GenesPathogenesisParkinson'sGeneAdult onsetPrevalentQuantitativeIdentifiesPatientsPathophysiologyDisorderType 2 diabetAllelesMutationsAlzheimer's DiseaseInflammatory diseasesChronicFamilialMultiple sclerosisIdentificationIncreasinglyChromosomeAPOEOnsetDecadesBiochemicalDisordersCancer and other humaBroadlyInfectiousAlzheimer DiseasePreventionClinicalDiabetesMeta-analysisMechanismsDegenerationGenomicMarkersTrialsObesityGloballyPathologicTreatmentBreast cancerImplicationsOptic nerveHuman geneticsOccursRisk factorIdentify
Genes14
- Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer. (cdc.gov)
- Here, we discuss how such methodology can be useful to translational biomedical research, where scientists traditionally focus on one or a small set of genes, diseases, and drug candidates at any one time. (biomedcentral.com)
- Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
- Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
- In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
- An approach for ranking genes implicated in the comorbid condition of the two diseases was proposed. (biomedcentral.com)
- The approach is based on ten criteria for ranking genes by their importance, including relevance scores of association between disease and genes, standard methods of gene prioritization, as well as original criteria that take into account the characteristics of an associative gene network and the presence of known polymorphisms in the analyzed genes. (biomedcentral.com)
- According to the proposed approach, the genes OPRM1, CHRNA4 and SNCA had the highest priority in the development of comorbidity of these two diseases. (biomedcentral.com)
- We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. (amsterdamumc.org)
- The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. (amsterdamumc.org)
- In secondary analyses designed to highlight the specific genes driving the aggregate signal, we confirmed associations at the GBA and SMPD1 loci and newly implicate CTSD, SLC17A5, and ASAH1 as candidate Parkinson's disease susceptibility genes. (amsterdamumc.org)
- Many of the Alzheimer's disease (AD) risk genes are specifically expressed in microglia and astrocytes, but how and when the genetic risk localizing to these cell types contributes to AD pathophysiology remains unclear. (massgeneral.org)
- Here we mapped expression quantitative trait loci (eQTLs) for classical HLA genes across 1,073 individuals and 1,131,414 single cells from three tissues. (massgeneral.org)
- Genome-wide association analyses on large patient cohorts are generating large sets of candidate disease genes. (biomedcentral.com)
Pathogenesis3
- Such protein accumulation may contribute to the pathogenesis and phenotypic characteristics in neurodegenerative diseases, cardiovascular diseases, inflammatory responses and autoimmune diseases, and systemic DNA damage responses leading to malignancies. (wikipedia.org)
- Despite this evidence, the BSCB (like the BBB) breakdown in disease pathogenesis remains unclear [ 6 , 7 ]. (hindawi.com)
- Our results highlight several promising new susceptibility loci and reinforce the importance of lysosomal mechanisms in Parkinson's disease pathogenesis. (amsterdamumc.org)
Parkinson's9
- This review will summarize the updated research progress on APOE functions and its role in Alzheimer's disease, Parkinson's disease, cardiovascular diseases, multiple sclerosis, type 2 diabetes mellitus, Type III hyperlipoproteinemia, vascular dementia, and ischemic stroke. (dovepress.com)
- 3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
- Parkinson's disease (PD) and progressive supranuclear palsy (PSP) both impair response inhibition, exacerbating impulsivity. (nihr.ac.uk)
- Disease effects seen in MRI data have been identified in many neurological and psychiatric disorders such as Alzheimer's disease, Parkinson's disease, schizophrenia, bipolar disorder and autism 1 . (biorxiv.org)
- Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. (ucl.ac.uk)
- Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. (amsterdamumc.org)
- We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk. (amsterdamumc.org)
- In our discovery cohort, the majority of Parkinson's disease cases (56%) have at least one putative damaging variant in a lysosomal storage disorder gene, and 21% carry multiple alleles. (amsterdamumc.org)
