Human diseases diseases disease susceptibility. Medical search. Frequent questions

It is a primary immunodeficiency featured by molecular defects in IL12/IFNγ dependent signalling pathway, leading to increased susceptibility to local or disseminated infections by environmental mycobacteria, Mycobacterium bovis Bacille Calmette-Guerin strain, nontyphoidal and typhoidal Salmonella serotypes. (wikipedia.org)

Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. (routledge.com)
One example is our discovery of DOCK8 deficiency, which causes patients to have increased susceptibility to various infections, but especially viral skin infections, including herpes simplex virus and human papillomavirus. (nih.gov)

A combination of at least two Tg SNPs conferred susceptibility to human AITD. (elsevierpure.com)
In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.com)
NCBI has become a central repository for genomic sequence data in humans and other species and has developed many other public databases, such as dbSNP (for single nucleotide polymorphisms, or SNPs) and Entrez Gene (for genes) ( 5 , 6 ). (cdc.gov)
We performed a large case-control study involving 414 patients and 1199 cancer-free controls to investigate whether single nucleotide polymorphisms (SNPs) in the WDR4 gene are associated with Wilms tumor susceptibility. (jcancer.org)
In addition, unconditioned logistic regression analysis was performed, odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association between WDR4 gene SNPs and Wilms tumor susceptibility as well as the strength of the associations. (jcancer.org)

Centers for Disease Control and Prevention. (cdc.gov)
The MMWR series of publications is published by the Center for Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention (CDC), U.S. Department of Health and Human Services, Atlanta, GA 30329-4027. (cdc.gov)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)

There are an increasing number of reports showing that mutations in the ATG genes were identified in various human diseases such as neurodegenerative diseases, infectious diseases, and cancers. (nature.com)
Prion diseases are unique in that they can be inherited, they can occur sporadically, or they can be infectious. (medscape.com)
The infectious agent in the prion disease is composed mainly or entirely of an abnormal conformation of a host-encoded glycoprotein called the prion protein. (medscape.com)
Tuberculosis (TB) (see the image below), a multisystemic disease with myriad presentations and manifestations, is the most common cause of infectious disease-related mortality worldwide. (medscape.com)
See 11 Travel Diseases to Consider Before and After the Trip , a Critical Images slideshow, to help identify and manage infectious travel diseases. (medscape.com)
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)
We will determine whether genetic groups are protected against autoimmune conditions such as arthritis and type 1 diabetes, or whether this increases susceptibility to infectious diseases such as HIV or COVID-19. (ukbiobank.ac.uk)
Climate factors, in addition to multiple human, biological and ecological determinants, influence the emergence and re-emergence of infectious diseases, including dengue, 5 which is transmitted by both the primary vector Aedes aegypti and the secondary vector Aedes albopictus. (who.int)
Conclusion: The presence of potentially pathogenic bacteria on cell phones of health-care workers emphasizes the role of fomites in the transmission of infectious diseases. (bvsalud.org)

Lipidomic techniques continue to provide evidence for their association in neurological diseases, including Parkinson's disease (PD) and Lewy body disease (LBD). (mdpi.com)
Whole genome sequencing identified three amino acid mutations previously associated with Crohn's disease and Parkinson's disease as candidate variants for early onset leprosy: LRRK2 N551K, R1398H and NOD2 R702W. (bvsalud.org)

Here, we review the major advances in identification of mutations or polymorphisms of the ATG genes in human diseases. (nature.com)
Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. (routledge.com)
This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. (routledge.com)
However, the relationship between polymorphisms in the WDR4 gene and susceptibility to Wilms tumor remains to be fully investigated. (jcancer.org)
The prototype prion disease is scrapie in sheep, and, whereas, Prnp exhibits common missense polymorphisms for V136A, R154H and Q171R in ovine populations, genetic variation in mouse Prnp is limited. (usda.gov)
Principal Findings: Paralleling the case for ovine versus human and murine PRNP, we failed to detect significant coding polymorphisms that alter the mature Sho protein in a sample of neurologically normal humans, or in diverse strains of mice. (usda.gov)

