Articles
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Citation: Human Genomics 2009 4:66
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The Cytochrome P450 Homepage
The Cytochrome P450 Homepage is a universal resource for nomenclature and sequence information on cytochrome P450 (CYP) genes. The site has been in continuous operation since February 1995. Currently, naming info...
Citation: Human Genomics 2009 4:59 -
Genomics software: The view from 10,000 feet
The rate of change in genomics, and 'omics generally, shows no signs of slowing down. Related analysis software is struggling to keep apace. This paper provides a brief review of the field.
Citation: Human Genomics 2009 4:56 -
Evolutionary divergence and functions of the ADAM and ADAMTSgene families
The 'A-disintegrin and metalloproteinase' (ADAM) and 'A-disintegrin and metalloproteinase with thrombospondin motifs' (ADAMTS) genes make up two similar, yet distinct, gene families. The human and mouse genomes c...
Citation: Human Genomics 2009 4:43 -
Use of pathway information in molecular epidemiology
Candidate gene studies are generally motivated by some form of pathway reasoning in the selection of genes to be studied, but seldom has the logic of the approach been carried through to the analysis. Marginal...
Citation: Human Genomics 2009 4:21 -
Genetic association tests: a method for the joint analysis of family and case-control data
With the trend in molecular epidemiology towards both genome-wide association studies and complex modelling, the need for large sample sizes to detect small effects and to allow for the estimation of many para...
Citation: Human Genomics 2009 4:2 -
Animal Models in Eye Research: Edited by Panagiotis A. Tsonis Academic Press, San Diego, CA, USA; 2008
Citation: Human Genomics 2009 3:381 -
Current software for genotype imputation
Genotype imputation for single nucleotide polymorphisms (SNPs) has been shown to be a powerful means to include genetic markers in exploratory genetic association studies without having to genotype them, and i...
Citation: Human Genomics 2009 3:371 -
Aldo-keto reductase (AKR) superfamily: Genomics and annotation
Aldo-keto reductases (AKRs) are phase I metabolising enzymes that catalyse the reduced nicotinamide adenine dinucleotide (phosphate) (NAD(P)H)-dependent reduction of carbonyl groups to yield primary and secondary...
Citation: Human Genomics 2009 3:362 -
Comparative transcriptome analyses of Pseudomonas aeruginosa
One of the hallmarks of bacterial survival is their ability to adapt rapidly to changing environmental conditions. Niche adaptation is a response to the signals received that are relayed, often to regulators t...
Citation: Human Genomics 2009 3:349 -
The tiny world of microRNAs in the cross hairs of the mammalian eye
Citation: Human Genomics 2009 3:332 -
Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses
The diversity of hosts, pathogens and host-pathogen relationships reflects the influence of selective pressures that fuel diversity through ongoing interactions with other rapidly evolving molecules in the env...
Citation: Human Genomics 2009 3:320 -
Recommendations for using standardised phenotypes in genetic association studies
Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of ...
Citation: Human Genomics 2009 3:308 -
Identification of a novel cytosolic aldehyde dehydrogenase allele, ALDHIAI*4
This paper reports the identification of a novel cytosolic aldehyde dehydrogenase 1 (ALDHIAI) allele. One hundred and sixty-two Indo-Trinidadian and 85 Afro-Trinidadian individuals were genotyped. A novel ALDHIAI
Citation: Human Genomics 2009 3:304 -
Collection of variation causing disease - The Human Variome Project
Citation: Human Genomics 2009 3:301 -
Given the complexity of the human genome, can 'personalised medicine' or 'individualised drug therapy' ever be achieved?
Citation: Human Genomics 2009 3:299 -
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 -
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 -
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
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