- We suggest that multiple genetic hits may act in combination to degrade lysosomal function, enhancing Parkinson's disease susceptibility. (amsterdamumc.org)
Gene8
- A large antisense non-coding RNA gene (ANRIL) collocates with the high-risk haplotype, is expressed in tissues and cell types that are affected by atherosclerosis and is a prime candidate gene for the chromosome 9p CAD locus. (ox.ac.uk)
- Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
- Cancer susceptibility gene mutations in type I and II endometrial cancer. (cdc.gov)
- We have ongoing interests in the systems level analysis and reconstruction of regulatory networks, inference of enhancer-promoter contacts, predictive models of gene expression and integration of three-dimensional chromatin structure with one-dimensional epigenetic measurements in the context of cancer, malaria, asthma and several autoimmune diseases. (ucsd.edu)
- Thirteen gene-gene interactions between the loci of LHB , LHCGR , and APOE were associated with AD. (biomedcentral.com)
- The reversal of risk embodied in this interaction powerfully supports the importance of considering the role gene-gene interactions play in the etiology of complex biological diseases and demonstrates the importance of using multiple analytic methods to detect well-supported gene-gene interactions. (biomedcentral.com)
- To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). (ox.ac.uk)
- He was a leader of the SNP Consortium, HapMap and 1,000 Genome Projects, and with discovered over 100 gene variants associated with type 2 diabetes and other common diseases. (agbt.org)
Adult onset2
- ALS, also known as Lou Gehrig disease, is the most common neurodegenerative disease of adult onset involving the motor neuron system. (medscape.com)
- Success has been particularly limited in adult-onset neurodegenerative diseases, for which no disease-modifying drug yet exists. (nature.com)
Prevalent2
- Neurodegenerative disease is increasingly prevalent and remains without disease-modifying therapies. (nature.com)
- Epilepsy is more prevalent in certain neurodegenerative diseases. (uantwerpen.be)
Quantitative2
- Second, while reports sometimes categorize trials as preventive versus symptomatic, we wished to examine more quantitative metrics of disease stage or severity. (nature.com)
- Application of quantitative genetics methodology in fact supports the presence of 4 as yet unidentified AD-associated loci in the human genome, each expected to affect age of onset (AoO) as much or more than APOE [ 6 ]. (biomedcentral.com)
Identifies2
Patients6
- Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. (prolekarniky.cz)
- Genetic and biochemical studies support the apolipoprotein E ( APOE ) ε4 allele as a major risk factor for late-onset Alzheimer's disease (AD), though ~50% of AD patients do not carry the allele. (biomedcentral.com)
- Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus. (ucl.ac.uk)
- Background: Persons with multiple sclerosis (pwMS) might be particularly well suited to benefit from digital health applications because they are, on average, younger and less severely disabled than patients with many other chronic diseases. (inims.de)
- Background: While substantial progress has been made in the development of disease-modifying medications for multiple sclerosis (MS), a high percentage of treated patients still show progression and persistent inflammatory activity. (inims.de)
- Dr. Falk is also PI of an NIH, pharma, and philanthropic funded translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans , zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction, and directs multiple clinical treatment trials in mitochondrial disease patients. (agbt.org)
Pathophysiology2
- The proteasome and its subunits are of clinical significance for at least two reasons: (1) a compromised complex assembly or a dysfunctional proteasome can be associated with the underlying pathophysiology of specific diseases, and (2) they can be exploited as drug targets for therapeutic interventions. (wikipedia.org)
- Structural and molecular imaging has contributed to a better understanding of the pathophysiology of neurodegenerative dementias and is increasingly being adopted into clinical practice for early and accurate diagnosis. (nihr.ac.uk)
Disorder6