Table 1 summarizes the association between genetic variants of autophagy-related genes and selected human diseases. (nature.com)
The current research is aimed at assessing the correlation between two functional GAS5 variants (rs145204276 and rs55829688) and susceptibility to IS in a Han Chinese population. (hindawi.com)
Variants in the GAS5 promoter region have been reported to be linked to mutiple diseases. (hindawi.com)
By the 1990s, OMIM was adding more than 150 disease-related genetic variants per year, nearly all of them rare mutations discovered in families ( 1 ). (cdc.gov)
Recently, NCBI embraced these efforts by allowing users to search, annotate, and submit human genome sequence variants to the dbSNP database by using HGVS standard nomenclature ( 11 ). (cdc.gov)
The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
On 09/13/17, NIH grant R01 MH101244 "Rare and common variants in complex disease" (4 PIs: Sunyaev/Price/Kraft/Neale) was awarded to Alkes Price as a subcontract with BWH (Shamil Sunyaev)/NIMH. (harvard.edu)
These sequence variants, along with variants controlling dysregulated gene expression that we characterised previously, most likely include the major determinants of SHR cardiovascular and metabolic disease phenotypes. (europa.eu)
There are multiple types of variants in human genomes, ranging from small differences to large differences. (genome.gov)
A very small subset of genomic variants contributes to human health and disease. (genome.gov)
Researchers create reference human genome sequences to help detect genomic variants in each sequenced human genome. (genome.gov)
The differences among human genomes are called genomic variants. (genome.gov)
Insertion/deletion variants are less frequent than SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that encodes an important protein). (genome.gov)
To address this problem, we hypothesized that genes contributing to leprosy susceptibility differ in their frequencies of rare protein-altering variants between cases and controls. (bvsalud.org)
The MHC/HLA region has been consistently identified as carrying major leprosy susceptibility variants in different populations at times with inconsistent results. (bvsalud.org)

Prion diseases are a diverse group of neurodegenerative diseases, caused by prion protein misfolding. (bmj.com)

Indeed, genome-wide studies have identified disease-associated loci and genes in many human diseases. (nature.com)
2018). Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. (harvard.edu)
Finally, utilizing a Mendelian randomization approach, we identify the causal route by which 305 risk loci contribute to autoimmune disease at the cellular level. (iscb.org)
Rare SVs are more likely to disrupt coding and regulatory non-coding loci, particularly when truncating constrained and disease-associated genes. (biomedcentral.com)
In the past decade, genetic epidemiology approaches, including genome-wide association studies (GWAS), identified more than 30 loci contributing to leprosy susceptibility. (bvsalud.org)

High-resolution linkage mapping for susceptibility genes in human polygenic disease: insulin-dependent diabetes mellitus and chromosome 11q. (ox.ac.uk)

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disease. (wikipedia.org)
Mendelian susceptibility to mycobacterial disease may be suspected in people with disseminated infections caused by environmental mycobacteria or BCG. (wikipedia.org)
Leprosy is the second most prevalent mycobacterial disease globally. (bvsalud.org)
Worldwide, more than 200,000 new patients are affected by leprosy annually, making it the second most common mycobacterial disease after tuberculosis. (bvsalud.org)

Human immunodeficiency virus (HIV) infection results from 1 of 2 similar retroviruses (HIV-1 and HIV-2) that destroy CD4+ lymphocytes and impair cell-mediated immunity, increasing risk of certain infections and cancers. (msdmanuals.com)
Human Immunodeficiency Virus (HIV) Infection in Infants and Children Human immunodeficiency virus (HIV) infection is caused by the retrovirus HIV-1 (and less commonly by the related retrovirus HIV-2). (msdmanuals.com)
Human immunodeficiency virus (HIV) is a retrovirus. (msdmanuals.com)
including human immunodeficiency virus (HIV) infections and preterm birth. (bvsalud.org)

[ 1 ] Included are Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker (GSS) in humans, bovine spongiform encephalopathy (BSE, or "mad cow disease") in cattle, chronic wasting disease (CWD) in mule deer and elk, and scrapie in sheep. (medscape.com)
For related information, see Medscape Reference article Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy . (medscape.com)
Bovine spongiform encephalopathy (BSE), also known as mad cow disease, and variant Creutzfeldt-Jakob disease (CJD) are related disorders. (medscape.com)
Incidence of bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (CJD) in Great Britain. (medscape.com)
Brown P. The risk of bovine spongiform encephalopathy ('mad cow disease') to human health. (medscape.com)

