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  1. MicroRNA is a naturally occurring class of non-coding RNA molecules that mediate posttranscriptional gene regulation and are strongly implicated in cellular processes such as cell proliferation, carcinogenesis...

    Authors: Iver Nordentoft, Karin Birkenkamp-Demtroder, Mads Agerbæk, Dan Theodorescu, Marie Stampe Ostenfeld, Arndt Hartmann, Michael Borre, Torben F Ørntoft and Lars Dyrskjøt
    Citation: BMC Medical Genomics 2012 5:40
  2. Breast cancer is a heterogeneous disease for which prognosis and treatment strategies are largely governed by the receptor status (estrogen, progesterone and Her2) of the tumor cells. Gene expression profiling...

    Authors: Julia Tchou, Andrew V Kossenkov, Lisa Chang, Celine Satija, Meenhard Herlyn, Louise C Showe and Ellen Puré
    Citation: BMC Medical Genomics 2012 5:39
  3. By regulating digestion and absorption of nutrients and providing a barrier against the external environment the intestine provides a crucial contribution to the maintenance of health. To what extent aging-rel...

    Authors: Wilma T Steegenga, Nicole JW de Wit, Mark V Boekschoten, Noortje IJssennagger, Carolien Lute, Shohreh Keshtkar, Mechteld M Grootte Bromhaar, Ellen Kampman, Lisette C de Groot and Michael Muller
    Citation: BMC Medical Genomics 2012 5:38
  4. Imatinib mesylate is currently the drug of choice to treat chronic myeloid leukemia. However, patient resistance and cytotoxicity make secondary lines of treatment, such as omacetaxine mepesuccinate, a necessi...

    Authors: Hemant Kulkarni, Harald H H Göring, Vincent Diego, Shelley Cole, Ken R Walder, Greg R Collier, John Blangero and Melanie A Carless
    Citation: BMC Medical Genomics 2012 5:37
  5. Gankyrin was originally purified and characterized as the p28 component of the 26S proteasome, and later identified as an oncogenic protein in hepatocellular carcinomas (HCC). It has recently been found to be ...

    Authors: Xue Luo, Liang Chen, Jiang Dai, Yanfei Gao, Hongli Wang, Na Wang, Yongqiang Zhao, Feng Liu, Zhihong Sang, Jie Wang, Weihua Li, Kun He, Baofeng Jin, Jianghong Man, Wei Zhang and Qing Xia
    Citation: BMC Medical Genomics 2012 5:36
  6. Affymetrix GeneChips and Illumina BeadArrays are the most widely used commercial single channel gene expression microarrays. Public data repositories are an extremely valuable resource, providing array-derived...

    Authors: Arran K Turnbull, Robert R Kitchen, Alexey A Larionov, Lorna Renshaw, J Michael Dixon and Andrew H Sims
    Citation: BMC Medical Genomics 2012 5:35
  7. While there is strong evidence for phosphatidylinositol 3-kinase (PI3K) involvement in cancer development, there is limited information about the role of PI3K regulatory subunits. PIK3R3, the gene that encodes...

    Authors: Jin Zhou, Geng Bo Chen, Yew Chung Tang, Rohit Anthony Sinha, Yonghui Wu, Chui Sun Yap, Guihua Wang, Junbo Hu, Xianmin Xia, Patrick Tan, Liang Kee Goh and Paul Michael Yen
    Citation: BMC Medical Genomics 2012 5:34
  8. MicroRNAs (miRNAs) are a class of small RNAs that have been linked to a number of diseases including cancer. The potential application of miRNAs in the diagnostics and therapeutics of ovarian and other cancers...

    Authors: Shubin W Shahab, Lilya V Matyunina, Christopher G Hill, Lijuan Wang, Roman Mezencev, L DeEtte Walker and John F McDonald
    Citation: BMC Medical Genomics 2012 5:33
  9. Sulfamethoxazole (SMX) is a commonly used antibiotic for prevention of infectious diseases associated with HIV/AIDS and immune-compromised states. SMX-induced hypersensitivity is an idiosyncratic cutaneous dru...

    Authors: Danxin Wang, Amanda Curtis, Audrey C Papp, Susan L Koletar and Michael F Para
    Citation: BMC Medical Genomics 2012 5:32
  10. Erythropoietin (EPO) is known to improve exercise performance by increasing oxygen blood transport and thus inducing a higher maximum oxygen uptake (VO2max). Furthermore, treatment with (or overexpression of) EPO...

    Authors: Laurence Mille-Hamard, Veronique L Billat, Elodie Henry, Blandine Bonnamy, Florence Joly, Philippe Benech and Eric Barrey
    Citation: BMC Medical Genomics 2012 5:29
  11. Transcriptomic studies in clinical research are essential tools for deciphering the functional elements of the genome and unraveling underlying disease mechanisms. Various technologies have been developed to d...

    Authors: Nalini Raghavachari, Jennifer Barb, Yanqin Yang, Poching Liu, Kimberly Woodhouse, Daniel Levy, Christopher J O‘Donnell, Peter J Munson and Gregory J Kato
    Citation: BMC Medical Genomics 2012 5:28
  12. Asthma is a chronic inflammatory airway disease influenced by genetic and environmental factors that affects ~300 million people worldwide, leading to ~250,000 deaths annually. Glucocorticoids (GCs) are well-k...

    Authors: Diego Diez, Susumu Goto, John V Fahy, David J Erle, Prescott G Woodruff, Ã…sa M Wheelock and Craig E Wheelock
    Citation: BMC Medical Genomics 2012 5:27
  13. The noninvasive prenatal diagnosis procedures that are currently used to detect genetic diseases do not achieve desirable levels of sensitivity and specificity. Recently, fetal methylated DNA biomarkers in mat...