- PLS is a rare, idiopathic neurodegenerative disorder that primarily involves the UMNs, resulting in progressive spinobulbar spasticity. (medscape.com)
- Alzheimer disease (AD) is a neurodegenerative disorder marked by cognitive and behavioral impairment that significantly interferes with social and occupational functioning. (medscape.com)
- Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by neuronal and synaptic loss, neurofibrillary tangles in neuronal cytoplasm, and deposition of β-amyloid (Aβ) in extracellular, neuritic plaques. (biomedcentral.com)
- A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. (houstonmethodist.org)
- Alzheimer disease (AD) is an acquired disorder of cognitive and behavioral impairment that markedly interferes with social and occupational functioning. (medscape.com)
- Trends Genetics , 2014), and investigating human diseases of telomere dysfunction (called telomeropathies) which are an emerging genetic spectrum disorder ( J. Cell Biol , 2014, Nucleic Acids Res , 2007, PNAS , 2007). (utsouthwestern.edu)
Type 2 diabet2
- Goran MI, Ball GDC, Cruz ML. Obesity and risk of type 2 diabetes and cardiovascular disease in children and adolescents. (medigraphic.com)
- The region is also associated with type 2 diabetes (T2D), a risk factor for CAD, although different SNPs were reported to be associated to each disease in separate studies. (ox.ac.uk)
Alleles1
Mutations2
- Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
- This previously unknown mitochondrial function of HSPB1 is disturbed by CMT disease-causing mutations. (uantwerpen.be)
Alzheimer's Disease4
- Alzheimer's disease (AD) is a progressive neurodegenerative disease that is the most common cause of dementia in the aging population and is characterized by significant impairment in learning and memory. (biomedcentral.com)
- A Polygenic Risk Score Derived From Episodic Memory Weighted Genetic Variants Is Associated With Cognitive Decline in Preclinical Alzheimer's Disease. (cdc.gov)
- It is now acknowledged that Alzheimer's Disease (AD) processes are present decades before the onset of clinical symptoms, but it remains unknown whether lifestyle factors can protect against these early AD processes in mid-life. (medrxiv.org)
- These findings suggest that modifiable lifestyle activities offset cognitive decrements due to AD risk in mid-life and support the targeting of modifiable lifestyle activities for the prevention of Alzheimer's Disease. (medrxiv.org)
Inflammatory diseases2
- In this article, the role of Y chromosome in male-specific diseases (male infertility and prostate cancer (PC), and the ones which primarily affect men such as cardiovascular diseases, inflammatory diseases, and various types of cancers has been reviewed (Fig. 2 ). (biomedcentral.com)
- Mucosal-associated invariant T (MAIT) cells have been implicated in various inflammatory diseases of barrier organs, but so far, their role in kidney disease is unclear. (inims.de)
Chronic2
- Acute kidney injury (AKI) is a life-threatening disease with high mortality characterized by an abrupt decrease of the kidney glomerular filtration rate, extra-kidney consequences (cardiovascular diseases, lung injury, neurological impairment) and high risk of secondary chronic kidney disease (CKD). (hrb.ie)
- physical: causing to explant with the download Insecticides, the CHRONIC susceptibility through which supply relates from the brain to the muscle. (augenta.net)
Familial2
- HSP, also known as familial spastic paraplegias or Strumpell-Lorrain disease, comprises a clinically and genetically heterogeneous group of hereditary disorders characterized by slowly progressive spastic paraparesis. (medscape.com)
- Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. (ox.ac.uk)
Multiple sclerosis1
Identification2
- Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. (ox.ac.uk)
- Identification of disease risk factors and early markers will increase over time with emerging clinical outcomes 3 . (biorxiv.org)
Increasingly1
- Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
Chromosome3
- Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. (ox.ac.uk)
- Genome-wide association studies have identified a region on chromosome 9p that is associated with coronary artery disease (CAD). (ox.ac.uk)
- Understanding the molecular mechanisms underlying Y chromosome-related diseases can have a significant impact on the prevention, diagnosis, and treatment of diseases. (biomedcentral.com)
