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Zhurnal Nevrologii I Psikhiatrii Imeni... 2019The authors present a case-report of Segawa's syndrome. Clinical characteristics, genetic background and treatment options with special emphasis on a differential...
The authors present a case-report of Segawa's syndrome. Clinical characteristics, genetic background and treatment options with special emphasis on a differential diagnosis are discussed.
Topics: Diagnosis, Differential; Dystonic Disorders; Humans; Syndrome
PubMed: 31156223
DOI: 10.17116/jnevro201911904155 -
Seminars in Immunopathology May 2013
Topics: Disease; Humans; Unfolded Protein Response
PubMed: 23609501
DOI: 10.1007/s00281-013-0379-3 -
American Journal of Human Genetics Jan 2019
Topics: Disease; Epidemiology; Prevalence
PubMed: 30609405
DOI: 10.1016/j.ajhg.2018.11.011 -
Scientific Reports Jan 2017Diseases are developed by abnormal behavior of genes in biological events such as gene regulation, mutation, phosphorylation, and epigenetics and post-translational...
Diseases are developed by abnormal behavior of genes in biological events such as gene regulation, mutation, phosphorylation, and epigenetics and post-translational modification. Many studies of text mining attempted to identify the relationship between gene and disease by mining the literature, but they did not consider the biological events in which genes show abnormal behaviour in response to diseases. In this study, we propose to identify disease-related genes that are involved in the development of disease through biological events from Medline abstracts. We identified associations between 13,054 genes and 4,494 disease types, which cover more disease-related genes than manually curated databases for all disease types (e.g., Online Mendelian Inheritance in Man) and also than those for specific diseases (e.g., Alzheimer's disease and hypertension). We show that the text mining findings are reliable, as per the PubMed scale, in that the disease-disease relationships inferred from the literature-wide findings are similar to those inferred from manually curated databases in a well-known study. In addition, literature-wide distribution of biological events across disease types reveals different characteristics of disease types.
Topics: Data Mining; Disease; Genetic Association Studies; Humans; MEDLINE
PubMed: 28054646
DOI: 10.1038/srep40154 -
Experimental Cell Research Nov 2014DNA replication is a fundamental process of the cell that ensures accurate duplication of the genetic information and subsequent transfer to daughter cells. Various... (Review)
Review
DNA replication is a fundamental process of the cell that ensures accurate duplication of the genetic information and subsequent transfer to daughter cells. Various pertubations, originating from endogenous or exogenous sources, can interfere with proper progression and completion of the replication process, thus threatening genome integrity. Coordinated regulation of replication and the DNA damage response is therefore fundamental to counteract these challenges and ensure accurate synthesis of the genetic material under conditions of replication stress. In this review, we summarize the main sources of replication stress and the DNA damage signaling pathways that are activated in order to preserve genome integrity during DNA replication. We also discuss the association of replication stress and DNA damage in human disease and future perspectives in the field.
Topics: Animals; DNA Damage; DNA Replication; Disease; Genomic Instability; Humans
PubMed: 25281304
DOI: 10.1016/j.yexcr.2014.09.030 -
Free Radical Research Aug 2021
Topics: Disease; Humans; Oxidative Stress
PubMed: 34665986
DOI: 10.1080/10715762.2021.1991083 -
Seminars in Cell & Developmental Biology Aug 2015Epigenetic variation, a stable alteration in gene expression, occurs at multiple moments during development. Several instances of non-Mendelian transmission to the... (Review)
Review
Epigenetic variation, a stable alteration in gene expression, occurs at multiple moments during development. Several instances of non-Mendelian transmission to the progenies modes are very intriguing. Studies of the mode of hereditary transmission revealed in a series of such cases a role of noncoding RNA molecules as inducers. While still an enigmatic mechanism, emerging models pinpoint to a more general roles of these variations, initiated as a response to genetic and environmental variation. Here we compare the known modes of transgenerational epigenetic variation in mice and humans.
