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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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

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