Articles
Page 12 of 14
-
Citation: Human Genomics 2009 3:332
-
Protein-protein interaction databases: keeping up with growing interactomes
Over the past few years, the number of known protein-protein interactions has increased substantially. To make this information more readily available, a number of publicly available databases have set out to ...
Citation: Human Genomics 2009 3:291 -
Human ATP-binding cassette (ABC) transporter family
There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of A...
Citation: Human Genomics 2009 3:281 -
A biophysical mechanism may control the collinearity of Hoxdgenes during the early phase of limb development
A biophysical model has been proposed which deals with the observed collinearity of Hox gene expressions in developing vertebrate limbs. It is assumed that physical forces gradually dislocate the genes of the Hox...
Citation: Human Genomics 2009 3:275 -
Pharmacogenetics of antidepressant response: An update
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. Th...
Citation: Human Genomics 2009 3:257 -
Approaches to analyse dynamic microbial communities such as those seen in cystic fibrosis lung
Microbial communities play vital roles in many aspects of our lives, although our understanding of microbial biogeography and community profiles remains unclear. The number of microbes or the diversity of the ...
Citation: Human Genomics 2009 3:246 -
Exploring the relationship between polymorphic (TG/CA) n repeats in intron 1 regions and gene expression
The putative role of (TG/CA) n repeats in the regulation of transcription has recently been reported for several cancer- and disease-related genes, including the genes encoding t...
Citation: Human Genomics 2009 3:236 -
A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease
Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease ri...
Citation: Human Genomics 2009 3:221 -
Association of ADHIB and ALDH2gene polymorphisms with alcohol dependence: A pilot study from India
Functional polymorphism in the genes encoding alcohol dehydrogenase (ADH) 1B and aldehyde dehydrogenase (ALDH) 2 are considered most important among several genetic determinants of alcohol dependence, a comple...
Citation: Human Genomics 2009 3:213 -
Editorial
Citation: Human Genomics 2009 3:211 -
Rebels, Mavericks and Heretics in Biology: Oren Harman and Michael R. Dietrich (Editors) Yale University Press, New Haven, CT, USA; 2008
Citation: Human Genomics 2009 3:207 -
Analysis and update of the human solute carrier (SLC) gene superfamily
The solute-carrier gene (SLC) superfamily encodes membrane-bound transporters. The SLC superfamily comprises 55 gene families having at least 362 putatively functional protein-coding genes. The gene products incl...
Citation: Human Genomics 2009 3:195 -
Association tests and software for copy number variant data
Recent studies have suggested that copy number variation (CNV) significantly contributes to genetic predisposition to several common disorders. These findings, combined with the imperfect tagging of CNVs by si...
Citation: Human Genomics 2009 3:191 -
Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects
Pharmacogenetics enables personalised therapy based on genetic profiling and is increasingly applied in drug discovery. Medicines are developed and used together with pharmacodiagnostic tools to achieve desire...
Citation: Human Genomics 2009 3:169 -
LIPEC-60G influences the effects of physical activity on body fat and plasma lipid concentrations: the Quebec Family Study
A large body of evidence suggests that the environment plays an important role in the development of obesity. The hormone-sensitive lipase (encoded by the LIPE gene) is an intracellular enzyme that mobilises fat ...
Citation: Human Genomics 2009 3:157 -
Orientation, distance, regulation and function of neighbouring genes
The sequencing of the human genome has allowed us to observe globally and in detail the arrangement of genes along the chromosomes. There are multiple lines of evidence that this arrangement is not random, bot...
Citation: Human Genomics 2009 3:143 -
Whole-genome approach implicates CD44in cellular resistance to carboplatin
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 carboplat...
Citation: Human Genomics 2009 3:128 -
Effect of the allelic variants of aldehyde dehydrogenase ALDH2*2 and alcohol dehydrogenase ADH1B*2on blood acetaldehyde concentrations
Alcoholism is a complex behavioural disorder. Molecular genetics studies have identified numerous candidate genes associated with alcoholism. It is crucial to verify the disease susceptibility genes by correla...
Citation: Human Genomics 2009 3:121 -
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency
Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes neces...
Citation: Human Genomics 2009 3:106 -
Alleles of alcohol and acetaldehyde metabolism genes modulate susceptibility to oesophageal cancer from alcohol consumption
Citation: Human Genomics 2009 3:103 -
Editorial
Citation: Human Genomics 2009 3:101 -
Biosimulation in Drug Development: Martin Bertau, Erik Mosekilde, Hans V. Westerhoff
Citation: Human Genomics 2008 3:98 -
Update on the olfactory receptor (OR) gene superfamily
The olfactory receptor gene (OR) superfamily is the largest in the human genome. The superfamily contains 390 putatively functional genes and 465 pseudogenes arranged into 18 gene families and 300 subfamilies. Ev...
Citation: Human Genomics 2008 3:87 -
A survey of genetic simulation software for population and epidemiological studies
A number of programs have been developed for simulating population genetic and genetic epidemiological data conforming to one of three main algorithmic approaches: 'forwards', 'backwards' and 'sideways'. This ...
Citation: Human Genomics 2008 3:79 -
Mitochondrial DNA sequence variation and neurodegeneration
Mitochondria, the powerhouse of the cell, play a critical role in several metabolic processes and apoptotic pathways. Many lines of evidence suggest that mitochondria have a central role in ageing-related neur...
Citation: Human Genomics 2008 3:71 -
Genome-wide identification of genetic determinants for the cytotoxicity of perifosine
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 t...