Wonil Chung, Omer Weissbrod and Margaux Hujoel were awarded as semifinalists for the Charles J. Epstein Trainee Award for Excellence in Human Genetic Research for the 2018 American Society of Human Genetics Conference in San Diego, California this October. (harvard.edu)
Zhaozhong Zhu was selected to present a poster presentation with top 10% reviewers' score at the 2018 American Society of Human Genetics Conference in San Diego, California this October. (harvard.edu)
To perform a statistical analysis, to find connections between human genetics and disease susceptibility. (ukbiobank.ac.uk)

2018) Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. (harvard.edu)

When dysfunctional in humans, these genes can lead to inherited diseases, susceptibility to cancers and other health problems. (genomecanada.ca)

The 8q24 locus, which contains the thyroglobulin (Tg) gene, was previously shown to be strongly linked with autoimmune thyroid disease (AITD). (elsevierpure.com)
We study patients with poorly characterized, inherited immunodeficiencies and autoimmune diseases, often lacking molecular diagnoses. (nih.gov)
The human immune system displays remarkable variation between individuals, leading to differences in susceptibility to autoimmune disease. (iscb.org)
Human resistance to infection, cancer and autoimmune diseases relies on the ability of our immune system to recognise 'self' and 'foreign' molecules. (ukbiobank.ac.uk)
The likelihood of developing certain infections, autoimmune diseases, or inflammatory conditions varies greatly, depending on where in the world your ancestors hailed. (bigthink.com)
A more active immune system comes with a higher risk of autoimmune disorders, such as Crohn's disease. (bigthink.com)

Since most studies are carried out on non-African populations (Asians and Caucasians), a smaller portion of the overall human genome's diversity is interrogated and results from replication studies do not always concur. (cambridge.org)
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)
Shadoo from human and mouse populations showed relatively little genetic diversity compared to sheep. (usda.gov)
The human pangenome is a more comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases that can come with the use of a single reference human genome sequence. (genome.gov)

Despite being a relatively common disease, the precise molecular mechanisms for the onset of ischemic stroke (IS) are still incompletely understood, with both environmental and genetic factors being implicated in this disease in a complex manner. (hindawi.com)
The Human Immunological Diseases Section (HIDS) carries out research to understand the molecular mechanisms regulating the human immune system and how their derangements cause disease. (nih.gov)

One copy of the human genome contains about 3 billion nucleotides, which are distributed among 23 chromosomes. (genome.gov)

More than 45% of Americans suffer from at least one chronic condition, and 70% of all deaths in America are attributable to chronic disease. (latimes.com)
Devastating chronic disease will be with us long after this pandemic recedes unless we make major changes in how we promote health and treat illness. (latimes.com)
Leprosy is a chronic disease caused by Mycobacterium leprae. (bvsalud.org)

Natural products have been used for a long time to treat various human diseases. (frontiersin.org)

This report (hereafter referred to as STD QCS ) provides CDC recommendations to U.S. health care providers regarding quality clinical services for sexually transmitted diseases (STDs) for primary care and STD specialty care settings. (cdc.gov)
These recommendations complement CDC's Sexually Transmitted Diseases Treatment Guidelines, 2015 (hereafter referred to as the STD Guidelines ) , a comprehensive, evidence-based reference for prevention, diagnosis, and treatment of STDs. (cdc.gov)

Following symptoms and signs are: recurrent wheezing dyspnea asthma-like symptoms recurring fever productive cough endobronchial mycobacterial infection low hemoglobin Patients with IFNγR1 deficiency can also suffer of disorders of the lung, parenchymal lung diseases caused by mycobacterial infections, hylar lymphadenopathy, or endobronchial disease. (wikipedia.org)
A cell-based prion infection assay did not confirm the role of PARK2 in prion disease susceptibility. (bmj.com)

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)
Distinguishing genetic correlation from causation across 52 diseases and complex traits. (harvard.edu)

Rodent models offer significant advantages for analysis of disease phenotypes. (europa.eu)
These proposals provide a systematic route to elucidating the molecular and functional basis of disease phenotypes in SHR and WKY rats, and for translating these findings to advance understanding of common human diseases. (europa.eu)

Genetic defects impairing the IL12/IFNγ pathway increase the susceptibility to mycobacterial infections by impeding either the production or the response to IFNγ. (wikipedia.org)
We are particularly interested in combined immunodeficiencies that lead to susceptibility to virus infections. (nih.gov)
We are also interested in inherited defects of innate immunity that can cause increased susceptibility to virus infections, especially those targeting the respiratory tract. (nih.gov)
Last but not least, the use of antibiotics in agriculture is an important factor in the worldwide spread of antibiotic resistance and leads to an increasing number of infections in plants, livestock, wild animals and humans by antibiotic-resistant bacteria. (uni-ulm.de)

