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  1. Molecular and epidemiological evidence demonstrate that altered gene expression and single nucleotide polymorphisms in the apoptotic pathway are linked to many cancers. Yet, few studies emphasize the interacti...

    Authors: Nicole A Lavender, Erica N Rogers, Susan Yeyeodu, James Rudd, Ting Hu, Jie Zhang, Guy N Brock, Kevin S Kimbro, Jason H Moore, David W Hein and La Creis R Kidd
    Citation: BMC Medical Genomics 2012 5:11
  2. Infant birth weight is a complex quantitative trait associated with both neonatal and long-term health outcomes. Numerous studies have been published in which candidate genes (IGF1, IGF2, IGF2R, IGF binding prote...

    Authors: Nahid Turan, Mohamed F Ghalwash, Sunita Katari, Christos Coutifaris, Zoran Obradovic and Carmen Sapienza
    Citation: BMC Medical Genomics 2012 5:10
  3. To get insight into molecular mechanisms underlying insulin resistance, we compared acute in vivo effects of insulin on adipose tissue transcriptional profiles between obese insulin-resistant and lean insulin-...

    Authors: Jarkko Soronen, Pirkka-Pekka Laurila, Jussi Naukkarinen, Ida Surakka, Samuli Ripatti, Matti Jauhiainen, Vesa M Olkkonen and Hannele Yki-Järvinen
    Citation: BMC Medical Genomics 2012 5:9
  4. Aberrant DNA methylation leads to loss of heterozygosity (LOH) or loss of imprinting (LOI) as the first hit during human carcinogenesis. Recently we developed a new high-throughput, high-resolution DNA methyla...

    Authors: Hitoshi Hiura, Hiroaki Okae, Hisato Kobayash, Naoko Miyauchi, Fumi Sato, Akiko Sato, Fumihiko Suzuki, Satoru Nagase, Junichi Sugawara, Kunihiko Nakai, Nobuo Yaegashi and Takahiro Arima
    Citation: BMC Medical Genomics 2012 5:8
  5. Next-generation DNA sequencing is opening new avenues for genetic association studies in common diseases that, like deep vein thrombosis (DVT), have a strong genetic predisposition still largely unexplained by...

    Authors: Luca A Lotta, Mark Wang, Jin Yu, Ida Martinelli, Fuli Yu, Serena M Passamonti, Dario Consonni, Emanuela Pappalardo, Marzia Menegatti, Steven E Scherer, Lora L Lewis, Humeira Akbar, Yuanqing Wu, Matthew N Bainbridge, Donna M Muzny, Pier M Mannucci…
    Citation: BMC Medical Genomics 2012 5:7
  6. Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of...

    Authors: Diane Raingeard de la Blétière, Odile Blanchet, Pascale Cornillet-Lefèbvre, Anne Coutolleau, Laurence Baranger, Franck Geneviève, Isabelle Luquet, Mathilde Hunault-Berger, Annaelle Beucher, Aline Schmidt-Tanguy, Marc Zandecki, Yves Delneste, Norbert Ifrah and Philippe Guardiola
    Citation: BMC Medical Genomics 2012 5:6
  7. Liver fibrosis is caused by chemicals or viral infection. The progression of liver fibrosis results in hepatocellular carcinogenesis in later stages. Recent studies have revealed the importance of DNA hypermet...

    Authors: Yoko Komatsu, Tsuyoshi Waku, Naoya Iwasaki, Wakana Ono, Chie Yamaguchi and Junn Yanagisawa
    Citation: BMC Medical Genomics 2012 5:5
  8. MicroRNAs (miRNAs) are small non-coding RNAs that participate in the spatiotemporal regulation of messenger RNA (mRNA) and protein synthesis. Recent studies have shown that some miRNAs are involved in the prog...

    Authors: Zhaohui Luo, Liyang Zhang, Zheng Li, Xiayu Li, Gang Li, Haibo Yu, Chen Jiang, Yafei Dai, Xiaofang Guo, Juanjuan Xiang and Guiyuan Li
    Citation: BMC Medical Genomics 2012 5:3
  9. Being able to visualize multivariate biological treatment effects can be insightful. However the axes in visualizations are often solely defined by variation and thus have no biological meaning. This makes the...

