• According to the researchers, gene transfer into specific cell lineages in vivo remains an attractive yet elusive approach for correcting inherited mutations. (sciencedaily.com)
  • Previous studies indicate that mutations in signaling (e.g., receptor tyrosine kinases and RAS pathway members) and transcription factor genes are more common in secondary acute myeloid leukemia (sAML) than myelodysplastic syndrome (MDS), suggesting a role in disease progression. (confex.com)
  • Defining the role of signaling gene mutations during progression should provide biologic insight into clonal evolution and help define prognostic markers for MDS progression. (confex.com)
  • Additionally, error-corrected sequencing for all sAML RMG mutations, plus 40 additional genes, was performed on 43 of the MDS samples. (confex.com)
  • This was significantly less than the percentage of sAML transcription factor gene mutations present at MDS (17 of 23, 74%, p=0.006). (confex.com)
  • We used eWGS data to define clonal hierarchies for 12 patients, and found that both signaling and transcription factor gene mutations were in subclones (9 of 9, and 7 of 8 clones, respectively), with signaling gene mutations occurring as terminal events during clonal evolution. (confex.com)
  • Finally, 8 of 9 subclones with signaling gene mutations expanded at progression. (confex.com)
  • 1% VAF) signaling gene mutations were present in MDS samples. (confex.com)
  • Combined with sAML-defined signaling genes, 33 total signaling gene mutations were detected at MDS in 19 patients, but only 11 (33%) were present after progression. (confex.com)
  • Consequences of epigenetic gene mutations on cardiovascular disease progression and therapeutic implications. (escardio.org)
  • Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. (nih.gov)
  • Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. (nih.gov)
  • Luxturna is the first gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene. (scientificamerican.com)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • [ 7 ] In 1991, mutations in the gene CYP27A1 were discovered as causative. (medscape.com)
  • Researchers at the Stanford University School of Medicine and six other institutions have designed a new diagnostic tool for a rare and deadly autoimmune disease that affects the skin and internal organs. (stanford.edu)
  • By measuring the activity of genes in tiny skin samples, the researchers were able to predict disease progression in patients as much as a year earlier than clinicians who used standard methods for evaluating patients. (stanford.edu)
  • The researchers were able to use these gene-expression patterns as the basis for a test, which they called the SSc Skin Severity Score, or 4S. (stanford.edu)
  • Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia. (universityofcalifornia.edu)
  • As a result, researchers will use gene therapy in which a harmless adeno-associated virus (AAV2) is modified to carry the BDNF gene and injected directly into targeted regions of the brain, where researchers hope it will prompt production of therapeutic BDNF in nearby cells. (universityofcalifornia.edu)
  • Researchers have discovered a new gene therapy that may prevent the progression of emphysema. (sciencedaily.com)
  • Using mice, the BUSM researchers discovered a system to deliver genes selectively to as many as 70 percent of a mouse lung's alveolar macrophages (AM), a key cell type contributing to emphysema. (sciencedaily.com)
  • According to the researchers after 24 weeks of sustained gene expression, no humoral or cellular immune responses to the human hAAT protein were detected. (sciencedaily.com)
  • In one new study, published yesterday in Proceedings of the National Academy of Sciences, a team led by University of California, San Francisco researchers discovered specific gut microbes connected to MS in patients, demonstrating that these microbes engage in regulating immune responses in mouse disease models and suggesting that the microbes play a role in the neurodegeneration inherent in MS. (genomeweb.com)
  • He said the five years of data collected by the Curing Alzheimer's Health Consortium initiative at the State University of New York would help researchers working to slow the progression of Alzheimer disease, the Associated Press reported. (healthday.com)
  • Overall, these studies document a new property of a very common antibiotic and demonstrate that beta-lactams can activate the gene for a neurotransmitter transporter, the researchers write in Nature. (webwire.com)
  • Researchers tracked down a handful of previously unappreciated susceptibility genes using exome sequences for more than 244,000 European women with or without breast cancer. (genomeweb.com)
  • Since identical twins (monozygotic) share the same genetic material, twin studies help researchers understand which traits are due to genes and which are the result of environmental factors. (medicalnewstoday.com)
  • For the first time ever, researchers have identified a genetic variant that may help predict faster symptom progression - and thus, more rapid declines in mobility and independence - in people with multiple sclerosis (MS) . (everydayhealth.com)
  • In a study involving more than 22,000 people with MS , published on June 28 in the journal Nature , the international team of researchers found that the variant is located between two genes - DYSF and ZNF638. (everydayhealth.com)
  • Although neither of the affected genes has been linked with MS, DYSF plays a role in the repair damaged cells, while ZNF638 assists in the body's response to viral infections, according to the researchers. (everydayhealth.com)
  • The researchers have successfully identified five new genes responsible for the development of the plant's architecture. (europa.eu)
  • Studies like the one described above help researchers understand disease progression and could eventually lead to advances in detection and treatment. (aacr.org)
  • Researchers are making great strides toward developing gene-based strategies to treat a variety of inherited neurometabolic diseases characterized by severe neurological involvement. (news-medical.net)
  • In a recent clinical trial, a gene therapy to treat cerebral adrenoleukodystrophy (CALD) -- a neurodegenerative disease that typically claims young boys' lives within 10 years of diagnosis -- effectively stabilized the disease's progression in 88 percent of patients, researchers from the Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Massachusetts General Hospital report today. (news-medical.net)
  • Researchers at the Mount Sinai Center for Transformative Disease Modeling have released a groundbreaking study identifying 4,749 key gene clusters, termed "prognostic modules," that significantly influence the progression of 32 different types of cancer. (news-medical.net)
