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  1. 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 cel...

    Authors: Brian Jackson, Chad Brocker, David C Thompson, William Black, Konstandinos Vasiliou, Daniel W Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2011 5:283

    Content type: Genome update

    Published on:

  2. Our knowledge of pharmacogenetic variability in diverse populations is scarce, especially in sub-Saharan Africa. To bridge this gap in knowledge, we characterised population frequencies of clinically relevant ...

    Authors: Ogechi Ikediobi, Bradley Aouizerat, Yuanyuan Xiao, Monica Gandhi, Stefan Gebhardt and Louise Warnich

    Citation: Human Genomics 2011 5:265

    Content type: Primary research

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  3. 'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untran...

    Authors: Stephen E Hamby, Nick ST Thomas, David N Cooper and Nadia Chuzhanova

    Citation: Human Genomics 2011 5:241

    Content type: Primary research

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  4. Recent advances in high-throughput sequencing have facilitated the genome-wide studies of small non-coding RNAs (sRNAs). Numerous studies have highlighted the role of various classes of sRNAs at different leve...

    Authors: Eneritz Agirre and Eduardo Eyras

    Citation: Human Genomics 2011 5:192

    Content type: Software review

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  5. DNA mutation data currently reside in many online databases, which differ markedly in the terminology used to describe or define the mutation and also in completeness of content, potentially making it difficul...

    Authors: Elizabeth A Webb, Timothy D Smith and Richard GH Cotton

    Citation: Human Genomics 2011 5:141

    Content type: Primary research

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  6. The Rat Genome Database (RGD) (http://​rgd.​mcw.​edu) provides a comprehensive platform for comparative genomics and genetics research. RGD houses gene, QTL and...

    Authors: Mary Shimoyama, Jennifer R. Smith, Tom Hayman, Stan Laulederkind, Tim Lowry, Rajni Nigam, Victoria Petri, Shur-Jen Wang, Melinda Dwinell and Howard Jacob

    Citation: Human Genomics 2011 5:124

    Content type: Genome databases

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  7. Chromatin immunoprecipitation followed by massively parallel next-generation sequencing (ChIP-seq) is a valuable experimental strategy for assaying protein-DNA interaction over the whole genome. Many computati...

    Authors: Hyunmin Kim, Jihye Kim, Heather Selby, Dexiang Gao, Tiejun Tong, Tzu Lip Phang and Aik Choon Tan

    Citation: Human Genomics 2011 5:117

    Content type: Software review

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  8. Type 2 diabetes represents an increasing health burden. Its prevalence is rising among younger age groups and differs among racial/ethnic groups. Little is known about its genetic basis, including whether ther...

    Authors: Yann C. Klimentidis, Jasmin Divers, Krista Casazza, T. Mark Beasley, David B. Allison and Jose R. Fernandez

    Citation: Human Genomics 2011 5:79

    Content type: Primary research

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  9. High-throughput RNA sequencing is rapidly emerging as a favourite method for gene expression studies. We review three software packages -- edgeR, DEGseq and baySeq -- from Bioconductor

    Authors: Dexiang Gao, Jihye Kim, Hyunmin Kim, Tzu L Phang, Heather Selby, Aik Choon Tan and Tiejun Tong

    Citation: Human Genomics 2010 5:56

    Content type: Software review

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  10. Cytokines play a very important role in nearly all aspects of inflammation and immunity. The term 'interleukin' (IL) has been used to describe a group of cytokines with complex immunomodulatory functions -- in...

    Authors: Chad Brocker, David Thompson, Akiko Matsumoto, Daniel W Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2010 5:30

    Content type: Genome update

    Published on:

  11. Breast cancer tumours among African Americans are usually more aggressive than those found in Caucasian populations. African-American patients with breast cancer also have higher mortality rates than Caucasian...

    Authors: Herbert Pang, Keita Ebisu, Emi Watanabe, Laura Y Sue and Tiejun Tong

    Citation: Human Genomics 2010 5:5

    Content type: Primary research

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  12. Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases. Homozygosity mapping of patient geno...

    Authors: El-Ad David Amir, Ofer Bartal, Efrat Morad, Tal Nagar, Jony Sheynin, Ruti Parvari and Vered Chalifa-Caspi

    Citation: Human Genomics 2010 4:394

    Content type: Primary research

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  13. Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy n...