    Authors: Jildau Bouwman, Jack TWE Vogels, Suzan Wopereis, Carina M Rubingh, Sabina Bijlsma and Ben van Ommen
    Citation: BMC Medical Genomics 2012 5:1
  10. The progression towards type 2 diabetes depends on the allostatic response of pancreatic beta cells to synthesise and secrete enough insulin to compensate for insulin resistance. The endocrine pancreas is a pl...

    Authors: Yurena Vivas, Cristina Martínez-García, Adriana Izquierdo, Francisco Garcia-Garcia, Sergio Callejas, Ismael Velasco, Mark Campbell, Manuel Ros, Ana Dopazo, Joaquin Dopazo, Antonio Vidal-Puig and Gema Medina-Gomez
    Citation: BMC Medical Genomics 2011 4:86
  11. In a cancer cell the number of copies of a locus may vary due to amplification and deletion and these variations are denoted as copy number alterations (CNAs). We focus on the disparity of CNAs in tumour sampl...

    Authors: Fatemeh Kaveh, Hege Edvardsen, Anne-Lise Børresen-Dale, Vessela N Kristensen and Hiroko K Solvang
    Citation: BMC Medical Genomics 2011 4:85
  12. Genome-wide methylation profiling has led to more comprehensive insights into gene regulation mechanisms and potential therapeutic targets. Illumina Human Methylation BeadChip is one of the most commonly used ...

    Authors: Zhifu Sun, High Seng Chai, Yanhong Wu, Wendy M White, Krishna V Donkena, Christopher J Klein, Vesna D Garovic, Terry M Therneau and Jean-Pierre A Kocher
    Citation: BMC Medical Genomics 2011 4:84
  13. Prediction of left ventricular (LV) remodeling after acute myocardial infarction (MI) is clinically important and would benefit from the discovery of new biomarkers.

    Authors: Yvan Devaux, Melanie Bousquenaud, Sophie Rodius, Pierre-Yves Marie, Fatiha Maskali, Lu Zhang, Francisco Azuaje and Daniel R Wagner
    Citation: BMC Medical Genomics 2011 4:83
  14. Epigenetic alteration of gene expression is a common event in human cancer. DNA methylation is a well-known epigenetic process, but verifying the exact nature of epigenetic changes associated with cancer remai...

    Authors: Jung-Hoon Park, Jinah Park, Jung Kyoon Choi, Jaemyun Lyu, Min-Gyun Bae, Young-Gun Lee, Jae-Bum Bae, Dong Yoon Park, Han-Kwang Yang, Tae-You Kim and Young-Joon Kim
    Citation: BMC Medical Genomics 2011 4:82
  15. Until recently, genome-wide association studies (GWAS) have been restricted to research groups with the budget necessary to genotype hundreds, if not thousands, of samples. Replacing individual genotyping with...

    Authors: Madalene A Earp, Maziar Rahmani, Kevin Chew and Angela Brooks-Wilson
    Citation: BMC Medical Genomics 2011 4:81
  16. Bone morphogenetic proteins (BMPs) are members of the TGF-beta superfamily of growth factors. They are known for their roles in regulation of osteogenesis and developmental processes and, in recent years, evid...

    Authors: Alejandra Rodriguez-Martinez, Emma-Leena Alarmo, Lilli Saarinen, Johanna Ketolainen, Kari Nousiainen, Sampsa Hautaniemi and Anne Kallioniemi
    Citation: BMC Medical Genomics 2011 4:80
  17. Identification of patients who likely will or will not benefit from cytotoxic chemotherapy through the use of biomarkers could greatly improve clinical management by better defining appropriate treatment optio...

    Authors: Chang Hee Kim, Hark K Kim, R Luke Rettig, Joseph Kim, Eunbyul T Lee, Olga Aprelikova, Il J Choi, David J Munroe and Jeffrey E Green
    Citation: BMC Medical Genomics 2011 4:79
  18. MicroRNAs are ~22-nt long regulatory RNAs that serve as critical modulators of post-transcriptional gene regulation. The diversity of miRNAs in endothelial cells (ECs) and the relationship of this diversity to...