  • Two young researchers, with their sights set on better understanding the disease mechanisms behind age-related illnesses, were each awarded a 6 million SEK starting grant, allowing them to establish themselves as independent researchers in Sweden and advance their research forward. (lu.se)
  • This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. (nih.gov)
  • This gene encodes one of the mitochondrial translation elongation factors. (nih.gov)
  • The authors demonstrated that ceftriaxone, a beta-lactam antibiotic, turns on a gene that encodes for the glutamate transporter GLT-1. (webwire.com)
  • This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. (cancerindex.org)
  • This gene normally encodes for a peroxisomal membrane protein called ALD-P. (ajnr.org)
  • Patients with ABCA4 -related disease have pathogenic variants in the ABCA4 gene which encodes a large, 2273 amino acid photoreceptor-specific transporter involved in the removal of toxic retinoid compounds from photoreceptors [ 20 ]. (nature.com)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • This study, based on the Mendelian randomization approach and using NPY gene variants as instrumental variables to test the link between NPY and CKD progression, is in line with findings indicating that high plasma NPY levels predict an increased risk for renal events and lend support to the hypothesis that NPY is causally involved in renal disease progression . (bvsalud.org)
  • These studies have identified not only several new risk genes for Alzheimer's disease, but also gene variants that protect against it. (sciencedaily.com)
  • Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. (nih.gov)
  • Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. (cancerindex.org)
  • Do disease-associated non-coding variants primarily reside in transcriptional control elements? (nih.gov)
  • Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. (nature.com)
  • In order to meet the grand challenge of human genetics, that is, to understand what causes disease and translate this knowledge to improve health outcomes, we need to know the number and population frequency of disease variants, the magnitude of their effects on phenotype and gene-gene and gene-environment interactions. (nature.com)
  • For monogenic disorders, the genetic architecture is simplified as disease variants are, by definition, highly penetrant and environmental and gene-gene interactions are minimized. (nature.com)
  • Furthermore, this variant affects genes that are active in the CNS, a clear contrast to variants that confer risk, which overwhelmingly affect the immune system. (everydayhealth.com)
  • Using a longitudinal clinical database, the new evidence presented today demonstrates how the functional IL-1 gene variants, shown to influence periodontitis (PD) severity, affect the previously demonstrated association between obesity and PD progression," stated Lynn Doucette-Stamm, Ph.D., Vice President Development and Clinical Operations. (baycitycapital.com)
  • IL-1 gene variants have been previously shown to amplify the detrimental effects of smoking and diabetes on periodontitis severity. (baycitycapital.com)
  • This study provides additional evidence to guide clinical use of IL-1 gene variants, together with other risk factors, to assist dentists in identifying high risk patients who could potentially benefit from more frequent dental cleanings and monitoring to better maintain oral health. (baycitycapital.com)
  • Over the last decade, genetic testing has evolved from examining a few well-defined variants in one or a few genes to the capability to examine much of the human genome using next generation sequencing (NGS). (cdc.gov)
  • For example, for a patient being tested for hereditary hemochromatosis, ordering mutation panels for HFE gene variants is usually a common reactionary practice if iron studies, hemoglobin, and liver enzymes are minimally abnormal. (msdmanuals.com)
  • Oct. 24, 2023 One problem in gene therapy is that not all genes transfer equally well into the target cells. (sciencedaily.com)
  • METHODS: TRIM22 exons three and four were sequenced by Sanger sequencing and single nucleotide polymorphisms were associated with markers of disease progression (CD4+ T-cell count and HIV viral load) and clinical indicators of advanced HIV disease (presence of stunting and chronic diarrhoea). (lu.se)
  • The two published studies used statistical methods to quantify and predict disease progression in Duchenne, drawing from a growing database of more than 1,000 boys with Duchenne that, in total, includes functional assessments at more than 10,000 clinic visits. (globalgenes.org)
  • Human Gene Therapy Methods 23:18-28. (springer.com)
  • Methods: We developed a 46-gene prognostic RNA signature that is based on measuring the expression of CCP genes. (aacrjournals.org)
  • Could gene therapy halt the progression of Alzheimer's disease? (universityofcalifornia.edu)
  • We found that delivering BDNF to the part of the brain that is affected earliest in Alzheimer's disease - the entorhinal cortex and hippocampus - was able to reverse the loss of connections and to protect from ongoing cell degeneration," said Tuszynski. (universityofcalifornia.edu)
  • Alzheimer's disease (AD) is characterized by synaptic failure, dendritic and axonal atrophy, neuronal death and progressive loss of cognitive functions. (springer.com)
  • The APP gene variant protecting against Alzheimer's disease significantly decreases plasma beta-amyloid levels in a population cohort. (sciencedaily.com)
  • This is a very significant discovery, as many on-going drug trials in the field of Alzheimer's disease focus on decreasing beta-amyloid levels in the brain tissue. (sciencedaily.com)
  • New research from the University of Eastern Finland shows that the APP gene variant protecting against Alzheimer's disease significantly decreases plasma beta-amyloid levels in a population cohort. (sciencedaily.com)
  • Alzheimer's disease is a neurodegenerative disease strongly characterised by the accumulation of beta-amyloid in the brain tissue. (sciencedaily.com)
  • Knowledge of the genetic background of Alzheimer's disease is crucial for finding new prevention measures and treatments, and for understanding the cellular level mechanisms of the disease. (sciencedaily.com)
  • Uncovering the genetic pathogenesis of Alzheimer's disease has been a target of great interest over the past few years, and genome-wide mapping studies focusing on risk genes have led to significant advances in the field. (sciencedaily.com)
