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  1. Content type: Primary research

    The study was designed to evaluate the association of GATA4 gene polymorphism with coronary artery disease (CAD) and its metabolic risk factors, including dyslipidaemic disorders, obesity, type 2 diabetes and hyp...

    Authors: Nzioka P Muiya, Salma M Wakil, Asma I Tahir, Samya Hagos, Mohammed Najai, Daisy Gueco, Nada Al-Tassan, Editha Andres, Nejat Mazher, Brian F Meyer and Nduna Dzimiri

    Citation: Human Genomics 2013 7:25

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  2. Content type: Primary research

    Inflammation is an essential immune response; however, chronic inflammation results in disease including Crohn's disease. Therefore, reducing the inflammation can yield a significant health benefit, and one wa...

    Authors: Gareth Marlow, Stephanie Ellett, Isobel R Ferguson, Shuotun Zhu, Nishi Karunasinghe, Amalini C Jesuthasan, Dug Yeo Han, Alan G Fraser and Lynnette R Ferguson

    Citation: Human Genomics 2013 7:24

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  3. Content type: Gene family update

    The serpin family comprises a structurally similar, yet functionally diverse, set of proteins. Named originally for their function as serine proteinase inhibitors, many of its members are not inhibitors but ra...

    Authors: Claire Heit, Brian C Jackson, Monica McAndrews, Mathew W Wright, David C Thompson, Gary A Silverman, Daniel W Nebert and Vasilis Vasiliou

    Citation: Human Genomics 2013 7:22

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  4. Content type: Primary research

    Osteoporosis has a multifactorial pathogenesis characterized by a combination of low bone mass and increased fragility. In our study, we focused on the effects of polymorphisms in CER1 and DKK1 genes, recently re...

    Authors: Theodora Koromila, Panagiotis Georgoulias, Zoe Dailiana, Evangelia E Ntzani, Stavroula Samara, Chris Chassanidis, Vassiliki Aleporou-Marinou and Panagoula Kollia

    Citation: Human Genomics 2013 7:21

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  5. Content type: Primary research

    The MECP2 gene codes for methyl CpG binding protein 2 which regulates activities of other genes in the early development of the brain. Mutations in this gene have been associated with Rett syndrome, a form of ...

    Authors: Joetsaroop S Bagga and Lawrence A D’Antonio

    Citation: Human Genomics 2013 7:19

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  6. Content type: Primary research

    Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the NF1 gene. NF1 affects approximately 1/3,000 individuals worldwide, with about 50% of cases representing de novo m...

    Authors: Stephen E Hamby, Pablo Reviriego, David N Cooper, Meena Upadhyaya and Nadia Chuzhanova

    Citation: Human Genomics 2013 7:18

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  7. Content type: Opinion article

    Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodo...

    Authors: George P Patrinos, Darrol J Baker, Fahd Al-Mulla, Vasilis Vasiliou and David N Cooper

    Citation: Human Genomics 2013 7:17

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  8. Content type: Primary research

    The standard approach to determine unique or shared genetic factors across populations is to identify risk alleles in one population and investigate replication in others. However, since populations differ in ...

    Authors: Lili Ding, Tilahun Abebe, Joseph Beyene, Russell A Wilke, Arnon Goldberg, Jessica G Woo, Lisa J Martin, Marc E Rothenberg, Marepalli Rao, Gurjit K Khurana Hershey, Ranajit Chakraborty and Tesfaye B Mersha

    Citation: Human Genomics 2013 7:16

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  9. Content type: Primary research

    The muscle Ras (MRAS) gene resides on chromosome 3q22.3 and encodes a member of the membrane-associated Ras small GTPase proteins, which function as signal transducers in multiple processes including cell growth ...

    Authors: Maie Alshahid, Salma M Wakil, Mohammed Al-Najai, Nzioka P Muiya, Samar Elhawari, Daisy Gueco, Editha Andres, Samia Hagos, Nejat Mazhar, Brian F Meyer and Nduna Dzimiri

    Citation: Human Genomics 2013 7:15

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  10. Content type: Primary research

    A large number of common disorders, including cancer, have complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. A literature search revealed that even amon...

    Authors: Zoi Lanara, Efstathia Giannopoulou, Marta Fullen, Evangelos Kostantinopoulos, Jean-Christophe Nebel, Haralabos P Kalofonos, George P Patrinos and Cristiana Pavlidis

    Citation: Human Genomics 2013 7:14

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  11. Content type: Gene family update

    The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The ...

    Authors: Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford and James S Friedman

    Citation: Human Genomics 2013 7:13

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  12. Content type: Letter to the Editor

    We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense...

    Authors: Robert C Grant, Wigdan Al-Sukhni, Ayelet E Borgida, Spring Holter, Zaheer S Kanji, Treasa McPherson, Emily Whelan, Stefano Serra, Quang M Trinh, Vanya Peltekova, Lincoln D Stein, John D McPherson and Steven Gallinger

    Citation: Human Genomics 2013 7:11

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  13. 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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  14. Content type: Primary research

    Hox genes encode transcription factors that regulate embryonic and post-embryonic developmental processes. The expression of Hox genes is regulated in part by the tight, spatial arrangement of conserved coding an...

    Authors: Stephen Randal Voss, Srikrishna Putta, John A Walker, Jeramiah J Smith, Nobuyasu Maki and Panagiotis A Tsonis

    Citation: Human Genomics 2013 7:9

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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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