predisposition and liquid biopsy appropriateness instead of, or in addition to, tumor tissue analysis, in a real-world cohort of cancer patients, who may benefit the most from comprehensive genomic profiling. METHODS: Seventy-eight matched germline/tumor tissue/liquid biopsy DNA and RNA samples were profiled using the Hereditary Cancer Panel (germline) and the TruSight Onc

Оценка причинно-следственного воздействия метаболомы на риск психических и нейродегенеративных расстройств.

Данные свидетельствуют о фенотипическом и биологическом переплетении между психическими и нейродегенеративными расстройствами. Дальнейшее выявление лежащих в основе взаимных и уникальных биологических механизмов может привести к появлению новых, многопорядковых и многопорядковых терапевтических целей. Метаболом представляет собой важную область для идентификации целей, поскольку метаболиты играют важнейшую роль в модуляции разнообразных биологических процессов.Мы использовали менделианскую случайность (MR) для проверки причинного воздействия ~ 1000 плазменных метаболитов и ~ 300 метаболитов на

Mutation profile and chromosomal abnormality in adenomyosis.

In briefBy tissue-selective next-generation sequencing, we showed that adenomyotic epithelium harbored genomic alterations thought to be relevant to the development and progression of adenomyosis, including somatic mutations in several cancer-associated genes with high mutant allele frequencies and the gain of chromosome 1q. Clonal relationships among multiple adenomyotic lesions and the normal uterine endometrium delineate the oligoclonal origin of adenomyosis and the spatial expansion of mutant clones.AbstractTo identify the distinctive features of mutation profiles in adenomyosis compared t

Precision in Action: The Role of Clustered Regularly Interspaced Short Palindromic Repeats/Cas in Gene Therapies.

Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)-associated enzyme-CAS holds great promise for treating many uncured human diseases and illnesses by precisely correcting harmful point mutations and disrupting disease-causing genes. The recent Food and Drug Association (FDA) approval of the first CRISPR-based gene therapy for sickle cell anemia marks the beginning of a new era in gene editing. However, delivering CRISPR specifically into diseased cells in vivo is a significant challenge and an area of intense research. The identification of new CRISPR/Cas variants, particularly