  • Research groups focusing on Alzheimer's disease and diabetes at the University of Eastern Finland have now show that the APP A673T gene variant, which is a variant in the amyloid precursor protein gene protecting against Alzheimer's disease, leads to an average of 30 per cent decreased levels of the beta-amyloid subtypes 40 and 42. (sciencedaily.com)
  • Several on-going drug trials for Alzheimer's disease focus on decreasing beta-amyloid levels in the brain tissue. (sciencedaily.com)
  • According to the hypothesis, the accumulation of beta-amyloid in the brain plays a key role in Alzheimer's disease. (sciencedaily.com)
  • The findings on the role of the APP A673T gene variant in Alzheimer's disease facilitate the planning of future research. (sciencedaily.com)
  • The e4 version of the APOE gene increases an individual's risk for developing late-onset Alzheimer's disease. (medlineplus.gov)
  • Alzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. (medlineplus.gov)
  • The APOE e4 allele may also be associated with an earlier onset of memory loss and other symptoms compared to individuals with Alzheimer's disease who do not have this allele. (medlineplus.gov)
  • It is not known how the APOE e4 allele is related to the risk of Alzheimer's disease. (medlineplus.gov)
  • A buildup of amyloid plaques may lead to the death of nerve cells (neurons) and the progressive signs and symptoms of Alzheimer's disease. (medlineplus.gov)
  • It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer's disease, not the disease itself. (medlineplus.gov)
  • Not all people with Alzheimer's disease have the APOE e4 allele, and not all people who have this allele will develop the disease. (medlineplus.gov)
  • It is unclear why some people with the APOE e4 allele develop Alzheimer's disease while others develop dementia with Lewy bodies. (medlineplus.gov)
  • We describe the role of allelic polymorphism in the gene coding for the CCR5 chemokine receptor with regard to susceptibility to and disease course of HIV infection. (cdc.gov)
  • Use of large-scale comparative genomic technologies to explore the molecular pathogenesis of chronic infectious diseases and the human genetics of susceptibility and resistance to infection. (drexel.edu)
  • The growing burden of disease including infectious diseases such as HIV and TB as well as non-communicable diseases such as diabetes, cardiovascular disease and cancer, requires understanding the underlying molecular mechanisms of susceptibility, drug response and resistance towards improving health solutions in SSA [ Reference Sirugo 1 ]. (cambridge.org)
  • The possibility of finding these candidates is empowered by the significant impact (effect size) of drug response phenotypes such as adverse drug reactions and treatment outcomes, in contrast to other complex traits such as disease susceptibility and health [ Reference Maranville and Cox 2 ]. (cambridge.org)
  • Gene expression is the process by which cells extract information from genes and render it as molecules of protein or RNA. (stanford.edu)
  • Cells have the capacity to express more or less of each molecule, creating a pattern of expression that changes according to the presence of infections or of autoimmune diseases such as SSc. (stanford.edu)
  • Khatri and his team identified 415 genes whose expression changed in a pattern that indicated how serious a person's SSc had become. (stanford.edu)
  • It was easy to distinguish the gene-expression data related to healthy skin samples from the data for diseased skin samples, said Khatri. (stanford.edu)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Therefore, we developed an expression signature composed of genes involved in cell cycle progression (CCP) and tested its utility in prostate cancer. (aacrjournals.org)
  • The expression score (CCP score) is derived as the normalized mean expression all CCP genes in the signature. (aacrjournals.org)
  • NRL interacts with homeodomain protein CRX and numerous other regulatory factors to control expression of most rod-expressed genes. (nih.gov)
  • How do numerous non-coding variations in the human genome affect gene expression in the retina? (nih.gov)
  • We investigated the expression of immune checkpoints (ICs) on lymphoid populations within the CRC TME and compared with cells from normal colon tissues using samples from 50 patients with varying disease stages. (mdpi.com)
  • A UNIGE team has identified two key genes whose expression influences cancer progression. (unige.ch)
  • A team from the University of Geneva (UNIGE) has succeeded in deciphering one of them by identifying a pair of genes whose expression can accelerate, or slow down, the progression of cancer. (unige.ch)
  • They were thus able to compare them and identify a key parameter governing tumours: the expression of the CXCL9 and SPP1 genes by immune cells known as macrophages. (unige.ch)
  • Furthermore, deleting one copy of miR15a/miR16-1 in mice with multiple myeloma significantly enhanced the aggressiveness of their disease and led to increased expression of genes that promote cellular proliferation. (aacr.org)
  • Consistent with these results, analysis of a genetic dataset of multiple myeloma patients revealed that single-copy deletion of MIR15A/MIR16-1 in patient tumors was associated with increased expression of the same cellular proliferation genes that were upregulated in the mouse experiments. (aacr.org)
  • Herein, we aimed at examining the expression and clinicopathological significance of ARG1 in HCC, together with determining the effect of ARG1 on the progression and metastasis of HCC. (hindawi.com)
  • The tumorigenesis and development of HCC are multistep process, involving an array of gene expression profiles and intracellular signaling pathway dysregulation [ 5 ]. (hindawi.com)
  • In the present study, we aimed to examine the expression and clinicopathological significance of ARG1 in HCC and, furthermore, figure out the role of ARG1 in the progression and metastasis of HCC. (hindawi.com)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • In the last decade, diagnostic and prognostic evaluation has been facilitated by global gene expression profiling (GEP), provid- ing a new powerful means for the classification, prediction of survival, and response to treatment of lym- phomas. (lu.se)
  • The identified transcription factors influence both the global and specific gene expression of the BCLs and have possible implications for diagnosis and treat- ment. (lu.se)
  • Systemic inflammation was measured by whole blood cell gene expression, serum protein profiling and cardiovascular tissue gene expression. (cdc.gov)
  • In the atherosclerotic susceptible apoE-/- mice, analysis of lung gene expression showed increased inflammatory expression in the GMA-SS exposed mice compared to air exposed shams. (cdc.gov)
  • The severity of the inflammatory process has been correlated with the rapidity of disease progression (11) . (ajnr.org)
