Результаты поиска

Characterisation of full-length mitochondrial copies and partial nuclear copies (numts) of the cytochrome b and cytochrome c oxidase subunit I genes of Toxoplasma gondii, Neospora caninum, Hammondia heydorni and Hammondia triffittae (Apicomplexa: Sarcocystidae).

Genomic DNA was extracted from three oocyst isolates of Hammondia triffittae from foxes and two oocyst isolates of Hammondia heydorni from d … he chromosomes of the nuclear genome and to represent nuclear mitochondrial DNA segments (numts) or pseudogenes. In the four species examined, there were no nucleotide differences between the full-length mitochondrial copies of cytb and cox1 and their various incomplete nuclear counterparts. With a few exceptions, identical numt types and closely similar flan …

Obstacles to Early Diagnosis of Gaucher Disease.

Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. Patients may present with a wide spectrum of disease manifestations, including hepatosplenomegaly, thrombocytopenia, bone manifestations, and in the case of GD types 2 and 3, neurodegeneration, cognitive delay, and/or oculomotor abnormalities. While there is no treatment for neuronopathic GD, non-neuronopathic manifestations can be efficiently managed with enzyme replacement therapy or substrate reduction therapy. Howeve

Генетическая основа болезни.

Генетика в той или иной степени играет определенную роль во всех заболеваниях. Изменения в нашей ДНК и различия в том, как эта ДНК функционирует (одиночка или комбинация), наряду с окружающей средой (которая включает образ жизни), способствуют болезнетворным процессам. В рамках этого обзора изучается генетическая основа человеческих заболеваний, включая однородные генетические расстройства, хромосомные диспропорции, эпигенетические, раковые и сложные расстройства, и рассматривается вопрос о том, каким образом наше понимание и технологические достижения могут быть использованы для обеспечения н

Совпадение в полном тексте источника
… The human genome also contains over 14000 ‘pseudogenes’; these are imperfect copies of protein-coding genes that have lost the ability to code for protein. … Furthermore, some pseudogenes have the potential to be harnessed in gene therapy to generate functional genes by gene editing approaches. …

Clinical analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series.

This study aimed to investigate the clinical features and potential pathogenesis of lymphoma complicated with malignant solid tumors. Clinical data from 35 patients treated at Yantai Yuhuangding Hospital between January 2018 and March 2023 were retrospectively analyzed. Among 1726 lymphoma patients, 35 (2.03%) were found to have solid tumors, including 22 males and 13 females, with a median age of 62 years (range: 49-83 years). The lymphoma subtypes included 14 cases of diffuse large B-cell lymphoma (DLBCL), 8 cases of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), 7 cases

Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

Совпадение в полном тексте источника
… Next, sequence context such as high GC-content (e.g., in promoter regions) and repetitive and complex genomic regions (e.g., pseudogenes) can result in lower coverage and misalignment, respectively. … STRC testing is complicated by the presence of a nearby pseudogene which is non-functional but contains nearly identical sequence information. To overcome this challenge, the STRC locus needs to be PCR amplified before sequencing analysis can be performed ( 113 ). …

Targeting Autophagy Using Long Non-Coding RNAs (LncRNAs): New Landscapes in the Arena of Cancer Therapeutics.

Cancer has become a global health hazard accounting for 10 million deaths in the year 2020. Although different treatment approaches have increased patient overall survival, treatment for advanced stages still suffers from poor clinical outcomes. The ever-increasing prevalence of cancer has led to a reanalysis of cellular and molecular events in the hope to identify and develop a cure for this multigenic disease. Autophagy, an evolutionary conserved catabolic process, eliminates protein aggregates and damaged organelles to maintain cellular homeostasis. Accumulating evidence has implicated the

Integrating Single-Cell Transcriptome and Network Analysis to Characterize the Therapeutic Response of Chronic Myeloid Leukemia.

Chronic myeloid leukemia (CML) is a myeloproliferative disease characterized by a unique BCR-ABL fusion gene. Tyrosine kinase inhibitors (TKIs) were developed to target the BCR-ABL oncoprotein, inhibiting its abnormal kinase activity. TKI treatments have significantly improved CML patient outcomes. However, the patients can develop drug resistance and relapse after therapy discontinues largely due to intratumor heterogeneity. It is critical to understand the differences in therapeutic responses among subpopulations of cells. Single-cell RNA sequencing measures the transcriptome of individual c

Acute Pancreatitis: Genetic Risk and Clinical Implications.

