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  1. Content type: Primary research

    Recent reports suggest the role of nonsynonymous single nucleotide polymorphisms (nsSNPs) in cyclin-dependent kinase 7 (CDK7) gene associated with defect in the DNA repair mechanism that may contribute to cancer ...

    Authors: C George Priya Doss, N Nagasundaram, Chiranjib Chakraborty, Luonan Chen and Hailong Zhu

    Citation: Human Genomics 2013 7:10

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  2. Content type: Primary research

    Microsatellites are nucleotide sequences of tandem repeats occurring throughout the genome, which have been widely used in genetic linkage analysis, studies of loss of heterozygosity, determination of lineage ...

    Authors: Truc TM Nguyen, Shaheen E Lakhan and Barry A Finette

    Citation: Human Genomics 2013 7:6

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  3. Content type: Opinion article

    The global healthcare industry is undergoing substantial changes and adaptations to the constant decline of approved new medical entities. This decrease in internal research productivity is resulting in a majo...

    Authors: Paul G Germann, Alexander Schuhmacher, Juan Harrison, Ronald Law, Kevin Haug and Gordon Wong

    Citation: Human Genomics 2013 7:5

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  4. Content type: Genome database

    The RGD Pathway Portal provides pathway annotations for rat, human and mouse genes and pathway diagrams and suites, all interconnected via the pathway ontology. Diagram pages present the diagram and descriptio...

    Authors: G Thomas Hayman, Pushkala Jayaraman, Victoria Petri, Marek Tutaj, Weisong Liu, Jeff De Pons, Melinda R Dwinell and Mary Shimoyama

    Citation: Human Genomics 2013 7:4

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  5. Content type: Primary research

    A bivariate mixture model utilizing information across two species was proposed to solve the fundamental problem of identifying differentially expressed genes in microarray experiments. The model utility was i...

    Authors: Yuhua Su, Dahlia Nielsen, Lei Zhu, Kristy Richards, Steven Suter, Matthew Breen, Alison Motsinger-Reif and Jason Osborne

    Citation: Human Genomics 2013 7:2

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  6. Content type: Software review

    The estimation of genetic ancestry in human populations has important applications in medical genetic studies. Genetic ancestry is used to control for population stratification in genetic association studies, ...

    Authors: Yushi Liu, Toru Nyunoya, Shuguang Leng, Steven A Belinsky, Yohannes Tesfaigzi and Shannon Bruse

    Citation: Human Genomics 2013 7:1

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  7. Content type: Gene family update

    Crystallins are the abundant, long-lived proteins of the eye lens. The major human crystallins belong to two different superfamilies: the small heat-shock proteins (α-crystallins) and the βγ-crystallins. Durin...

    Authors: Graeme Wistow

    Citation: Human Genomics 2012 6:26

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  8. Content type: Primary research

    The aim of this study was to determine the genotype distribution and allelic frequencies of ACE (I/D), AGTR1 (A +1166 C), BDKRB2 (+9/−9) and LEP (G–2548A) genomic variations in 175 Greek athletes who excelled at ...

    Authors: Argyro Sgourou, Vassilis Fotopoulos, Vassilis Kontos, George P Patrinos and Adamantia Papachatzopoulou

    Citation: Human Genomics 2012 6:24

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  9. Content type: Review

    MicroRNAs (miRNAs) are a class of non-coding RNA, which have recently been shown to have a wide variety of regulatory functions in relation to gene expression. Since their identification nearly 20 years ago, m...

    Authors: Ashni Sedani, David N Cooper and Meena Upadhyaya

    Citation: Human Genomics 2012 6:23

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  10. Content type: Meeting report

    The Golden Helix Pharmacogenomics Days are international scientific meetings aiming to educate healthcare professionals and biomedical scientists about pharmacogenomics and personalized medicine. In this meeti...

    Authors: Maja Stojiljkovic, Amira Fazlagic, Lidija Dokmanovic-Krivokapic, Gordana Nikcevic, George P Patrinos, Sonja Pavlovic and Branka Zukic

    Citation: Human Genomics 2012 6:19

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  11. Content type: Primary research

    The present study was conducted to investigate the possible outcome of interaction between endothelial nitric oxide (NOS3) G894T and cholesteryl ester transfer TaqIB variants on the risk of coronary artery dis...