  • 3) Develop image-based assessment tools for evaluating disease severity and sugar beet growth and development. (usda.gov)
  • Based on their findings, "the genetics of disease severity now suggest that the CNS should be the target of [any] new class of therapeutics," he says. (everydayhealth.com)
  • Disease progression was defined using a combination of change in classification of disease severity based on alveolar bone loss and tooth loss during follow-up. (baycitycapital.com)
  • A previous gene therapy trial from 2001 to 2012 using AAV2 and a different protein called nerve growth factor (NGF) found heightened growth , axonal sprouting and activation of functional markers in the brains of participants. (universityofcalifornia.edu)
  • The BDNF gene therapy trial in AD represents an advance over the earlier NGF trial," said Tuszynski. (universityofcalifornia.edu)
  • Tuszynski said gene therapy, which debuted in 1980 and has been tested on multiple diseases and conditions, represents a different approach to a disease that requires new ways of thinking about the disease and new attempts at treatments. (universityofcalifornia.edu)
  • We hope to build on recent successes of gene therapy in other diseases, including a breakthrough success in the treatment of congenital weakness in infants (spinal muscular atrophy) and blindness (Leber Hereditary Optic Neuropathy, a form of retinitis pigmentosa)," Tuszynski said. (universityofcalifornia.edu)
  • The progression of emphysema in mice exposed to elastase was significantly improved by the gene therapy as evidenced by improvements in lung compliance and alveolar size," said Andrew Wilson, MD, lead author of the study and an assistant professor of medicine at BUSM. (sciencedaily.com)
  • Our results challenge the dogma that lung macrophages are short-lived and suggest these differentiated cells as a target cell that may be considered for in vivo gene therapy applications including the sustained correction of hAAT deficiency," added Wilson. (sciencedaily.com)
  • Earlier HIV infec- receptor gene polymorphism in HIV infection, tion diagnosis, inhibition of ongoing HIV replica- only genes of the HLA system were thought to tion with antiretroviral therapy (in industrialized protect against HIV infection. (cdc.gov)
  • Here, we used a gene therapy approach to directly overexpress APPsα in the brain using AAV-mediated gene transfer and explored its potential to rescue structural, electrophysiological and behavioral deficits in APP/PS1∆E9 AD model mice. (springer.com)
  • Early assignment of disease progression among patients with X-linked adrenoleukodystrophy (ALD) is critical for the appropriate selection of effective therapy. (ajnr.org)
  • We are using state-of-the-art next generation sequencing combined with bioinformatic strategies, and developing stem cell-based approaches for gene therapy and drug discovery. (nih.gov)
  • ABCA4- related retinal dystrophies have a major impact on quality of life and clinical interventions including stem cell therapy, gene replacement therapy, and pharmacological agents are currently being developed [ 21 ]. (nature.com)
  • Importantly, immune constituents of the tumor microenvironment (TME) can influence therapy response and cancer progression. (mdpi.com)
  • These genetic factors could be used to predict outcome - or prognosis - to help determine how aggressive disease therapy needs to be," adds Dr. Cohen, who wasn't part of the Nature study. (everydayhealth.com)
  • A first-of-its-kind gene therapy received approval from the Food and Drug Administration on Tuesday to treat a rare, inherited form of childhood blindness. (scientificamerican.com)
  • Wall Street analysts expect the gene therapy to command a $1 million price tag-another first, but not necessarily a welcome one. (scientificamerican.com)
  • Today's approval marks another first in the field of gene therapy-both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss-and this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases," FDA Commissioner Scott Gottlieb said in a statement. (scientificamerican.com)
  • Virus-mediated gene therapy has the potential to deliver exogenous genetic material into specific cell types to promote survival and counteract disease. (frontiersin.org)
  • Administration of gene therapy viruses into skeletal muscle, where distal terminals of motor and sensory neurons reside, has been shown to result in extensive transduction of cells within the spinal cord, brainstem, and sensory ganglia. (frontiersin.org)
  • This route is minimally invasive and therefore clinically relevant for gene therapy targeting to peripheral nerve soma. (frontiersin.org)
  • In this review article, we outline key characteristics of major gene therapy viruses-adenovirus, adeno-associated virus (AAV), and lentivirus-and summarize the mechanisms regulating important steps in the virus journey from binding at peripheral nerve terminals to nuclear delivery. (frontiersin.org)
  • With thousands of clinical trials to date, gene therapy is a flourishing strategy with great promise for the treatment of diseases impacting the nervous system. (frontiersin.org)
  • Gene therapy viruses are non-replicating, but still hijack host cell machinery to express transgenes of interest in the nucleus. (frontiersin.org)
  • Therefore, it is quite critical to identify relevant genes and novel targets for therapy of HCC. (hindawi.com)
  • As news trickled across the Atlantic that five-year-old Saoirse Heffernan had been accepted as a candidate for a gene therapy trial at New York's Cornell Hospital that will prolong and potentially save her life, the Irish American community in New York banded together to raise more than $120,000 on Sunday to pave the way for her recovery. (irishcentral.com)
  • The funding received from the Swedish Research Council will go towards his research, 'mapping human dopamine neuron diversity at single-cell resolution for improved stem cell therapy in Parkinson's disease. (lu.se)
  • Amyloid mice are genetically engineered to inherit a mutation in the gene encoding the amyloid precursor protein, and as a result develop amyloid plaques - aggregates of misfolded proteins in the brain that are considered a hallmark characteristic of AD. (universityofcalifornia.edu)
  • Kotton and his colleagues utilized this method of gene transfer to achieve localized secretion of therapeutic levels of human alpha-1 antitrypsin (hAAT) protein in lung epithelial lining fluid. (sciencedaily.com)
  • The discovery of the gene sequences and predicted protein structures, role of CCR5 alleles has prompted studies of but their ligands have not been identified the possible role of many other host genes in (orphan receptors). (cdc.gov)