Investigators are increasingly using comparative genomics to explore areas ranging from human development and behavior to metabolism and susceptibility to disease. (genome.gov)

With the rapid social and economic development in recent decades, the proportion of the elderly has increased rapidly worldwide, and many aging-related diseases have shown an upward trend, including nervous system diseases, cardiovascular diseases, metabolic diseases, and cancer. (frontiersin.org)

The international Human Genome Project's early commitment to data sharing helped stimulate the construction of other, online genomic data repositories and tools for use by researchers and the public. (cdc.gov)
Genomic data are relevant to public health to the extent that they can be translated into knowledge useful for prevention, prediction, diagnosis, and treatment of disease. (cdc.gov)
Human genome epidemiology is the basic science for translating genomic research, relating genetic variation with variability in health status among well-defined groups of people. (cdc.gov)
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)
These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)
This genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases. (genome.gov)
Some researchers are using comparative genomics to reveal the genomic underpinnings of disease in animals with the hope of gaining new insights into disease development in humans. (genome.gov)

However, these experimental results do not directly demonstrate that defects in autophagy contribute to pathogenesis of human diseases. (nature.com)
In this chapter, revisiting known TFs, we would argue if transcription controlling strategies could contribute for the novel therapies on human diseases. (intechopen.com)

We used a cell-free seeded protein misfolding assay to determine whether CWD prions from elk, white-tailed deer, and reindeer in North America can convert the human prion protein to the disease-associated form. (cdc.gov)
We found that prions can convert, but the efficiency of conversion is affected by polymorphic variation in the cervid and human prion protein genes. (cdc.gov)
In contrast to these in vivo approaches, we have used protein misfolding cyclic amplification (PMCA) to investigate the molecular compatibility of bovine, ovine, and cervid prions with full-length, glycosylated and glycosylphosphatidylinositol-anchored human prion protein (PrP) ( 15 , 16 ). (cdc.gov)
The replication of prions involves the recruitment of the normally expressed prion protein, which has mainly an alpha-helical structure, into a disease-specific conformation that is rich in beta-sheet. (medscape.com)
These amyloid plaques are immunoreactive with antibodies to the prion protein and do not immunoreact with antibodies to other amyloidogenic proteins, such as the amyloid-beta (which is deposited in Alzheimer disease). (medscape.com)
The prion gene and its encoded prion protein have long been known to play a central role in prion diseases. (usda.gov)

We have used a set of polymorphic DNA markers from chromosome 11q to investigate this region for linkage to a susceptibility gene in 81 multiplex diabetic pedigrees. (ox.ac.uk)
This result illustrates the feasibility that IDDM linkage studies using mapped sets of polymorphic DNA markers have, both for other areas of the genome in IDDM and for other polygenic diseases. (ox.ac.uk)
Genes will be prioritised for study by statistical and informatic analyses using our extensive physiological, gene expression and linkage data in these rat strains, and by comparative analysis with data from human genome-wide association studies. (europa.eu)
Our results show that deep resequencing can identify leprosy candidate susceptibility genes that had been missed by classic linkage and association approaches. (bvsalud.org)
This susceptibility signal could be reduced to the HLA-DRB1*10:01~ HLA-DQA1*01:05 alleles which were in complete linkage disequilibrium (LD). (bvsalud.org)

We describe three families with autosomal dominant CMT1, among whom a family member with a neoplastic disease suffered rapid onset, severe neuropathy after receiving initial doses of vincristine as a part of a routine chemotherapy protocol. (nih.gov)
Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)
Earlier age of onset necessitates inclusion of disorders such as Wilson disease in the differential diagnosis. (medscape.com)

The Human Genome Variation Society (HGVS) has begun a grass-roots effort to compile a list of locus-specific databases (LSDBs), which are curated collections of mutations, often reported with associated phenotypic information ( 10 ). (cdc.gov)
More specifically, the team of Canadian researchers led by Dr. Philip Awadalla discovered the following: the segments of the human genome that don't recombine as often as others also tend to carry a significantly greater proportion of the more disease-enabling genetic mutations. (sciencedaily.com)
Thankfully, disease-enabling mutations are eventually shuffled off our genetic code through sexual reproduction. (sciencedaily.com)
It also tells scientists more precisely where to look in the human genome to find disease-enabling mutations, he adds, which should speed up the discovery and identification of mutations associated with specific diseases. (sciencedaily.com)
They found that the proportion of mutations associated with disease was significantly higher in low recombining segments known as "coldspots" relative to highly recombining regions, and that the bad mutations in these coldspots were generally more damaging than the mutations in the highly recombining segments. (sciencedaily.com)
African individuals showed the smallest relative proportion of disease-associated mutations on their genome's coldspots, with Western Europeans showing the largest. (sciencedaily.com)
Identified mutations in approximately 2,000 genes, several of which are homologous to human disease genes. (genomecanada.ca)

