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  1. The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin de...

    Authors: Gunda Millonig, Martina U Muckenthaler and Sebastian Mueller

    Citation: Human Genomics 2010 4:250

    Content type: Review

    Published on:

  2. The CATH database provides hierarchical classification of protein domains based on their folding patterns. Domains are obtained from protein structures deposited in the Protein Data Bank and both domain identi...

    Authors: Michael Knudsen and Carsten Wiuf

    Citation: Human Genomics 2010 4:207

    Content type: Genome databases

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  3. 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 rel...

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

    Citation: Human Genomics 2010 4:194

    Content type: Genome update

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  4. After advanced age, having a parent affected with Alzheimer's disease (AD) is the most significant risk factor for developing AD among cognitively normal (NL) individuals. Although rare genetic mutations have ...

    Authors: Lisa Mosconi, Valentina Berti, Russell H Swerdlow, Alberto Pupi, Ranjan Duara and Mony de Leon

    Citation: Human Genomics 2010 4:170

    Content type: Review

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  5. Chronic bronchopulmonary bacterial infections remain the most common cause of morbidity and mortality among patients with cystic fibrosis (CF). Recent community sequencing work has now shown that the bacterial...

    Authors: Melissa S Doud, Michael Light, Gisela Gonzalez, Giri Narasimhan and Kalai Mathee

    Citation: Human Genomics 2010 4:147

    Content type: Primary research

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  6. Aldehyde oxidases (EC 1.2.3.1) are a small group of structurally conserved cytosolic proteins represented in both the animal and plant kingdoms. In vertebrates, aldehyde oxidases constitute the small sub-famil...

    Authors: Enrico Garattini, Maddalena Fratelli and Mineko Terao

    Citation: Human Genomics 2009 4:119

    Content type: Genome update

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  7. This review provides an update on the current state of pharmacogenetic research in the treatment of Alzheimer's disease (AD) and Lewy body disease (LBD) as it pertains to the use of cholinesterase inhibitors (...

    Authors: Benjamin Lam, Elizabeth Hollingdrake, James L Kennedy, Sandra E. Black and Mario Masellis

    Citation: Human Genomics 2009 4:91

    Content type: Review

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  8. High-altitude environments (>2,500 m) provide scientists with a natural laboratory to study the physiological and genetic effects of low ambient oxygen tension on human populations. One approach to understandi...

    Authors: Abigail W. Bigham, Xianyun Mao, Rui Mei, Tom Brutsaert, Megan J. Wilson, Colleen Glyde Julian, Esteban J. Parra, Joshua M. Akey, Lorna G. Moore and Mark D. Shriver

    Citation: Human Genomics 2009 4:79

    Content type: Primary research

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  9. Searching for genes contributing to longevity is a typical task in association analysis. A number of methods can be used for finding this association -- from the simplest method based on the technique of conti...

    Authors: Alexander Begun

    Citation: Human Genomics 2009 4:73

    Content type: Primary research

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  10. 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...

    Authors: David R. Nelson

    Citation: Human Genomics 2009 4:59

    Content type: Genome databases

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  11. 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.

    Authors: Michael E Weale

    Citation: Human Genomics 2009 4:56

    Content type: Software review

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  12. 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...

    Authors: Duncan C. Thomas, David V. Conti, James Baurley, Frederik Nijhout, Michael Reed and Cornelia M. Ulrich

    Citation: Human Genomics 2009 4:21

    Content type: Review

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  13. 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...

    Authors: Courtney Gray-McGuire, Murielle Bochud, Robert Goodloe and Robert C. Elston

    Citation: Human Genomics 2009 4:2

    Content type: Primary research

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  14. 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...

    Authors: David Ellinghaus, Stefan Schreiber, Andre Franke and Michael Nothnagel

    Citation: Human Genomics 2009 3:371

    Content type: Software review

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  15. 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...

    Authors: Rebekka D. Mindnich and Trevor M. Penning

    Citation: Human Genomics 2009 3:362

    Content type: Genome review

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  16. 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...

    Authors: Deepak Balasubramanian and Kalai Mathee

    Citation: Human Genomics 2009 3:349

    Content type: Review

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  17. 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...

    Authors: Meena K. Sakharkar, Kishore R. Sakharkar and Vincent T.K. Chow

    Citation: Human Genomics 2009 3:320

    Content type: Review

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  18. 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

    Authors: Shelley M. Moore, Tiebing Liang, Tamara J. Graves, Kevin M. McCall, Lucinda G. Carr and Cindy L. Ehlers

    Citation: Human Genomics 2009 3:304

    Content type: Primary research

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  19. 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...

    Authors: Vasilis Vasiliou, Konstandinos Vasiliou and Daniel W. Nebert

    Citation: Human Genomics 2009 3:281

    Content type: Genome review

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  20. 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...

    Authors: Antonio Drago, Diana De Ronchi and Alessandro Serretti

    Citation: Human Genomics 2009 3:257

    Content type: Review

    Published on:

  21. 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 ...

    Authors: Melissa Doud, Erliang Zeng, Lisa Schneper, Giri Narasimhan and Kalai Mathee

    Citation: Human Genomics 2009 3:246

    Content type: Research

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  22. 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...

    Authors: Tianyuan Wang, Terrence S Furey, Jessica J Connelly, Shihao Ji, Sarah Nelson, Steffen Heber, Simon G Gregory and Elizabeth R Hauser

    Citation: Human Genomics 2009 3:221

    Content type: Research

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