  • Almkvist O, Basun H, Wagner SL, Rowe BA, Wahlund LO, Lannfelt L (1997) Cerebrospinal fluid levels of alpha-secretase-cleaved soluble amyloid precursor protein mirror cognition in a Swedish family with Alzheimer disease and a gene mutation. (springer.com)
  • What does this gene/protein do? (cancerindex.org)
  • The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. (medlineplus.gov)
  • It is thought that the apolipoprotein E produced from the e4 allele of the APOE gene may disrupt the transport of a protein called alpha-synuclein into and out of cells. (medlineplus.gov)
  • Predicted protein sequences encoded by the assembled transcriptomes were clustered with reference proteomes from 92 other species to identify pathogenesis related gene families in P. patula, P. tecunumanii and other pine species. (biomedcentral.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
  • Although molecular studies have shown that qualitatively, synchronous DCIS and invasive breast cancers are remarkably similar, there is burgeoning evidence to demonstrate that intra-tumor genetic heterogeneity is observed in a subset of DCIS, and that the process of progression to invasive disease may constitute an 'evolutionary bottleneck', resulting in the selection of subsets of tumor cells with specific genetic and/or epigenetic aberrations. (nih.gov)
  • Here we review the clinical challenge posed by DCIS, the contribution of the microenvironment and genetic aberrations to the progression from in situ to invasive breast cancer, the emerging evidence of the impact of intra-tumor genetic heterogeneity on this process, and strategies to combat this heterogeneity. (nih.gov)
  • Our study demonstrates that losing one copy of the MIR15A/MIR16-1 gene promotes tumor cell proliferation in both mice and patients," said Chesi. (aacr.org)
  • tumor suppressor genes. (upstate.edu)
  • The past research works shed light on the fact that ARG1 participates in anti-inflammation, tumor immunity, and immunosuppression-related diseases. (hindawi.com)
  • Recent studies confirm that ARG1 is induced in alternatively activated (M2) macrophages and participates in anti-inflammation, tumor immunity, tumor proliferation, metastasis, and immunosuppression-related diseases [ 9 , 10 ]. (hindawi.com)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • The genes in the second group are called tumor suppressors. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • To date, molecular genetic studies of CML BC have mainly focused on alterations of well-known tumor-suppressor genes (e.g. (lu.se)
  • Alpha-1 Anti-trypsin Deficiency is the most common inherited form of emphysema seen in young people due to a mutation in the Alpha-1 Anti-trypsin gene. (sciencedaily.com)
  • However, our understanding of the timing and order of mutation acquisition in these genes remains incomplete without analyzing paired MDS and sAML samples from the same patient. (confex.com)
  • A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report. (nih.gov)
  • For Spark, the injection site is the eyes of people, mostly children and young adults, who have a type of inherited retinal disease caused by a mutation in a gene called RPE65. (scientificamerican.com)
  • They used SSc patient data from two clinical centers to identify the 415 genes, and data sets from patients from five additional centers to validate the new test. (stanford.edu)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • At a national conference in 1984, Dr. James O. Mason, then Director of the Centers for Disease Control, challenged the public health community to develop a strategy to eliminate tuberculosis from the United States. (cdc.gov)
  • This plan was developed by the Centers for Disease Control/Department of Health and Human Services' Advisory Committee for Elimination of Tuberculosis. (cdc.gov)
  • The Centers for Disease Control is identifying activities for short- and long-term implementation. (cdc.gov)
  • Announcer] This program is presented by the Centers for Disease Control and Prevention. (cdc.gov)
  • I emailed Peter Cegielski, the team leader for drug-resistant TB at the US Centers for Disease Control and Prevention, and the senior author on the Morbidity and Mortality Weekly Report publication. (cdc.gov)
  • Stephen C. Guptill (U.S. Geological Survey, Reston, VA) reported that the U.S. Geological Survey is working with the Centers for Disease Control and Prevention (CDC) to learn the current geographic extent of WNV. (cdc.gov)
  • There is no cure or approved way to slow or stop progression of the neurological disorder that afflicts more than 5 million Americans and is the sixth leading cause of death in the United States. (universityofcalifornia.edu)
  • BALTIMORE, MD -- 01/05/2005 -- A family of existing antibiotics may help prevent nerve damage and death in neurological injury including amyotrophic lateral sclerosis (ALS or Lou Gehrig s disease), according to a report in the January 6, 2005, issue of Nature. (webwire.com)
  • The findings may be applicable to a wide variety of neurodegenerative diseases as well as to other neurological diseases including epilepsy, peripheral neuropathy, and disorders of learning and memory. (webwire.com)
  • Founded in 2004, Ruxton Pharmaceuticals is an emerging pharmaceutical company that has been formed to discover, develop and market drugs for the treatment of neurodegenerative and other neurological diseases. (webwire.com)
  • Faculty in Medical Genetics are at the forefront of their fields employing cutting edge genetic, epigenetic, genomic and bioinformatic methodologies to gain insight into diseases such as cancer, diabetes, obesity, neurodegenerative and neurological disorders, and other genetic diseases. (ubc.ca)
  • Stem cells are the building blocks of modern medicine and hold the key to tackling some of the most complex diseases of our time - from lung disease to neurological disorders to cancer. (lu.se)
  • Efforts to develop effective disease management strategies can be aided by investigating the molecular mechanisms involved in the host-pathogen interaction between F. circinatum and pine species. (biomedcentral.com)
  • Pharmacogenomics in SSA populations will probe the widest genetic diversity and improve the chances of identifying novel and relevant mechanisms of disease and for targeted therapies to sub-populations. (cambridge.org)
  • The model will permit to accelerate and reduce the price of the research, which is studying the mechanisms and the possible pharmacological targets for the neuronal alterations of this disease. (news-medical.net)
  • Periodontitis is a chronic inflammatory disease initiated by specific bacteria that activate host mechanisms destroying the bone and connective tissues that support the teeth. (baycitycapital.com)