Citation: Human Genomics 2008 3:53 -
Hardy-Weinberg analysis of a large set of published association studies reveals genotyping error and a deficit of heterozygotes across multiple loci
In genetic association studies, deviation from Hardy-Weinberg equilibrium (HWD) can be due to recent admixture or selection at a locus, but is most commonly due to genotyping errors. In addition to its utility...
Citation: Human Genomics 2008 3:36 -
The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population
Liver cystolic aldehyde dehydrogenase 1 (ALDH1A1) has been previously associated with both alcohol dependence and alcohol consumption behaviour, and has been implicated in alcohol-induced flushing and alcohol ...
Citation: Human Genomics 2008 3:24 -
A high incidence of polymorphic CYP2C19variants in archival blood samples from Papua New Guinea
There is considerable inter-ethnic variability in the incidence of CYP2C19 genetic poor metabolisers (var/var). About 3 per cent of Caucasians are CYP2C19 var/var. By contrast, an extremely high incidence (70 per...
Citation: Human Genomics 2008 3:17 -
Influence of SLCO1B1 and CYP2C8gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers
Polymorphisms in drug transporter genes and/or drug-metabolising enzyme genes may contribute to inter-individual variability in rosiglitazone pharmacokinetics in humans. We sought to determine the joint effect...
Citation: Human Genomics 2008 3:7 -
Guest Editorial
Citation: Human Genomics 2008 3:3 -
Editorial
Citation: Human Genomics 2008 3:1 -
Bioinformatics methods for identifying candidate disease genes
With the explosion in genomic and functional genomics information, methods for disease gene identification are rapidly evolving. Databases are now essential to the process of selecting candidate disease genes....
Citation: Human Genomics 2006 2:429 -
Genome-wide approaches to understanding human ageing
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 ...
Citation: Human Genomics 2006 2:422 -
Genetic association studies in cancer: Good, bad or no longer ugly?
For some time, investigators have appreciated that genetic association studies in cancer are complex because of the multi-stage process of cancer and the daunting challenge of analysing genetic variants in pop...
Citation: Human Genomics 2006 2:415 -
Strategies for the detection of copy number and other structural variants in the human genome
Advances in genome scanning technologies are revealing that copy number variants (CNVs) and polymorphisms, ranging from a few kilobases to several megabases in size, are present in genomes at frequencies much ...
Citation: Human Genomics 2006 2:403 -
Functional single nucleotide polymorphism-based association studies
Association studies hold great promise for the elucidation of the genetic basis of diseases. Studies based on functional single nucleotide polymorphisms (SNPs) or on linkage disequilibrium (LD) represent two m...
Citation: Human Genomics 2006 2:391 -
From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation
Much of the focus of human disease genetics is directed towards identifying nucleotide variants that contribute to disease phenotypes. This is a complex problem, often involving contributions from multiple loc...
Citation: Human Genomics 2006 2:383 -
Stepwise haplotype analysis: Are LD patterns repeatable?
A variety of techniques exist to describe and depict patterns of pairwise linkage disequilibrium (LD). In the current paper, a new log-linear framework is proposed for the summarisation of local interactions a...
Citation: Human Genomics 2006 2:376 -
Genetic factors leading to chronic Epstein-Barr virus infection and nasopharyngeal carcinoma in South East China: Study design, methods and feasibility
Nasopharyngeal carcinoma (NPC) is a complex disease caused by a combination of Epstein-Barr virus chronic infection, the environment and host genes in a multi-step process of carcinogenesis. The identity of ge...
Citation: Human Genomics 2006 2:365 -
A non-parametric approach to population structure inference using multilocus genotypes
Inference of population structure from genetic markers is helpful in diverse situations, such as association and evolutionary studies. In this paper, we describe a two-stage strategy in inferring population st...
Citation: Human Genomics 2006 2:353 -
Testing groups of genomic locations for enrichment in disease loci using linkage scan data: A method for hypothesis testing
Genes for complex disorders have proven hard to find using linkage analysis. The results rarely reach the desired level of significance and researchers often have failed to replicate positive findings. There i...
Citation: Human Genomics 2006 2:345 -
Letter to the Editor
Citation: Human Genomics 2006 2:343 -
Genome-wide association studies getting more complicated but help is on the way
Citation: Human Genomics 2006 2:341 -
A survey of data mining methods for linkage disequilibrium mapping
Data mining methods are gaining more interest as potential tools in mapping and identification of complex disease loci. The methods are well suited to large numbers of genetic marker loci produced by high-thro...
Citation: Human Genomics 2006 2:336 -
Update of the NAD(P)H:quinone oxidoreductase (NQO) gene family
The NAD(P)H:quinone acceptor oxidoreductase (NQO) gene family belongs to the flavoprotein clan and, in the human genome, consists of two genes (NQO1 and NQO2). These two genes encode cytosolic flavoenzymes that c...
Citation: Human Genomics 2006 2:329 -
Detecting multiple associations in genome-wide studies
Recent developments in the statistical analysis of genome-wide studies are reviewed. Genome-wide analyses are becoming increasingly common in areas such as scans for disease-associated markers and gene express...
Citation: Human Genomics 2006 2:310 -
Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The molecula...
Citation: Human Genomics 2006 2:297 -
Letter to the Editor
Citation: Human Genomics 2006 2:272 -
Editorial
Citation: Human Genomics 2006 2:271
Follow
Annual Journal Metrics
-
Speed
39 days to first decision for all manuscripts
46 days first decision for reviewed manuscripts only
113 days from submission to acceptance
19 days from acceptance to publicationCitation Impact
4.639 - 2-year Impact Factor
4.860 - 5-year Impact Factor
1.018 - Source Normalized Impact per Paper (SNIP)
1.414 - SCImago Journal Rank (SJR)Usage
461,525 Downloads (2021)
216 Altmetric Mentions