Several studies have reviewed the effects of individual natural compounds on aging and aging-related diseases along with the underlying mechanisms. (frontiersin.org)
Recent genetic studies have identified hundreds of susceptibility genes for common human diseases but genetic effects are small and identifying underlying mechanisms remains challenging. (europa.eu)

Chronic wasting disease (CWD) is a contagious and fatal neurodegenerative disease and a serious animal health issue for deer and elk in North America. (cdc.gov)
CWD is a pressing animal health issue, but whether it might become a human public health issue should also be considered. (cdc.gov)
In contrast, sheep scrapie is generally considered to be of no or only very low risk to human health, although this possibility has been questioned recently ( 5 , 6 ). (cdc.gov)
The National Institute for Occupational Safety and Health (NIOSH) is pleased to welcome you to the Spring issue of AgConnections, a newsletter dedicated to disseminating information about the NIOSH Centers for Agricultur al Disease and Injury Research, Education, and Prevention. (cdc.gov)
1. Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, Guangdong, China. (jcancer.org)
The rising burden of aging-related diseases has become an urgent global health challenge and requires immediate attention and solutions. (frontiersin.org)
The pandemic has made our national sickness more acute and illustrated the critical importance of "wellness" in preventing disease and optimizing health. (latimes.com)
In contrast, wellness is the absence of disease in the body, and the most powerful force in human health. (latimes.com)
While "preventive medicine" seeks earlier detection of already established disease, scientific wellness gives medical providers a new way of treating patients based on a data-informed understanding of their personal health. (latimes.com)
Their diversity is essential to human health. (latimes.com)
These interactions are of crucial importance for human and environmental health, as described in the OneHealth concept. (uni-ulm.de)
One worthwhile downstream effect of this work would be improved health and quality of life in countries ravaged by nematode diseases (e.g., river blindness). (genomecanada.ca)
It helps us to further understand what genes relate to various biological systems, which in turn may translate into innovative approaches for treating human disease and improving human health. (genome.gov)
On January 26, 2004, the US Food and Drug Administration (FDA) announced new rules to further strengthen existing protection against BSE, including banning a wide range of bovine material from human food ( United States Department of Health and Human Services, Expanded "Mad Cow" Safeguards Announced To Strengthen Existing Firewalls Against BSE Transmission ). (medscape.com)
9 On a regional scale, a review of the impacts of climate change on human health provided more evidence of the burden of climate change-attributable diseases and emphasized the uncertainty in attributing diseases to climate change, owing to a lack of long-term, high-quality data. (who.int)

Consequently, approaches to understanding the zoonotic risk for prion transmission to humans have been empirical, involving in vivo and in vitro models ( 7 ). (cdc.gov)
This discovery gives us a better understanding of how we, as humans, become more or less at risk of developing or contracting diseases," says Dr. Awadalla. (sciencedaily.com)
Our work has the potential to identify a large group of people at risk of certain disease types and will identify a new avenue in which to potentially treat these people and overcome this issue. (ukbiobank.ac.uk)
Background: Chronic conditions increase the risk of invasive pneumococcal diseases (IPD). (bvsalud.org)
Among high-risk comorbidity (n = 211), cancer (28%), HIV/AIDS (25.7%) and hematological diseases (24.5%) were the most frequent. (bvsalud.org)

In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)

These diseases all have long incubation periods but are typically rapidly progressive once clinical symptoms begin. (medscape.com)
For our studies, we bring in patients to the NIH Clinical Center for detailed clinical and research investigations, where we follow their natural history of disease. (nih.gov)
[ 10 , 11 ] Most of these infected animals were slaughtered for human consumption before any clinical signs of BSE were noted. (medscape.com)