APOE2
- Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
- This suggests that the lhcgr2 C-allele or a closely linked locus greatly reduces the risk of AD in males carrying an APOE ε4 allele. (biomedcentral.com)
Onset2
- Participants were 40-69 years of age at baseline recruitment, a major aim being to acquire as rich data as possible before disease onset. (biorxiv.org)
- We assessed the impact of lifestyle activities, known risk factors for sporadic late-onset AD (Apolipoprotein E □4 allele status, family history of dementia, and the Cardiovascular Risk Factors Aging and Dementia score), and their interactions on cognition. (medrxiv.org)
Decades1
- For almost three decades, Huntington's disease has been a prototype for the application of genetic strategies to human disease. (biomedcentral.com)
Biochemical1
- The various biochemical, physiological, and genomic factors that can influence BBB permeability in ALS and other neurodegenerative diseases are also discussed, in addition to novel therapeutic strategies centred upon the BBB. (hindawi.com)
Disorders3
- Farnesyltransferase inhibitors (FTIs) have recently been investigated for repositioning toward the treatment of neurodegenerative disorders and block the action of farnesyltransferase (FTase) to catalyze farnesylation, a post-translational modification that regulates proteins involved in lysosome function and microtubule stability. (biomedcentral.com)
- As many of these neurodegenerative disorders are characterized by the presence of pathologic forms of tau and neurofibrillary tangles, studying the effects of tau pathology on the development of epilepsy might prove rewarding. (uantwerpen.be)
- His innovative biotechnologies and computational tools to study the sequence and function of genomes are advancing the understanding of the structure, evolution, and function of genomes for medicine - particularly autism spectrum disorders, cancer, and other human diseases - and agriculture. (agbt.org)
Cancer and other huma1
- Research in G&E labs is broadly focused on the fundamental genetic, epigenetic, and genomic mechanisms that control cell growth and differentiation, and that cause cancer and other human diseases. (uth.edu)
Broadly1
- First, experimental drugs are often broadly categorized as "disease-modifying" if the hypothesis is one of disease modification, regardless of the quality of that hypothesis. (nature.com)
Infectious4
- Emerging Infectious Diseases , 29 (11), 2189-2197. (cdc.gov)
- Emerging Infectious Diseases , 29 (11), 2198-2202. (cdc.gov)
- The human leukocyte antigen (HLA) locus plays a critical role in complex traits spanning autoimmune and infectious diseases, transplantation and cancer. (massgeneral.org)
- Malaria tropica is one of the major infectious diseases globally and is caused by the protozoan parasite Plasmodium falciparum . (biomedcentral.com)
Alzheimer Disease3
- Coronal T1-weighted magnetic resonance imaging (MRI) scan in a patient with moderate Alzheimer disease. (medscape.com)
- Alzheimer disease (AD) is the most common progressive degenerative form of dementia, strongly associated with advancing age. (medscape.com)
- Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main contributing factor is unknown. (medscape.com)
Prevention2
- From the clinicians' point of view, it is necessary to bridge the gap between theoretical network biology and practical biomedical research, in order to improve the diagnosis, prevention, and treatment of the world's major diseases. (biomedcentral.com)
- Centers for Disease Control and Prevention. (cdc.gov)
Clinical3
- In this study, we sought to understand the disease stages and therapeutic hypotheses studied in clinical trials conducted in neurodegenerative diseases to date. (nature.com)
- Our goals were to characterize clinical trials across major neurodegenerative disease indications, identifying correlations and temporal trends, particularly with regards to disease stages and molecular targets of drugs. (nature.com)
- She works to improved clinical care, diagnostic approaches, and genomic resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium. (agbt.org)
Diabetes2
- The CAD susceptibility conferred by this locus did not differ by sex, age, smoking, obesity, hypertension or diabetes. (ox.ac.uk)
