Articles

Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism

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

Screening in silico predicted remotely acting NF1gene regulatory elements for mutations in patients with neurofibromatosis type 1

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

Genetic tests obtainable through pharmacies: the good, the bad, and the ugly

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

Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations

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

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3

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

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

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

Update on the Kelch-like (KLHL) gene family

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

Vive la différence: naming structural variants in the human reference genome

The HUGO Gene Nomenclature Committee has approved gene symbols for the majority of protein-coding genes on the human reference genome. To adequately represent regions of complex structural variation, the Genom...

Authors: Ruth L Seal, Mathew W Wright, Kristian A Gray and Elspeth A Bruford

Exome sequencing identifies nonsegregating nonsense ATM and PALB2variants in familial pancreatic cancer

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

Extrapolating the effect of deleterious nsSNPs in the binding adaptability of flavopiridol with CDK7 protein: a molecular dynamics approach

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

Salamander Hox clusters contain repetitive DNA and expanded non-coding regions: a typical Hoxstructure for non-mammalian tetrapod vertebrates?

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

Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models

Na⁺/K⁺-ATPase alpha 2 (Atp1a2) is an integral plasma membrane protein belonging to the P-type ATPase family that is responsible for maintaining the sodium (Na⁺) and potassium (K⁺) gradients across cellular membra...

Authors: Stephanie M Gritz and Richard A Radcliffe

Value that industrial collaborations bring to research and education efforts in universities: perspective of a professor working in the field of development of therapeutic proteins

Authors: John F Carpenter

Development of a cost-effective high-throughput process of microsatellite analysis involving miniaturized multiplexed PCR amplification and automated allele identification

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

How to create innovation by building the translation bridge from basic research into medicinal drugs: an industrial perspective

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

The updated RGD Pathway Portal utilizes increased curation efficiency and provides expanded pathway information

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

An essential reference for the drug safety practitioner

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Authors: Andrew A Monte

Gene selection and cancer type classification of diffuse large-B-cell lymphoma using a bivariate mixture model for two-species data

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

Softwares and methods for estimating genetic ancestry in human populations

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

A new era in the discovery of de novomutations underlying human genetic disease

Authors: Chee-Seng Ku, Vasilis Vasiliou and David N Cooper

The human crystallin gene families

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

16th Carbonyl Metabolism Meeting: from enzymology to genomics

The 16th International Meeting on the Enzymology and Molecular Biology of Carbonyl Metabolism, Castle of Ploen (Schleswig-Holstein, Germany), July 10–15, 2012, covered all aspects of NAD(P)-dependent oxido-red...

Authors: Edmund Maser

Association of genome variations in the renin-angiotensin system with physical performance

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

An emerging role for microRNAs in NF1 tumorigenesis

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

Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations

Pseudoexfoliation syndrome (PXS) is a systemic condition with eye manifestations. In the eye, pseudoexfoliation material deposits on various structures of the anterior segment. The nature of this material is m...

Authors: Eman Elhawy, Gautam Kamthan, Cecilia Q Dong and John Danias

Collaborative software for traditional and translational research

Biomedical research has entered a period of renewed vigor with the introduction and rapid development of genomic technologies and next-generation sequencing methods. This research paradigm produces extremely l...

Authors: Ari E Berman, William K Barnett and Sean D Mooney

Strong interaction between T allele of endothelial nitric oxide synthase with B1 allele of cholesteryl ester transfer protein TaqIB highly elevates the risk of coronary artery disease and type 2 diabetes mellitus

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

6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy

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

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

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

Usability survey of biomedical question answering systems

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

Review of “Molecules that Changed the World” by KC Nikolaou and T Montagnon

Authors: Panagiotis A Tsonis

Identification of functional DNA variants in the constitutive promoter region of MDM2

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

Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses

In this contribution, we have examined the patterns of gene expression in normal and cataractous lenses as presented in five different papers using microarrays and expressed sequence tags. The purpose was to e...

Authors: Konstantinos Sousounis and Panagiotis A Tsonis

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

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

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

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

‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care

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

Conservation of the three-dimensional structure in non-homologous or unrelated proteins

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

CXCL5 polymorphisms are associated with variable blood pressure in cardiovascular disease-free adults

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

Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCEgenes

Authors: Jian-Min Chen, David N Cooper and Claude Férec

GWIDD: a comprehensive resource for genome-wide structural modeling of protein-protein interactions

Protein-protein interactions are a key component of life processes. The knowledge of the three-dimensional structure of these interactions is important for understanding protein function. Genome-Wide Docking D...

Authors: Petras J Kundrotas, Zhengwei Zhu and Ilya A Vakser

The human protein disulfide isomerase gene family

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

SNPTrack^TM: an integrated bioinformatics system for genetic association studies

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

Gene family matters: expanding the HGNC resource

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

Mitochondrial and nuclear genomics and the emergence of personalized medicine

Developing early detection biosensors for disease has been the long‒held goal of the Human Genome Project, but with little success. Conversely, the biological properties of the mitochondrion coupled with the r...

Authors: Ryan L Parr and Luis H Martin

Estimating ancestral proportions in a multi-ethnic US sample: implications for studies of admixed populations

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

A new home for Human Genomics

Authors: Vasilis Vasiliou and Daniel W Nebert

Pathway annotation and analysis with Reactome: The solute carrier class of membrane transporters

Reactome is an expert-authored, peer-reviewed knowledge base of human reactions and pathways that functions as a data-mining resource and electronic textbook. Its current release covers approximately 23 per ce...

Authors: Bijay Jassal

Update of the human secretoglobin (SCGB) gene superfamily and an example of 'evolutionary bloom' of androgen-binding protein genes within the mouse Scgb gene superfamily

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

Research Highlights

Authors: Robert I. Scheinman

Visionary genomics

Authors: J. Mark Petrash, Philip A. Ruzycki and Gregory J. Zablocki