  • Streptococcal pathogens continue to evade concerted efforts to decipher clear-cut virulence mechanisms, although numerous genes have been implicated in pathogenesis. (cdc.gov)
  • Dr Tamara Jamaspishvili is a research pathologist, translational research scientist focusing on developing, evaluating, validating, and applying tissue-based prognostic and predictive biomarkers and models for improved disease prognostication and management of cancer patients. (upstate.edu)
  • Generating a reference sequence for P. tecunumanii and characterizing pathogenesis related gene families in these two pine species is an important step towards unravelling the pine- F. circinatum interaction. (biomedcentral.com)
  • In this review, we discuss our current understanding of the contribution of NMJ dysfunction in SMA disease pathogenesis, and also provide an overview of therapies currently under preclinical and clinical development for treatment of SMA. (benthamscience.com)
  • Too much glutamate resulting from too few glutamate transporters, as is observed in neurodegenerative diseases, overexcites nerve cells and harms them, a process called glutamate excitotoxicity. (webwire.com)
  • Excess synaptic glutamate has long been known as a source of nerve damage in neurodegenerative diseases such as ALS, Parkinson s, and multiple sclerosis. (webwire.com)
  • Scientists from the University of Bonn, the German Center for Neurodegenerative Diseases and the German Cancer Research Center investigated such peroxisomal diseases on fruit flies. (news-medical.net)
  • Advances in molecular genetics have help in the discovery of significant information on the relationship between muscle biology and clinical neuromuscular diseases. (medscape.com)
  • This is very well exemplified in the shift from descriptive classifications of neuromuscular diseases to molecular pathobiologic classifications of neuromuscular diseases. (medscape.com)
  • Molecular characterization of the re-emerging West Nile virus in avian species and equids in Israel, 2018, and pathological description of the disease. (cdc.gov)
  • NEW YORK (GenomeWeb) - A pair of newly published studies has established a potential role for specific gut bacteria in the progression of multiple sclerosis (MS), suggesting therapeutic targeting of the microbiota as a potential treatment for the disease. (genomeweb.com)
  • UC also shares a genetic architecture with multiple sclerosis , another autoimmune-mediated disease, according to a 2021 study . (medicalnewstoday.com)
  • Scientists have discovered a genetic variant that appears to predict faster symptom progression in people with multiple sclerosis. (everydayhealth.com)
  • A Department of Defense Laboratory Consortium Approach to Next Generation Sequencing and Bioinformatics Training for Infectious Disease Surveillance in Kenya. (cdc.gov)
  • The Sixth Annual Conference on New and Reemerging Infectious Diseases was hosted April 24–25, 2003, by the Center for Zoonoses Research and the College of Veterinary Medicine, University of Illinois at Urbana-Champaign (UIUC). (cdc.gov)
  • The poster (#1290), titled "IL1 Genotype and Obesity Characteristics Interact to Influence Periodontitis Progression," will be presented by Leon Williams, Ph.D., Senior Director of Translational Sciences, Interleukin Genetics, on Thursday, March 12, from 2:00-3:15 p.m. (baycitycapital.com)
  • Tests for association of genotype with obesity characteristics and progression were performed using regression models with or without adjustments for age, smoking, and glucose tolerance. (baycitycapital.com)
  • The association between the PerioPredict® genotype and progression was not affected by baseline BMI or changes in weight or WC, but was affected by baseline WC/height ratio. (baycitycapital.com)
  • TRIM22 is a host restriction factor, which directly inhibits HIV-1 transcription, and its genotype variation is associated with disease progression in adults. (lu.se)
  • We tested the hypothesis that TRIM22 genotype is associated with disease progression in CWH. (lu.se)
  • We performed a candidate gene association study of TRIM22 genotype and haplotypes with markers of disease progression and indicators of advanced disease. (lu.se)
  • CONCLUSION: TRIM22 genotype was not associated with markers of HIV disease progression markers or advanced disease in CWH. (lu.se)
  • Chesi and colleagues focused on two genes, RB1 and MIR15A/MIR16-1, which are found in a region of the human genome known as chromosome 13. (aacr.org)
  • Chesi and colleagues investigated whether individual genes on chromosome 13 would impact disease initiation or progression. (aacr.org)
  • Furthermore, clinical markers (neurologic and cognitive scores) are relatively insensitive to early nervous system involvement and minor disease progression (9) . (ajnr.org)
  • As MS occurs when the immune system attacks cells in the brain and spinal cord in error, damaging nerves and muscles, their involvement in symptom progression makes sense, they say. (everydayhealth.com)
  • The study describes a method to express therapeutic genes in lung tissue for a lifetime after only a single treatment. (sciencedaily.com)
  • The lung macrophages carrying the therapeutic gene survived in the lungs air sacks for the two-year lifetime of the treated mice following a single intra-tracheal injection of the lentiviral vector we had engineered," he added. (sciencedaily.com)
  • Additionally, we describe how neuropathology can negatively influence these pathways, and conclude by discussing opportunities to optimize the intramuscular administration route to maximize gene delivery and thus therapeutic potential. (frontiersin.org)
  • The team decided to perform fecal transplants on mice with an experimentally induced form of MS. They discovered that swapping the mice's microbiomes with those of MS patients caused the animals to lose key immune-regulatory cells and instead develop more severe neurodegeneration, indicating that the microbiome alone could affect the progression of MS. (genomeweb.com)
  • The data suggests that MS-derived microbiota potentially contain factors that precipitate an MS-like autoimmune disease in mice, and more importantly, in humans. (genomeweb.com)
  • By deleting the Rb1 and miR15a/miR16-1 genes in mice, Chesi and colleagues found that loss of just one copy of the miR15a/miR16-1 gene cluster, but not of Rb1, led to the accumulation of an abnormal antibody - a characteristic feature of both MGUS and multiple myeloma. (aacr.org)
  • A drug used to control Type II diabetes can help repair the spinal cords of mice suffering from the inherited disease adrenoleukodystrophy which, untreated, leads eventually to a paralysis, a vegetative state and death. (news-medical.net)
  • Atherosclerosis progression was determined using apolipoprotein E knockout (apoE-/-) mice fed the Western diet for one month prior to ten days of exposure (40mg/m3 for 3hr/day) and sacrificed two weeks post-exposure. (cdc.gov)