    Authors: Zohreh Rahimi, Reza Nourozi-Rad, Ziba Rahimi and Abbas Parsian

    Citation: Human Genomics 2012 6:20

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  12. Content type: Primary research

    Neurofibromatosis type-1 (NF1), resulting from NF1 gene loss of function, is characterized by an increased risk of developing benign and malignant peripheral nerve sheath tumors (MPNSTs). Whereas the cellular het...

    Authors: Laura Thomas, Victor-Felix Mautner, David N Cooper and Meena Upadhyaya

    Citation: Human Genomics 2012 6:18

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  13. Content type: Primary research

    Although mutations in the oncoprotein murine double minute 2 (MDM2) are rare, MDM2 gene overexpression has been observed in several human tumors. Given that even modest changes in MDM2 levels might influence the ...

    Authors: Marie-Eve Lalonde, Manon Ouimet, Mathieu Larivière, Ekaterini A Kritikou and Daniel Sinnett

    Citation: Human Genomics 2012 6:15

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  14. Content type: Genome database

    We live in an age of access to more information than ever before. This can be a double-edged sword. Increased access to information allows for more informed and empowered researchers, while information overloa...

    Authors: Michael A Bauer and Daniel Berleant

    Citation: Human Genomics 2012 6:17

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  15. Content type: Review

    Age-related macular degeneration (AMD) is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has...

    Authors: Melissa M Liu, Chi-Chao Chan and Jingsheng Tuo

    Citation: Human Genomics 2012 6:13

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  16. Content type: Primary research

    Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical var...

    Authors: Adila Alkindy, Nadia Chuzhanova, Usha Kini, David N Cooper and Meena Upadhyaya

    Citation: Human Genomics 2012 6:12

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  17. Content type: Meeting report

    This report is of a round-table discussion held in Cardiff in September 2009 for Cesagen, a research centre within the Genomics Network of the UK’s Economic and Social Research Council. The meeting was arrange...

    Authors: Angus J Clarke, David N Cooper, Michael Krawczak, Chris Tyler-Smith, Helen M Wallace, Andrew O M Wilkie, Frances Lucy Raymond, Ruth Chadwick, Nick Craddock, Ros John, John Gallacher and Mathias Chiano

    Citation: Human Genomics 2012 6:11

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  18. Content type: Review

    In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-h...

    Authors: Konstantinos Sousounis, Carl E Haney, Jin Cao, Bharath Sunchu and Panagiotis A Tsonis

    Citation: Human Genomics 2012 6:10

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  19. Content type: Primary research

    Leukocyte count has been associated with blood pressure, hypertension, and hypertensive complications. We hypothesized that polymorphisms in the CXCL5 gene, which encodes the neutrophilic chemokine ENA-78, are as...

    Authors: Amber L. Beitelshees, Christina L. Aquilante, Hooman Allayee, Taimour Y. Langaee, Gregory J. Welder, Richard S. Schofield and Issam Zineh

    Citation: Human Genomics 2012 6:9

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  20. Content type: Gene family update

    Enzyme-mediated disulfide bond formation is a highly conserved process affecting over one-third of all eukaryotic proteins. The enzymes primarily responsible for facilitating thiol-disulfide exchange are membe...

    Authors: James J Galligan and Dennis R Petersen

    Citation: Human Genomics 2012 6:6

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  21. Content type: Primary research

    This study was designed to determine the ancestral composition of a multi-ethnic sample collected for studies of drug addictions in New York City and Las Vegas, and to examine the reliability of self-identifie...

    Authors: Orna Levran, Olaoluwakitan Awolesi, Pei-Hong Shen, Miriam Adelson and Mary Jeanne Kreek

    Citation: Human Genomics 2012 6:2

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  22. Content type: Review

    The HUGO Gene Nomenclature Committee (HGNC) assigns approved gene symbols to human loci. There are currently over 33,000 approved gene symbols, the majority of which represent protein-coding genes, but we also...

    Authors: Louise C. Daugherty, Ruth L. Seal, Mathew W. Wright and Elspeth A. Bruford

    Citation: Human Genomics 2012 6:4

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  23. Content type: Genome database

    A genetic association study is a complicated process that involves collecting phenotypic data, generating genotypic data, analyzing associations between genotypic and phenotypic data, and interpreting genetic ...

    Authors: Joshua Xu, Reagan Kelly, Guangxu Zhou, Steven A. Turner, Don Ding, Stephen C. Harris, Huixiao Hong, Hong Fang and Weida Tong

    Citation: Human Genomics 2012 6:5

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  24. Content type: Genome update

    The secretoglobins (SCGBs) comprise a family of small, secreted proteins found in animals exclusively of mammalian lineage. There are 11 human SCGB genes and five pseudogenes. Interestingly, mice have 68 Scgb gen...