    Authors: Matthew N McCall, Oliver A Kent, Jianshi Yu, Karen Fox-Talbot, Ari L Zaiman and Marc K Halushka
    Citation: BMC Medical Genomics 2011 4:78
  19. Increased understanding of the variability in normal breast biology will enable us to identify mechanisms of breast cancer initiation and the origin of different subtypes, and to better predict breast cancer r...

    Authors: Vilde D Haakensen, Ole Christian Lingjærde, Torben Lüders, Margit Riis, Aleix Prat, Melissa A Troester, Marit M Holmen, Jan Ole Frantzen, Linda Romundstad, Dina Navjord, Ida K Bukholm, Tom B Johannesen, Charles M Perou, Giske Ursin, Vessela N Kristensen, Anne-Lise Børresen-Dale…
    Citation: BMC Medical Genomics 2011 4:77
  20. A wide variety of high-throughput microarray platforms have been used to identify molecular targets associated with biological and clinical tumor phenotypes by comparing samples representing distinct pathologi...

    Authors: Waleska K Martins, Gustavo H Esteves, Otávio M Almeida, Gisele G Rezze, Gilles Landman, Sarah M Marques, Alex F Carvalho, Luiz F L Reis, João P Duprat and Beatriz S Stolf
    Citation: BMC Medical Genomics 2011 4:76
  21. Gene fusions arising from chromosomal translocations have been implicated in cancer. However, the role of gene fusions in BRCA1-related breast cancers is not well understood. Mutations in BRCA1 are associated wit...

    Authors: Kevin CH Ha, Emilie Lalonde, Lili Li, Luca Cavallone, Rachael Natrajan, Maryou B Lambros, Costas Mitsopoulos, Jarle Hakas, Iwanka Kozarewa, Kerry Fenwick, Chris J Lord, Alan Ashworth, Anne Vincent-Salomon, Mark Basik, Jorge S Reis-Filho, Jacek Majewski…
    Citation: BMC Medical Genomics 2011 4:75
  22. Sporadic amyotrophic lateral sclerosis (sALS) is a motor neuron disease with poorly understood etiology. Results of gene expression profiling studies of whole blood from ALS patients have not been validated an...

    Authors: Jean-Luc C Mougeot, Zhen Li, Andrea E Price, Fred A Wright and Benjamin R Brooks
    Citation: BMC Medical Genomics 2011 4:74
  23. Insulin resistance (IR) is accompanied by chronic low grade systemic inflammation, obesity, and deregulation of total body energy homeostasis. We induced inflammation in adipose and liver tissues in vitro in orde...

    Authors: Ewa Szalowska, Martijn Dijkstra, Marieke GL Elferink, Desiree Weening, Marcel de Vries, Marcel Bruinenberg, Annemieke Hoek, Han Roelofsen, Geny MM Groothuis and Roel J Vonk
    Citation: BMC Medical Genomics 2011 4:71
  24. The accurate diagnosis of idiopathic pulmonary fibrosis (IPF) is a major clinical challenge. We developed a model to diagnose IPF by applying Bayesian probit regression (BPR) modelling to gene expression profi...

    Authors: Eric B Meltzer, William T Barry, Thomas A D'Amico, Robert D Davis, Shu S Lin, Mark W Onaitis, Lake D Morrison, Thomas A Sporn, Mark P Steele and Paul W Noble
    Citation: BMC Medical Genomics 2011 4:70
  25. The ability to share human biological samples, associated data and results across disease-specific and population-based human research biobanks is becoming increasingly important for research into disease deve...

    Authors: Isabelle Budin-Ljøsne, Anne Marie Tassé, Bartha Maria Knoppers and Jennifer R Harris
    Citation: BMC Medical Genomics 2011 4:69
  26. Massively parallel sequencing technologies have brought an enormous increase in sequencing throughput. However, these technologies need to be further improved with regard to reproducibility and applicability t...

    Authors: Martin Kerick, Melanie Isau, Bernd Timmermann, Holger Sültmann, Ralf Herwig, Sylvia Krobitsch, Georg Schaefer, Irmgard Verdorfer, Georg Bartsch, Helmut Klocker, Hans Lehrach and Michal R Schweiger
    Citation: BMC Medical Genomics 2011 4:68
  27. Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, that can encode a protein co...