  • Results: In C57BL/6 exposed mice aortic RNA analyzed for 93 target genes by TaqMan array showed only a mild increase for MT-2 (50%) and Hsp70 (60%) 4hr post-exposure with no changes at the later time points. (cdc.gov)
  • However, experts are still working to establish the precise role specific genes play, if any. (medicalnewstoday.com)
  • Without this understanding of the natural clinical progression of the various genetic causes for DMD, it would be extremely difficult to design the clinical trials or choose the appropriate endpoints necessary to develop novel drugs to use for DMD," said Dr. Edward Kaye, President, CEO and Chief Medical Officer of Sarepta Therapeutics. (globalgenes.org)
  • The most highlighted impact of genomics is the inter-population variation, particularly the African genomic diversity, which could provide tools for improved understanding of individual variability in disease and pharmacology [ Reference Masimirembwa and Matimba 3 ]. (cambridge.org)
  • Objective 1: Expand, characterize, and elucidate the genetics, genomics, and host interactions of fungal collections of Rhizoctonia, Fusarium, and other sugar beet pathogens to identify disease resistance and fungicide resistance. (usda.gov)
  • Objective 2: Elucidate the genetics and genomics of sugar beet and develop improved genetic material with traits associated with disease and other stress resistance, nutrition, and geographic adaptation. (usda.gov)
  • Pre- hematopoietic and other cells, but the Duffy sence of one copy of the deleted CCR5 gene also antigen of erythrocytes (DARC) is the only influences the course of disease as the onset of member expressed on cells of erythroid lineage. (cdc.gov)
  • Experts associated 50 of these with very early onset inflammatory disease. (medicalnewstoday.com)
  • Systemic sclerosis, also called scleroderma, is an autoimmune disease that causes scarlike thickening of the skin and internal organs, such as the kidneys and lungs. (stanford.edu)
  • The team used publicly available patient data shared by hospitals across the United States to search for a set of genes whose activity would mark the progression of systemic sclerosis, or SSc. (stanford.edu)
  • In this study we tested the effects of gas metal arc-stainless steel (GMA-SS) welding fume on systemic inflammation and progression of atherosclerosis. (cdc.gov)
  • Conclusion: In the framework of this study, there were only mild indicators of systemic inflammation following GMA-SS inhalation for 10d without enhanced progression of atherosclerosis. (cdc.gov)
  • DCIS is a non-obligate precursor of invasive breast cancer, and up to 40% of these lesions progress to invasive disease if untreated. (nih.gov)
  • Currently, it is not possible to predict accurately which DCIS would be more likely to progress to invasive breast cancer as neither the significant drivers of the invasive transition have been identified, nor has the clinical utility of tests predicting the likelihood of progression been demonstrated. (nih.gov)
  • ADAR1 silencing in breast cancer cells leads to increased apoptosis, suggesting an anti-apoptotic function that promotes cancer progression. (cancerindex.org)
  • Here, on the contrary, we have been able to take advantage of these variations to highlight the rules that govern the course of the disease," explains Mikaël Pittet, full professor at the UNIGE Faculty of Medicine, holder of the ISREC Chair in Immuno-Oncology, director of the Centre for Translational Research in Onco-Haematology and a member of the Lausanne Branch of the Ludwig Institute for Cancer Research. (unige.ch)
  • Macrophages expressing more of the first gene are involved in attacks on cancer cells, while those expressing more of the second participate in their growth. (unige.ch)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • In mouse models of ALS, daily injections of ceftriaxone given after symptoms have developed delayed both nerve damage and the outward signs of the disease. (webwire.com)
  • Instead, AD is characterized by the continuous progression of the symptoms and associated neuropathological changes. (medscape.com)
  • People with UC will have periods of active disease, known as flares , and periods of remission, when they may not experience any symptoms. (medicalnewstoday.com)
  • The discovery is significant, Baranzini and his colleagues note, because while there are treatments that help manage flares in relapsing-remitting MS, currently available therapies - namely, immune system modulators, or immunomodulators - can only slow down, but not stop, progression, or a long-term worsening of symptoms. (everydayhealth.com)
  • It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
  • [ 3 ] In 1971, Salen found that chenodeoxycholic acid (CDCA), an important bile acid, was virtually absent in patients with clinical symptoms of the disease. (medscape.com)
  • Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. (nih.gov)
  • Mitochondrial biology, stress signaling and aging-related degenerative diseases. (upstate.edu)
  • In 1980, defects in mitochondrial sterol 27-hydroxylase were implicated in the biochemical pathophysiology of the disease by Oftebro et al. (medscape.com)
  • Transcriptomic analysis of liver biopsies in patients with NASH revealed that NASH progression is associated with rewiring of metabolic pathways, including upregulation of de novo lipid/cholesterol synthesis and fatty acid remodelling. (nih.gov)
  • June 2013) indicate that individuals with certain risk factors, including IL-1 gene variations, benefit significantly from cleanings twice annually, and patients with multiple risk factors appeared to require more than two cleanings annually to maintain health. (baycitycapital.com)
  • The published studies announced here explain approximately half of the variability in disease progression in Duchenne, more than double that explained previously with conventional analyses. (globalgenes.org)
  • classifying patients into these groups explained more than half of the variability in trajectories of disease progression. (globalgenes.org)
  • Since the early years of the HIV epidemic, cell function, have been suggested to explain significant differences in the rate of disease these findings (7,10,11,15). (cdc.gov)
  • Many patients are given drugs that are approved for use in other diseases, but each drug is clinically effective in only a fraction of patients. (stanford.edu)
  • In a cohort of chronic kidney disease (CKD) patients , we recently showed that high plasma NPY levels predict renal disease progression independently of hypertension and other risk factors but the causal nature of this association remains unproven. (bvsalud.org)