Acute pancreatitis (AP) is one of the most common gastroenterological indications for emergency admittance and hospitalization. Gallstones, alcohol consumption or the presence of additional initiating factors give rise to a disease with a diverse clinical appearance and a hard-to predict course of progression. One major challenge in the treatment of AP patients is the early identification of patients at risk for the development of systemic complications and organ failure. In addition, 20%-30% of patients with a first episode of AP later experience progress to recurrent or chronic disease. Comp

FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy.

BackgroundFifty percent of patients with muscle-invasive bladder cancer (MI-BC) die from their disease and current chemotherapy treatment only marginally increases survival. Novel therapies targeting receptor tyrosine kinases or activated oncogenes may improve outcome. Hence, it is necessary to stratify patients based on mutations in relevant oncogenes. Patients with non-muscle-invasive bladder cancer (NMI-BC) have excellent survival, however two-thirds develop recurrences. Tumor specific mutations can be used to detect recurrences in urine assays, presenting a more patient-friendly diagnostic

The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease.

Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners, supportive care providers, and patients. Phenotype classification and the setting of treatment goals are important for optimizing the management of type I GD, and for providing personalized care. The ability to classify disease severity using validated measurement tools allows the standardization of patient monitoring, and the measurement of diseas

Role of Polymorphisms of NKG2D Receptor and Its Ligands in Acute Myeloid Leukemia and Human Stem Cell Transplantation.

Natural killer cells possess key regulatory function in various malignant diseases, including acute myeloid leukemia. NK cell activity is driven by signals received through ligands binding activating or inhibitory receptors. Their activity towards elimination of transformed or virally infected cells can be mediated through MICA, MICB and ULBP ligands binding the activating receptor NKG2D. Given the efficiency of NK cells, potential target cells developed multiple protecting mechanisms to overcome NK cells killing on various levels of biogenesis of NKG2D ligands. Targeted cells can degrade liga

Совпадение в полном тексте источника
… MIC Family MIC family comprises 7 genes, from which only two are expressed ( MICA and MICB ) and an additional five being considered as pseudogenes ( MICC, MICD, MICE, MICF , and MICG ) ( 41 ). … Six genes of them are expressed ( ULBP1 - 6 ), while 4 are pseudogenes ( 53 ). ULBP1 (RAET1I), ULBP2 (RAET1H), ULBP3 (RAET1N), ULBP4 (RAET1E) and ULBP6 (RAET1L) have 4 exons while ULBP5 (RAET1G) comprises 5 exons. …

The Biogenesis and Functions of piRNAs in Human Diseases.

Piwi-interacting RNAs (piRNAs) are a novel type of small noncoding RNAs, which are 26-30 nt in length and bind to Piwi proteins. These short RNAs were originally discovered in germline cells and are considered as key regulators for germline maintenance. A growing body of evidence has now extended our views into piRNA biological significance showing that they can also regulate gene expression in somatic cells through transposon silencing, epigenetic programming, DNA rearrangements, mRNA turnover, and translational control. Mounting studies have revealed that the dysregulation of piRNAs may caus

Profile of eliglustat tartrate in the management of Gaucher disease.

Gaucher disease (GD) is a lysosomal storage disorder caused by the deficient activity of acid beta glucosidase, with consequent accumulation of glucosylceramide in the spleen, liver, bone marrow, and various organs and tissues. Currently, the gold standard for GD treatment is enzyme replacement therapy (ERT). The efficacy of ERT in improving or stabilizing the visceral and hematological symptoms of GD is well-proven. However, since ERT has to be administered by frequent intravenous infusions, this therapeutic approach has an important impact on the patient's quality of life. Eliglustat tartrat

Noncoding RNAs improve the predictive power of network medicine.

Network medicine has improved the mechanistic understanding of disease, offering quantitative insights into disease mechanisms, comorbidities, and novel diagnostic tools and therapeutic treatments. Yet, most network-based approaches rely on a comprehensive map of protein-protein interactions (PPI), ignoring interactions mediated by noncoding RNAs (ncRNAs). Here, we systematically combine experimentally confirmed binding interactions mediated by ncRNA with PPI, constructing a comprehensive network of all physical interactions in the human cell. We find that the inclusion of ncRNA expands the nu

Совпадение в полном тексте источника
… We begin by constructing two networks: i) the protein–protein interaction (PPI network), which contains 536,965 interactions between 18,217 protein-coding genes, and ii) the joint PPI & NCI network, which has 26,575 genes [18,358 coding, 2,134 lncRNA, 1,650 miRNAs, 3,429 pseudogenes and 1004 other ncRNAs … In summary, we find that miRNAs are responsible for the majority of the noncoding interactions with protein-coding genes, TFs, and pseudogenes, as well as 40% of the lncRNAs interactions ( Fig. 1 E ), confirming the central role miRNAs play in the regulation of the underlying cellular network. …

A comprehensive tool for tumor precision medicine with pharmaco-omics data analysis.

