Abstract:
BACKGROUND:Neurodegenerative diseases (NGDs) such as Alzheimer's and Parkinson's are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environment. MAIN BODY:The symptoms of NGDs differ among individuals due to their genetic background, and this variation affects the onset and progression of NGD and NGD-like states. Such genetic variation affects the molecular and cellular processes underlying NGDs, leading to differential clinical phenotypes. So far, we have a limited understanding of the mechanisms of individual background variation. Here, we consider how variation between genetic backgrounds affects the mechanisms of aging and proteostasis in NGD phenotypes. We discuss how the nematode Caenorhabditis elegans can be used to identify the role of variation between genetic backgrounds. Additionally, we review advances in C. elegans methods that can facilitate the identification of NGD regulators and/or networks. CONCLUSION:Genetic variation both in disease genes and in regulatory factors that modulate onset and progression of NGDs are incompletely understood. The nematode C. elegans represents a valuable system in which to address such questions.
journal_name
Hum Genomicsjournal_title
Human genomicsauthors
Wang YA,Kammenga JE,Harvey SCdoi
10.1186/s40246-017-0108-4subject
Has Abstractpub_date
2017-05-25 00:00:00pages
12issue
1eissn
1473-9542issn
1479-7364pii
10.1186/s40246-017-0108-4journal_volume
11pub_type
杂志文章,评审相关文献
Human Genomics文献大全abstract::Perifosine belongs to the class of alkylphospholipid analogues, which act primarily at the cell membrane, thereby targeting signal transduction pathways. In phase I/II clinical trials, perifosine has induced tumour regression and caused disease stabilisation in a variety of tumour types. The genetic determinants respo...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-3-1-53
更新日期:2008-09-01 00:00:00
abstract:BACKGROUND:Genetic factors such as single-nucleotide polymorphisms (SNPs) play a key role in the development of postoperative nausea and vomiting (PONV). However, previous findings are not widely applicable to different populations because of population-specific genetic variation. We developed a Japanese-specific DNA m...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-020-00282-4
更新日期:2020-09-14 00:00:00
abstract:BACKGROUND:Microbes are greatly associated with human health and disease, especially in densely populated cities. It is essential to understand the microbial ecosystem in an urban environment for cities to monitor the transmission of infectious diseases and detect potentially urgent threats. To achieve this goal, the D...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-019-0224-4
更新日期:2019-10-22 00:00:00
abstract:BACKGROUND:Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrom...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-018-0133-y
更新日期:2018-01-19 00:00:00
abstract::Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid, betaine and gamma-aminobutyric acid. ALDHs exhibit additional, non-enz...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-5-4-283
更新日期:2011-05-01 00:00:00
abstract::The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-2-6-422
更新日期:2006-06-01 00:00:00
abstract::Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-3-2-128
更新日期:2009-01-01 00:00:00
abstract::The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances. This review focuses on the pharmacogenetics of the antidepressant response through the analysis and discussion o...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-3-3-257
更新日期:2009-04-01 00:00:00
abstract::The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This exclusion is significant, since the X chromosome contains a high density of immune-related genes and regulator...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/s40246-018-0185-z
更新日期:2019-01-08 00:00:00
abstract::Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA targets present limited design options to lower GC-content sequences only. We have developed the MGB Eclipse Pro...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-3-209
更新日期:2004-03-01 00:00:00
abstract::Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other extra-ribosomal functions, such in replication, transcription, splicing or even ageing. This review provides a ...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-4-5-327
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-017-0097-3
更新日期:2017-02-20 00:00:00
abstract::Matrix metalloproteinases (MMPs) are a family of zinc proteases that degrade most of the components of the extracellular matrix (ECM). MMPs also have a number of non-traditional roles in processing factors related to cell growth/proliferation, inflammation and more. There are 23 human MMPs and 23 mouse MMPs, most of w...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-4-3-194
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-018-0132-z
更新日期:2018-01-15 00:00:00
abstract:BACKGROUND:The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not been systematically st...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-017-0122-6
更新日期:2017-11-09 00:00:00
abstract::Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are li...
journal_title:Human genomics
pub_type: 杂志文章,多中心研究
doi:10.1186/1479-7364-5-5-420
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND:Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence demonstrates that dysfunctional TBX2 and TBX3 result in outflow tract malformations, implying that ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-018-0176-0
更新日期:2018-09-17 00:00:00
abstract::The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondrial analysis as a vital component of medical research. Moreover, mitochondria have been implicated in the proce...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-2-4-252
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-018-0178-y
更新日期:2018-10-04 00:00:00
abstract::The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/dupl...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-1-2-126
更新日期:2004-01-01 00:00:00
abstract::The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-6-456
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis i...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-020-00294-0
更新日期:2020-12-07 00:00:00
abstract:BACKGROUND:Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-015-0028-0
更新日期:2015-05-10 00:00:00
abstract::The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In a...
journal_title:Human genomics
pub_type: 杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract::Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) ...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/s40246-016-0088-9
更新日期:2016-09-23 00:00:00
abstract:BACKGROUND:Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncodi...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-018-0135-9
更新日期:2018-01-25 00:00:00
abstract:UNLABELLED:Protein kinases play important roles in regulating signal transduction in eukaryotic cells. Due to evolutionary conserved binding sites in the catalytic domain of the kinases, most inhibitors that target these sites promiscuously inhibit multiple kinases. Quantitative analysis can reveal complex and unexpect...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-7-20
更新日期:2013-09-23 00:00:00
abstract::In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger, as well as the globin-like fold. We show that indeed similar structures exist...
journal_title:Human genomics
pub_type: 杂志文章,评审
doi:10.1186/1479-7364-6-10
更新日期:2012-08-02 00:00:00
abstract::In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/1479-7364-1-1-20
更新日期:2003-11-01 00:00:00
abstract::The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated translation. Examples of potential disruptors such as laboratory-developed tests, direct-to-consumer testing, and...
journal_title:Human genomics
pub_type: 杂志文章
doi:10.1186/s40246-015-0032-4
更新日期:2015-06-14 00:00:00