  • We banked paired MDS and sAML (and matched skin) samples from 44 patients (median time to progression: 306 days, range 21-3568). (confex.com)
  • As a first step, we wanted to quantify the different rates of disease progression in different patients," said Mercuri. (globalgenes.org)
  • Two different groups, using two separate cohorts of patients and controls, and two distinct mouse models of the disease, saw very similar results," Cekanaviciute said in a statement. (genomeweb.com)
  • 18 (86%) of the 21 patients had disease progression revealed by the follow-up evaluations based on MR imaging (Loes) and neurologic scores. (ajnr.org)
  • for 18 (82%) of the 22 patients, no evidence of disease progression was revealed by the follow-up evaluations. (ajnr.org)
  • In this study, we evaluated the association between contrast enhancement on the T1-weighted spin-echo MR images of patients with X-linked ALD and disease progression based on clinical evaluation and MR imaging scores. (ajnr.org)
  • Dose adjustments have been recommended for efavirenz due to genetic variations in CYP2B6 gene, which results in HIV patients in SSA requiring a reduced dose [ Reference Mukonzo 4 , Reference Dhoro 5 ]. (cambridge.org)
  • We report on retinal disease progression in homozygous patients, providing valuable allele-specific insights. (nature.com)
  • in a study of 13 cases, as many as 40% of patients with histological signs of disease were clinically asymptomatic. (bmj.com)
  • Viking Therapeutics, Inc., a clinical-stage biopharmaceutical company focused on the development of novel, first-in-class or best-in-class therapies for metabolic and endocrine disorders, today announced that it has submitted an investigational new drug (IND) application to the U.S. Food and Drug Administration to conduct a Phase 2 study of VK2809 in patients with hypercholesterolemia and fatty liver disease. (news-medical.net)
  • People born with mutated RPE65 genes suffer from severe vision problems, including night blindness. (scientificamerican.com)
  • Between 8% and 13% of the worldwide adult population exhibit severe generalized periodontitis, with many more having clinical signs of mild to moderate disease. (baycitycapital.com)
  • PerioPredict® measures variations in genes for Interleukin-1 (IL-1), a key mediator of inflammation, and identifies individuals who are at increased risk for moderate to severe periodontal disease. (baycitycapital.com)
  • Scientific: Proteomic and glycoproteomic analysis to identify early markers of disease, analytical and clinical assay development. (drexel.edu)
  • Nevertheless, plasma assays have been found to be unreliable markers for disease progression, irrespective of subtype. (ajnr.org)
  • Several HLA genes or haplotypes immunodeficiency virus (HIV) as of mid-1996 (1). (cdc.gov)
  • These may make a person more likely to develop an inappropriate immune response, resulting in inflammatory bowel disease (IBD) such as UC or Crohn's disease . (medicalnewstoday.com)
  • Consuming oxalate-rich foods or having medical conditions that allow the GI tract to absorb more oxalate (such as Crohn's disease, inflammatory bowel disease , gastric bypass, and other illnesses in which nutrients are not effectively absorbed) might induce higher absorption. (medicinenet.com)
  • The use of human stem cell-based models, including human brain organoids and cell transplantation, will further the efforts of the scientific community to unravel the complexity of dopamine neurons, driving advancements in stem cell-based treatments in Parkinson´s disease," revealed Alessandro. (lu.se)
  • Central core disease (CCD) is predominantly an autosomal dominant neuromuscular condition exhibiting variable penetrance, which also has been described in association with the pharmacogenetic disorder malignant hyperthermia (MH). (bmj.com)
  • Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
  • These syndromes are now classified on the basis of at least 15 identified genes-5 autosomal dominant and 10 autosomal recessive. (medscape.com)
  • and movement problems characteristic of Parkinson's disease such as rigidity of limbs, tremors, and impaired balance and coordination. (medlineplus.gov)
  • Maintaining normal levels of cholesterol is essential for the prevention of disorders that affect the heart and blood vessels (cardiovascular diseases), including heart attack and stroke. (medlineplus.gov)
  • This article discusses the genetic factors linked with ulcerative colitis and other triggers that may set off the disease. (medicalnewstoday.com)
  • Previous studies have identified genetic factors that determine the risk for developing MS , most of which were related to immune function, [but] this study shows that different genetic factors determine disease outcome, namely factors that affect the nervous system's ability to compensate for damage," notes Jeffrey Cohen, MD , a neurologist and director of the Cleveland Clinic's Mellen Center for MS Treatment . (everydayhealth.com)
  • The genetic factors underlying progression from MGUS to multiple myeloma remain unclear. (aacr.org)
  • Transmission Dynamics and Microevolution of Neisseria meningitidis During Carriage and Invasive Disease in High School Students in Georgia and Maryland, 2006-2007. (cdc.gov)
  • The authors believe future research will center on figuring out how the bacteria influence the development and progression of MS. (genomeweb.com)
  • For example, APOE alleles have been shown to influence the risk of cardiovascular diseases. (medlineplus.gov)
  • Characterize host-pathogen, host-pathogen-pathogen interactions and host developmental stages that influence disease progression. (usda.gov)
  • While it is established that this environment differs from one patient to another and that it can have a positive or negative influence on the progress of the disease, the rules that govern tumour microenvironments are still poorly understood. (unige.ch)
  • These components, which differ from patient to patient, have a crucial influence on the course of the disease: they can speed up or slow down its progression. (unige.ch)
  • While the exact cause of multiple myeloma is not clear, there are several factors that may influence a person's risk of developing the disease, including age, sex, race, and medical history. (aacr.org)
  • Like other gene therapies, Luxturna inserts a functional piece of DNA into cells in order to replace or override a defective, disease-causing gene. (scientificamerican.com)
  • In 1995, HIV- interactions with other host genes. (cdc.gov)
  • Interleukin used obesity-related risk factors and IL-1 genetic variations along with other well established risk factors to analyze for significant associations and interactions relative to periodontitis progression. (baycitycapital.com)