Background: Cancer precision medicine is an effective strategy to fight cancers by bridging genomics and drug discovery to provide specific treatment for patients with different genetic characteristics. Although some public databases and modelling frameworks have been developed through studies on drug response, most of them only considered the ramifications of the drug on the cell line and the effects on the patient still require a huge amount of work to integrate data from various databases and calculations, especially concerning precision treatment. Furthermore, not only efficacy but also th

Совпадение в полном тексте источника
… After removing 18 pseudogenes, we retained 12,310 expressed genes and their expression under various conditions from CMap. …

The Role of Long Non-Coding RNA and microRNA Networks in Hepatocellular Carcinoma and Its Tumor Microenvironment.

Hepatocellular carcinoma (HCC) is a common liver malignancy with high morbidity and poor prognosis. Long non-coding RNAs (lncRNAs) are involved in crucial biological processes of tumorigenesis and progression, and play four major regulatory roles, namely signal, decoy, guide, and scaffold, to regulate gene expression. Through these processes, lncRNAs can target microRNAs (miRNAs) to form lncRNA and miRNA networks, which regulate cancer cell proliferation, metastasis, drug resistance, and the tumor microenvironment. Here, we summarize the multifaceted functions of lncRNA and miRNA networks in t

Genome-scale analysis to identify prognostic markers in patients with early-stage pancreatic ductal adenocarcinoma after pancreaticoduodenectomy.

BackgroundMolecular analysis is a promising source of clinically useful prognostic biomarkers. The aim of this investigation was to identify prognostic biomarkers for patients with early-stage pancreatic ductal adenocarcinoma (PDAC) after pancreaticoduodenectomy.MethodsAn RNA sequencing dataset of PDAC was obtained from The Cancer Genome Atlas. Survival analysis and weighted gene co-expression network analysis were used to investigate the prognostic markers of early-stage PDAC after pancreaticoduodenectomy.ResultsUsing whole genome expression level screening, we identified 1,238 markers that w

The role and mechanisms of action of microRNAs in cancer drug resistance.

MicroRNAs (miRNAs) are small non-coding RNAs with a length of about 19-25 nt, which can regulate various target genes and are thus involved in the regulation of a variety of biological and pathological processes, including the formation and development of cancer. Drug resistance in cancer chemotherapy is one of the main obstacles to curing this malignant disease. Statistical data indicate that over 90% of the mortality of patients with cancer is related to drug resistance. Drug resistance of cancer chemotherapy can be caused by many mechanisms, such as decreased antitumor drug uptake, modified

Совпадение в полном тексте источника
… The hypothesis suggested that besides mRNA, sequences of pseudogenes, long non-coding ribonucleic acids (lncRNAs), and circular RNAs (circRNAs) contain miRNA response elements (MREs), and they would compete for limited pools of miRNAs as decoys, similar to “miRNA sponges,” thereby reducing the binding … PTENP1 is a pseudogene of the PTEN tumor suppression gene ( TSG ), and its mRNA sequence, close to the 3′-UTR, is highly homologous to the same region in PTEN . This feature of PTENP1 shows that it can be used as a ceRNA of PTEN . …

Изучение общих генных сигнатур и механизмов между тремя аутоиммунными заболеваниями по массовому секвенированию РНК в сочетании с последовательности одноклеточного РНК.

ВАЖНЕЙШАЯ ИНФОРМАЦИЯ: Появляющиеся данные подчеркивают наличие механизмов коморбидности среди аутоиммунных заболеваний (АИД), при этом инновационные технологии, такие, как секвенирование РНК в одной клетке (scRNA-seq), значительно улучшают разведку в этой области. Цель этого исследования заключалась в изучении общих генов трех AID-Multiple Sclerosis (MS), Systemic Lupus Erythematosus (SLE) и Rheumatoid Artritis (RA) с использованием баз данных биоинформатики, а также в выявлении потенциальных биомаркеров для ранней диагностики. Мы извлекли стеноскопические данные о пациентах MS, SLE и RA из об

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the