    Authors: Koji Tsumagari, Shao-Chi Chang, Michelle Lacey, Carl Baribault, Sridar V Chittur, Janet Sowden, Rabi Tawil, Gregory E Crawford and Melanie Ehrlich
    Citation: BMC Medical Genomics 2011 4:67
  28. Conventional high-grade osteosarcoma is a primary malignant bone tumor, which is most prevalent in adolescence. Survival rates of osteosarcoma patients have not improved significantly in the last 25 years. Aim...

    Authors: Marieke L Kuijjer, Heidi M Namløs, Esther I Hauben, Isidro Machado, Stine H Kresse, Massimo Serra, Antonio Llombart-Bosch, Pancras CW Hogendoorn, Leonardo A Meza-Zepeda, Ola Myklebost and Anne-Marie Cleton-Jansen
    Citation: BMC Medical Genomics 2011 4:66
  29. Mesenchymal stem cell (MSC) found in bone marrow (BM-MSCs) and the Wharton's jelly matrix of human umbilical cord (WJ-MSCs) are able to transdifferentiate into neuronal lineage cells both in vitro and in vivo and...

    Authors: Shing-Jyh Chang, Shun-Long Weng, Jui-Yu Hsieh, Tao-Yeuan Wang, Margaret Dah-Tsyr Chang and Hsei-Wei Wang
    Citation: BMC Medical Genomics 2011 4:65
  30. It is widely accepted that atherosclerosis and inflammation are intimately linked. Monocytes play a key role in both of these processes and we hypothesized that activation of inflammatory pathways in monocytes...

    Authors: Suthesh Sivapalaratnam, Rosienne Farrugia, Max Nieuwdorp, Cordelia F Langford, Rachel T van Beem, Stephanie Maiwald, Jaap Jan Zwaginga, Arief Gusnanto, Nicholas A Watkins, Mieke D Trip and Willem H Ouwehand
    Citation: BMC Medical Genomics 2011 4:64
  31. Glioblastoma multiforme (GBM) tends to occur between the ages of 45 and 70. This relatively early onset and its poor prognosis make the impact of GBM on public health far greater than would be suggested by its...

    Authors: Tun-Hsiang Yang, Mark Kon, Jui-Hung Hung and Charles DeLisi
    Citation: BMC Medical Genomics 2011 4:63
  32. Incidence of hepatitis C virus (HCV) induced hepatocellular carcinoma (HCC) has been increasing in the United States and Europe during recent years. Although HCV-associated HCC shares many pathological charact...

    Authors: Siyuan Zheng, William P Tansey, Scott W Hiebert and Zhongming Zhao
    Citation: BMC Medical Genomics 2011 4:62
  33. Transgenic mouse tumor models have the advantage of facilitating controlled in vivo oncogenic perturbations in a common genetic background. This provides an idealized context for generating transcriptome-based di...

    Authors: Heather G LaBreche, Joseph R Nevins and Erich Huang
    Citation: BMC Medical Genomics 2011 4:61
  34. Hepatocellular carcinoma (HCC) is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital ka...

    Authors: Hui Dong, Hongyi Zhang, Jianping Liang, Huadong Yan, Yangyi Chen, Yan Shen, Yalin Kong, Shengyue Wang, Guoping Zhao and Weirong Jin
    Citation: BMC Medical Genomics 2011 4:60
  35. Inflammation plays an important role in cardiac repair after myocardial infarction (MI). Nevertheless, the systems-level characterization of inflammation proteins in MI remains incomplete. There is a need to d...

    Authors: Francisco J Azuaje, Sophie Rodius, Lu Zhang, Yvan Devaux and Daniel R Wagner
    Citation: BMC Medical Genomics 2011 4:59
  36. Gene expression signatures developed to measure the activity of oncogenic signaling pathways have been used to dissect the heterogeneity of tumor samples and to predict sensitivity to various cancer drugs that...