Topics: Animals; Disease; Epigenesis, Genetic; Heredity; Humans; Mutation; RNA, Untranslated
PubMed: 26335266
DOI: 10.1016/j.semcdb.2015.08.007 -
Current Opinion in Immunology Feb 2020Recognition of invading pathogens and execution of defensive responses are crucial steps in successfully combating infectious diseases. Inflammasomes are a group of... (Review)
Review
Recognition of invading pathogens and execution of defensive responses are crucial steps in successfully combating infectious diseases. Inflammasomes are a group of diverse, signal-transducing complexes with key roles in both processes. While the responses mediated by inflammasomes are vital to host defense, aberrations in inflammasome regulation or activity can lead to the development of autoimmune and sterile inflammatory diseases, including cancer. The field of inflammasome research has rapidly expanded to identify novel regulatory pathways, new inflammasome components, and the mechanistic details of the activation of these complexes. In this review, we discuss recent insights into the regulation of inflammasomes by interferon regulatory factor proteins, newly discovered mechanisms of activation for the NLRP1b and NLRP6 inflammasomes, and recent studies exploring the viability of inflammasome-modulating immunotherapies.
Topics: Animals; Disease; Humans; Inflammasomes
PubMed: 31837596
DOI: 10.1016/j.coi.2019.11.007 -
International Journal of Molecular... Mar 2018The rising interest in human induced pluripotent stem cell (hiPSC)-derived organoid culture has stemmed from the manipulation of various combinations of directed... (Review)
Review
The rising interest in human induced pluripotent stem cell (hiPSC)-derived organoid culture has stemmed from the manipulation of various combinations of directed multi-lineage differentiation and morphogenetic processes that mimic organogenesis. Organoids are three-dimensional (3D) structures that are comprised of multiple cell types, self-organized to recapitulate embryonic and tissue development in vitro. This model has been shown to be superior to conventional two-dimensional (2D) cell culture methods in mirroring functionality, architecture, and geometric features of tissues seen in vivo. This review serves to highlight recent advances in the 3D organoid technology for use in modeling complex hereditary diseases, cancer, host-microbe interactions, and possible use in translational and personalized medicine where organoid cultures were used to uncover diagnostic biomarkers for early disease detection via high throughput pharmaceutical screening. In addition, this review also aims to discuss the advantages and shortcomings of utilizing organoids in disease modeling. In summary, studying human diseases using hiPSC-derived organoids may better illustrate the processes involved due to similarities in the architecture and microenvironment present in an organoid, which also allows drug responses to be properly recapitulated in vitro.
Topics: Disease; Humans; Induced Pluripotent Stem Cells; Models, Biological; Organ Specificity; Organoids
PubMed: 29561796
DOI: 10.3390/ijms19040936 -
Current Opinion in Obstetrics &... Apr 2008Human epidemiological and animal studies show that many chronic adult conditions have their antecedents in compromised fetal and early postnatal development.... (Review)
Review
PURPOSE OF REVIEW
Human epidemiological and animal studies show that many chronic adult conditions have their antecedents in compromised fetal and early postnatal development. Developmental programming is defined as the response by the developing mammalian organism to a specific challenge during a critical time window that alters the trajectory of development with resulting persistent effects on phenotype. Mammals pass more biological milestones before birth than any other time in their lives. Each individual's phenotype is influenced by the developmental environment as much as their genes. A better understanding is required of gene-environment interactions leading to adult disease.
RECENT FINDINGS
During development, there are critical periods of vulnerability to suboptimal conditions when programming may permanently modify disease susceptibility. Programming involves structural changes in important organs; altered cell number, imbalance in distribution of different cell types within the organ, and altered blood supply or receptor numbers. Compensatory efforts by the fetus may carry a price. Effects of programming may pass across generations by mechanisms that do not necessarily involve structural gene changes. Programming often has different effects in males and females.
SUMMARY
Developmental programming shows that epigenetic factors play major roles in development of phenotype and predisposition to disease in later life.
Topics: Adult; Animals; Disease; Female; Fetal Development; Human Development; Humans; Male; Phenotype; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 18388812
DOI: 10.1097/GCO.0b013e3282f76753