    Authors: Anis Karimpour-Fard, Laura Dumas, Tzulip Phang, James M Sikela and Lawrence E Hunter

    Citation: Human Genomics 2010 4:421

    Content type: Software review

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  14. The acyl-CoA thioesterase gene (ACOT) family encodes enzymes that catalyse the hydrolysis of acyl-CoA thioester compounds, also known as activated fatty acids, to their corresponding non-esterified (free) fatty a...

    Authors: Chad Brocker, Christopher Carpenter, Daniel W Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2010 4:411

    Content type: Genome update

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  15. The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation ...

    Authors: David N Cooper, Matthew Mort, Peter D Stenson, Edward V Ball and Nadia A Chuzhanova

    Citation: Human Genomics 2010 4:406

    Content type: Review

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  16. The cytochrome P450 enzymes active in drug metabolism are highly polymorphic. Most allelic variants have been described for enzymes encoded by the cytochrome P450 family 2 (CYP2) gene family, which has 252 dif...

    Authors: Magnus Ingelman-Sundberg and Sarah C Sim

    Citation: Human Genomics 2010 4:402

    Content type: Review

    Published on:

  17. A 130 base pair (bp) insertion (g.-8delCins130) into the 5' untranslated region of the PAFAH1B1 (LIS1) gene, seven nucleotides upstream of the translational initiation site, was detected in an isolated case of li...

    Authors: David S Millar, Carolyn Tysoe, Lazarus P Lazarou, Daniela T Pilz, Shehla Mohammed, Katharine Anderson, Nadia Chuzhanova, David N Cooper and Rachel Butler

    Citation: Human Genomics 2010 4:384

    Content type: Primary research

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  18. Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene (-786T >C and 894G >T) enhance endo-thelial dysfunction and have been studied in relation to coronary artery disease (CAD). In the present study,...

    Authors: Georgia Ragia, Eleftherios Nikolaidis, Anna Tavridou, Kostas I Arvanitidis, Stavroula Kanoni, George V Dedoussis, George Bougioukas and Vangelis G Manolopoulos

    Citation: Human Genomics 2010 4:375

    Content type: Primary research

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  19. National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources fac...

    Authors: Sjozef van Baal, Joël Zlotogora, George Lagoumintzis, Vassiliki Gkantouna, Ioannis Tzimas, Konstantinos Poulas, Athanassios Tsakalidis, Giovanni Romeo and George P Patrinos

    Citation: Human Genomics 2010 4:361

    Content type: Genome databases

    Published on:

  20. The forkhead box (FOX) proteins are transcription factors that play complex and important roles in processes from development and organogenesis to regulation of metabolism and the immune system. There are 50 FOX ...

    Authors: Brian C. Jackson, Christopher Carpenter, Daniel W. Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2010 4:345

    Content type: Genome update

    Published on:

  21. 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 e...

    Authors: Rital B. Bhavsar, Leah N. Makley and Panagiotis A. Tsonis

    Citation: Human Genomics 2010 4:327

    Content type: Review

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  22. Longitudinal studies are an important tool for analysing traits that change over time, depending on individual characteristics and environmental exposures. Complex quantitative traits, such as lung function, m...

    Authors: Hortensia Moreno-Macias, Isabelle Romieu, Stephanie J London and Nan M Laird

    Citation: Human Genomics 2010 4:302

    Content type: Primary research

    Published on:

  23. The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone I (GHI) gene, has been associated with reduced levels of circulating GH and insuli...

    Authors: David S. Millar, Martin Horan, Nadia A. Chuzhanova and David N. Cooper

    Citation: Human Genomics 2010 4:289

    Content type: Primary research

    Published on:

  24. Pharmacogenetics affects both pharmacokinetics and pharmacodynamics, thereby influencing an individual's response to drugs, both in terms of response and adverse reactions. Within the area of pharmacogenetics,...

    Authors: Sarah C Sim and Magnus Ingelman-Sundberg

    Citation: Human Genomics 2010 4:278

    Content type: Genome databases

    Published on:

  25. Krüppel-like factors (KLFs), members of the zinc-finger family of transcription factors capable of binding GC-rich sequences, have emerged as critical regulators of important functions all over the body. They ...

    Authors: Shivalingappa K Swamynathan

    Citation: Human Genomics 2010 4:263

    Content type: Genome update

    Published on:

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