    Authors: Brian C Jackson, David C. Thompson, Mathew W. Wright, Monica McAndrews, Alfred Bernard, Daniel W. Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2011 5:691

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  25. Content type: Primary research

    Vitamin D has been shown to have anti-angiogenic properties and to play a protective role in several types of cancer, including breast, prostate and cutaneous melanoma. Similarly, vitamin D levels have been sh...

    Authors: Margaux A. Morrison, Alexandra C. Silveira, Nancy Huynh, Gyungah Jun, Silvia E. Smith, Fani Zacharaki, Hajime Sato, Stephanie Loomis, Michael T. Andreoli, Scott M. Adams, Monte J. Radeke, Austin S. Jelcick, Yang Yuan, Aristoteles N. Tsiloulis, Dimitrios Z Chatzoulis, Giuliana Silvestri…

    Citation: Human Genomics 2011 5:538

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  26. Content type: Review

    Somatic gene mutations constitute key events in the malignant transformation of human cells. Somatic mutation can either actively speed up the growth of tumour cells or relax the growth constraints normally im...

    Authors: Sebastian Laycock-van Spyk, Nick Thomas, David N. Cooper and Meena Upadhyaya

    Citation: Human Genomics 2011 5:623

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  27. Content type: Review

    Substantial progress has been made in human genetics and genomics research over the past ten years since the publication of the draft sequence of the human genome in 2001. Findings emanating directly from the ...

    Authors: Nasheen Naidoo, Yudi Pawitan, Richie Soong, David N. Cooper and Chee-Seng Ku

    Citation: Human Genomics 2011 5:577

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  28. Content type: Primary research

    The genes encoding the enzymes for metabolising alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) -- exhibit genetic polymorphism and ethnic variations. Although the ALDH2*2 variant allele has...

    Authors: Chung-Tay Yao, Chun-An Cheng, Hsu-Kun Wang, Shao-Wen Chiu, Yi-Chyan Chen, Ming-Fang Wang, Shih-Jiun Yin and Giia-Sheun Peng

    Citation: Human Genomics 2011 5:569

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  29. Content type: Genome databases

    Since 1998, the bioinformatics, systems biology, genomics and medical communities have enjoyed a synergistic relationship with the GeneCards database of human genes (

    Authors: Gil Stelzer, Irina Dalah, Tsippi Iny Stein, Yigeal Satanower, Naomi Rosen, Noam Nativ, Danit Oz-Levi, Tsviya Olender, Frida Belinky, Iris Bahir, Hagit Krug, Paul Perco, Bernd Mayer, Eugene Kolker, Marilyn Safran and Doron Lancet

    Citation: Human Genomics 2011 5:709

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  30. Content type: Primary research

    Cytochrome P450 2E1 (CYP2E1) is a key enzyme involved in the metabolic activation of procarcinogens such as N-nitrosoamines and low-molecular-weight organic compounds. The main aim of this study was to determi...

    Authors: A. Syed Sameer, Saniya Nissar, Qurteeba Qadri, Shafia Alam, Shahid Mudasir Baba and Mushtaq A. Siddiqi

    Citation: Human Genomics 2011 5:530

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  31. Content type: Software review

    Many primary biological databases are dedicated to providing annotation for a specific type of biological molecule such as a clone, transcript, gene or protein, but often with limited cross-references. Therefo...

    Authors: Shweta S. Chavan, John D. Shaughnessy Jr and Ricky D. Edmondson

    Citation: Human Genomics 2011 5:703

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  32. Content type: Genome databases

    e-PKGene (http://​www.​pharmacogenetics​info.​org) is a manually curated knowledge product developed in the Department of Pharmaceutics at the University of Wash...

    Authors: Houda Hachad, Casey Lynnette Overby, Sophie Argon, Catherine K Yeung, Isabelle Ragueneau-Majlessi and René H Levy

    Citation: Human Genomics 2011 5:506

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  33. Content type: Software review

    Progress in functional genomics and structural studies on biological macromolecules are generating a growing number of potential targets for therapeutics, adding to the importance of computational approaches f...

    Authors: Jacek Biesiada, Aleksey Porollo, Prakash Velayutham, Michal Kouril and Jaroslaw Meller

    Citation: Human Genomics 2011 5:497

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