    Authors: Jennifer A Freedman, Christina K Augustine, Angelica M Selim, Kirsten C Holshausen, Zhengzheng Wei, Katherine A Tsamis, David S Hsu, Holly K Dressman, William T Barry, Douglas S Tyler and Joseph R Nevins
    Citation: BMC Medical Genomics 2011 4:58
  37. Pilocytic Astrocytomas (PAs) are common low-grade central nervous system malignancies for which few recurrent and specific genetic alterations have been identified. In an effort to better understand the molecu...

    Authors: Hrishikesh Deshmukh, Jinsheng Yu, Jahangheer Shaik, Tobey J MacDonald, Arie Perry, Jacqueline E Payton, David H Gutmann, Mark A Watson and Rakesh Nagarajan
    Citation: BMC Medical Genomics 2011 4:57
  38. Metastasis is the number one cause of cancer deaths. Expression microarrays have been widely used to study metastasis in various types of cancer. We hypothesize that a meta-analysis of publicly available gene ...

    Authors: Marla H Daves, Susan G Hilsenbeck, Ching C Lau and Tsz-Kwong Man
    Citation: BMC Medical Genomics 2011 4:56
  39. A molecular characterization of Alzheimer's Disease (AD) is the key to the identification of altered gene sets that lead to AD progression. We rely on the assumption that candidate marker genes for a given dis...

    Authors: Margherita Squillario and Annalisa Barla
    Citation: BMC Medical Genomics 2011 4:55
  40. Genomic tests are available to predict breast cancer recurrence and to guide clinical decision making. These predictors provide recurrence risk scores along with a measure of uncertainty, usually a confidence ...

    Authors: Fathi Elloumi, Zhiyuan Hu, Yan Li, Joel S Parker, Margaret L Gulley, Keith D Amos and Melissa A Troester
    Citation: BMC Medical Genomics 2011 4:54
  41. Cancer cells are characterized by massive dysegulation of physiological cell functions with considerable disruption of transcriptional regulation. Genome-wide transcriptome profiling can be utilized for early ...

    Authors: Markus Krupp, Thorsten Maass, Jens U Marquardt, Frank Staib, Tobias Bauer, Rainer König, Stefan Biesterfeld, Peter R Galle, Achim Tresch and Andreas Teufel
    Citation: BMC Medical Genomics 2011 4:53
  42. Recent genome-wide association (GWA) analyses have identified common single nucleotide polymorphisms (SNPs) that are associated with obesity. However, the reported genetic variation in obesity explains only a ...

    Authors: Hong Jiao, Peter Arner, Johan Hoffstedt, David Brodin, Beatrice Dubern, Sébastien Czernichow, Ferdinand van't Hooft, Tomas Axelsson, Oluf Pedersen, Torben Hansen, Thorkild IA Sørensen, Johannes Hebebrand, Juha Kere, Karin Dahlman-Wright, Anders Hamsten, Karine Clement…
    Citation: BMC Medical Genomics 2011 4:51
  43. We performed a genome-wide scan of 27,578 CpG loci covering 14,475 genes to identify differentially methylated loci (DML) in colorectal carcinoma (CRC).

    Authors: Muhammad G Kibriya, Maruf Raza, Farzana Jasmine, Shantanu Roy, Rachelle Paul-Brutus, Ronald Rahaman, Charlotte Dodsworth, Muhammad Rakibuz-Zaman, Mohammed Kamal and Habibul Ahsan
    Citation: BMC Medical Genomics 2011 4:50
  44. Glioblastoma is a complex multifactorial disorder that has swift and devastating consequences. Few genes have been consistently identified as prognostic biomarkers of glioblastoma survival. The goal of this st...

    Authors: Nicola VL Serão, Kristin R Delfino, Bruce R Southey, Jonathan E Beever and Sandra L Rodriguez-Zas
    Citation: BMC Medical Genomics 2011 4:49
  45. Gastric cancer samples obtained by histologic macrodissection contain a relatively high stromal content that may significantly influence gene expression profiles. Differences between the gene expression signat...

    Authors: Hark Kyun Kim, Joseph Kim, Susie Korolevich, Il Ju Choi, Chang Hee Kim, David J Munroe and Jeffrey E Green
    Citation: BMC Medical Genomics 2011 4:48

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