- A simultaneous test of CAD and diabetes susceptibility with CAD and T2D-associated SNPs indicated that these associations were independent of each other. (ox.ac.uk)
Meta-analysis1
- To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). (ox.ac.uk)
Mechanisms1
- Many aspects regarding the molecular mechanisms of small heat shock proteins, both in health and disease, remain to be unraveled. (uantwerpen.be)
Degeneration1
- Primary open angle glaucoma (POAG), the most common form of glaucoma in the Western world, is an age-related, complex disease characterized by progressive irreversible degeneration of the optic nerve due to apoptotic retinal ganglion cell death [2] . (prolekarniky.cz)
Genomic1
- Because both loci influence transforming growth factor beta (TGF-beta) signaling, we performed a genomic pathway analysis that showed an association between the TGF-beta pathway and NPG (permuted p = 0.009). (prolekarniky.cz)
Markers1
- By convention, clinicians typically focus on specific sets of key genetic markers associated with diseases, to identify the most probable drug targets. (biomedcentral.com)
Trials1
- We annotated targets and eligibility criteria for 3238 neurodegenerative disease trials registered at ClinicalTrials.gov from 2000 to 2020. (nature.com)
Obesity1
Globally2
- Neurodegenerative disease is on the rise globally due to aging populations 1 , highlighting a need for effective therapeutic interventions. (nature.com)
- Autoimmune disease affects 10% of adults, most of whom are women, and two of the top five medications with the highest cost globally are used to maintain these recurring conditions in remission. (hrb.ie)
Pathologic1
- We reported increased seizure susceptibility in young Tau58/4 mice, which are still in an early pathologic stage, but not in old Tau58/4 mice with full-blown tau pathology. (uantwerpen.be)
Treatment5
- Currently, the only disease-modifying therapy conditionally approved by the FDA is an anti-Aβ antibody that clears aggregated forms of Aβ from the brain [ 5 ], confirming that targeting Aβ in the brain is a promising approach to AD treatment. (biomedcentral.com)
- The prognosis is poor as no treatment is available for the primary disease. (medscape.com)
- The development of effective treatment approaches against these diseases is complicated by their comorbidity features. (biomedcentral.com)
- Dr. Altshuler leads Vertex's research efforts aimed at discovering new medicines for the treatment of CF and other serious diseases, overseeing the company's three research sites in the United States and Europe. (agbt.org)
- Luke is a community leader who drives our collective mission to urgently bring treatment to children living with rare neurodegenerative diseases. (agbt.org)
Breast cancer1
- Genome-wide association studies identify four ER negative-specific breast cancer risk loci. (ox.ac.uk)
Implications1
- A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases. (cdc.gov)
Optic nerve1
- however, many individuals have IOP elevation without optic nerve disease [6] , and at least 33% of affected individuals have progressive retinal ganglion cell loss despite IOP measurements in the normal range (less than 22 mmHg), a condition defined as normal-pressure glaucoma (NPG) [7] . (prolekarniky.cz)
Human genetics2
- As detailed on our website, the G&E Program tackles foundational questions in development and disease that can be grouped into five research areas: epigenetics, developmental genetics, human genetics, cancer genetics, and genome maintenance and repair. (uth.edu)
- She has authored more than 95 publications in the areas of human genetics and mitochondrial disease. (agbt.org)
Occurs1
- Further separation of the central nervous system (CNS) from the cardiovascular system occurs via the blood-spinal cord barrier (BSCB). (hindawi.com)
Risk factor2
- Excess sedentary time (ST) is recognized as an important modifiable risk factor for coronary heart disease (CHD). (nihr.ac.uk)
- Vascular calcification is a hallmark of atherosclerotic disease and serves as a strong predictor and risk factor for cardiovascular events. (massgeneral.org)
Identify1
- Global analysis may provide better insight into the overall picture of human diseases, as well as identify previously overlooked problems, leading to rapid advances in medicine. (biomedcentral.com)