Several studies have shown that light is the most potent cue used by most organisms (humans included) to synchronize daily activities. (researchgate.net)
The present study examined the natural genetic variation in shadoo genes from humans and the model organisms mice and sheep. (usda.gov)
C. elegans, a tiny roundworm that has been extensively studied to provide insight into the workings of other organisms, has about 7,000 genes in common with the human genome. (genomecanada.ca)
A study discovered that about 60 percent of genes are conserved between fruit flies and humans, meaning that the two organisms appear to share a core set of genes. (genome.gov)
Although mammalian models provide vital insights into the underlying pathology of these diseases, aquatic organisms such as Xenopus and zebrafish provide valuable tools to help screen and dissect out the underlying causes of these diseases. (xenbase.org)
In this review we focus on recent studies that identify or describe different types of human ciliopathies and outline how aquatic organisms have aided our understanding of these diseases. (xenbase.org)

Because psychiatric symptoms and limb pain are common presenting symptoms in variant Creutzfeldt-Jakob Disease (CJD), a workup for the disease in the early stage may be quite challenging. (medscape.com)
Fact Sheet: New Variant Creutzfeldt-Jakob Disease. (medscape.com)
vCJD (Variant Creutzfeldt-Jakob Disease). (medscape.com)
Variant Creutzfeldt-Jakob Disease. (medscape.com)

In addition to genes mapping to the major histocompatibility complex (MHC), several lines of evidence point to the existence of other genetic susceptibility factors. (ox.ac.uk)
Physiological aging refers to the physiological degeneration occurring after maturity, while pathological aging involves age-related changes caused by various external factors such as various diseases. (frontiersin.org)
Among other factors, natural variation in the prion gene has been associated with disease susceptibility. (usda.gov)
To establish the unambiguous molecular identity of classical HLA class I and class II leprosy susceptibility factors, we applied next-generation sequencing to genotype with high-resolution 11 HLA class I and class II genes in 1,155 individuals from a Vietnamese leprosy case-control sample. (bvsalud.org)
Several recent studies have aimed to better understand the dynamics of dengue and the influences of environmental factors on the disease and to better predict outbreaks. (who.int)

This defective presentation of foreign fragments may mean some peoples immune system cannot detect and fight disease appropriately. (ukbiobank.ac.uk)

1 Furthermore, lockdowns often prevent or discourage people from accessing treatment for unrelated conditions, leading to increased deaths from cancer 2 and other disease. (bmj.com)
Once heart disease sets in, cancer spreads or Alzheimer's takes root, it's too late. (latimes.com)
For example, 91% of a population we studied had very low vitamin D levels (low levels probably increase susceptibility to cancer, Alzheimer's, COVID-19 and other diseases). (latimes.com)
Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)

Our findings suggest that fish feces interact with elevated sea surface temperatures to favor microbial opportunism and enhance dysbiosis susceptibility in P. lobata . (frontiersin.org)

2021), Aquatic models of human ciliary diseases. (xenbase.org)

The latter led to discoveries of genetic defects and neutralizing anti-cytokine autoantibodies that highlight the importance of type I IFN pathways for antiviral innate immunity against SARS-CoV-2 in humans. (nih.gov)
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (xenbase.org)

The Human Genome Organization (HUGO) was founded in 1988 to foster coordination among large-scale human genome mapping and sequencing projects around the world. (cdc.gov)
Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)

This review focuses on the role of macroautophagy (hereafter referred to as autophagy) in human diseases. (nature.com)

Recent studies of the nonobese diabetic mouse (NOD) model of IDDM have suggested the presence, on mouse chromosome 9, of a susceptibility gene linked to the locus encoding the T-cell antigen, Thy-1. (ox.ac.uk)
Gene-gene interaction studies provided evidence for an interaction between HLA-DR3 and the exon 33 SNP, giving an odds ratio of 6.1 for Graves' disease. (elsevierpure.com)
The patient's loss of MDA5 demonstrated the physiological importance of this cytosolic viral nucleic acid sensor for immunity against the common cold virus, and studies are ongoing to determine how MDA5 physiologically contributes in protecting against other viruses in humans. (nih.gov)
However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. (biomedcentral.com)

2018). Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. (harvard.edu)
2018). Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. (harvard.edu)

Thus, it has become particularly important to understand the genetic basis of putative human autophagy-related diseases. (nature.com)

This raises the possibility that, like the prion gene, genetic variation in shadoo may influence prion disease. (usda.gov)
Ecogenetics : genetic variation in susceptibility to environmental agents / Edward J. Calabrese. (who.int)

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