    Authors: Aihua Yin, Xiangzhong Zhang, Jing Wu, Li Du, Tianwen He and Xiaozhuang Zhang
    Citation: BMC Medical Genomics 2012 5:26
  14. Abdominal aortic aneurysm (AAA) is a dilatation of the aorta affecting most frequently elderly men. Histologically AAAs are characterized by inflammation, vascular smooth muscle cell apoptosis, and extracellul...

    Authors: Matthew C Pahl, Kimberly Derr, Gabor Gäbel, Irene Hinterseher, James R Elmore, Charles M Schworer, Thomas C Peeler, David P Franklin, John L Gray, David J Carey, Gerard Tromp and Helena Kuivaniemi
    Citation: BMC Medical Genomics 2012 5:25
  15. Batch effects due to sample preparation or array variation (type, charge, and/or platform) may influence the results of microarray experiments and thus mask and/or confound true biological differences. Of the ...

    Authors: Peter Kupfer, Reinhard Guthke, Dirk Pohlers, Rene Huber, Dirk Koczan and Raimund W Kinne
    Citation: BMC Medical Genomics 2012 5:23
  16. Lung cancer is the worldwide leading cause of death from cancer. Tobacco usage is the major pathogenic factor, but all lung cancers are not attributable to smoking. Specifically, lung cancer in never-smokers h...

    Authors: Johan Staaf, Göran Jönsson, Mats Jönsson, Anna Karlsson, Sofi Isaksson, Annette Salomonsson, Helen M Pettersson, Maria Soller, Sven-Börje Ewers, Leif Johansson, Per Jönsson and Maria Planck
    Citation: BMC Medical Genomics 2012 5:22
  17. Mucus hypersecretion contributes to the morbidity and mortality of smoking-related lung diseases, especially chronic obstructive pulmonary disease (COPD), which starts in the small airways. Despite progress in...

    Authors: Guoqing Wang, Zhibo Xu, Rui Wang, Mohammed Al-Hijji, Jacqueline Salit, Yael Strulovici-Barel, Ann E Tilley, Jason G Mezey and Ronald G Crystal
    Citation: BMC Medical Genomics 2012 5:21
  18. Methylation levels of long interspersed nucleotide elements (LINE-1) are representative of genome-wide methylation status and play an important role in maintaining genomic stability and gene expression. To der...

    Authors: Wei Sheng, Huijun Wang, Xiaojing Ma, Yanyan Qian, Ping Zhang, Yao Wu, Fengyun Zheng, Long Chen, Guoying Huang and Duan Ma
    Citation: BMC Medical Genomics 2012 5:20
  19. The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This st...

    Authors: Jean E Abraham, Mel J Maranian, Inmaculada Spiteri, Roslin Russell, Susan Ingle, Craig Luccarini, Helena M Earl, Paul PD Pharoah, Alison M Dunning and Carlos Caldas
    Citation: BMC Medical Genomics 2012 5:19
  20. Cancer stem cells (CSCs) are thought to be a source of tumor recurrence due to their stem cell-like properties. MicroRNAs (miRNAs) regulate both normal stem cells and CSCs, and dysregulation of miRNAs has an i...

    Authors: Eun Ji Nam, Maria Lee, Ga Won Yim, Jae Hoon Kim, Sunghoon Kim, Sang Wun Kim and Young Tae Kim
    Citation: BMC Medical Genomics 2012 5:18
  21. Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and exp...

    Authors: Sarah De Keulenaer, Jan Hellemans, Steve Lefever, Jean-Pierre Renard, Joachim De Schrijver, Hendrik Van de Voorde, Mohammad Amin Tabatabaiefar, Filip Van Nieuwerburgh, Daisy Flamez, Filip Pattyn, Bieke Scharlaken, Dieter Deforce, Sofie Bekaert, Wim Van Criekinge, Jo Vandesompele, Guy Van Camp…
    Citation: BMC Medical Genomics 2012 5:17
  22. Dupuytren's contracture (DC) is a fibroproliferative disorder characterized by the progressive development of a scar-like collagen-rich cord that affects the palmar fascia of the hand and leads to digital flex...

    Authors: Latha Satish, William A LaFramboise, Sandra Johnson, Linda Vi, Anna Njarlangattil, Christina Raykha, John Michael Krill-Burger, Phillip H Gallo, David B O'Gorman, Bing Siang Gan, Mark E Baratz, Garth D Ehrlich and Sandeep Kathju
    Citation: BMC Medical Genomics 2012 5:15
  23. To elucidate gene expression associated with copy number changes, we performed a genome-wide copy number and expression microarray analysis of 25 pairs of gastric tissues.

    Authors: Lei Cheng, Ping Wang, Sheng Yang, Yanqing Yang, Qing Zhang, Wen Zhang, Huasheng Xiao, Hengjun Gao and Qinghua Zhang
    Citation: BMC Medical Genomics 2012 5:14
  24. High throughput technologies offer insight into disease processes and heightens opportunities for improved diagnostics. Using transcriptomic analyses, we aimed to discover and to evaluate the clinical validity...

    Authors: Adam D Irwin, Fiona Marriage, Limangeni A Mankhambo, IPD Study Group, Graham Jeffers, Ruwanthi Kolamunnage-Dona, Malcolm Guiver, Brigitte Denis, Elizabeth M Molyneux, Malcolm E Molyneux, Philip J Day and Enitan D Carrol
    Citation: BMC Medical Genomics 2012 5:13
  25. We explored the imputation performance of the program IMPUTE in an admixed sample from Mexico City. The following issues were evaluated: (a) the impact of different reference panels (HapMap vs. 1000 Genomes) o...

    Authors: S Krithika, Adán Valladares-Salgado, Jesus Peralta, Jorge Escobedo-de La Peña, Jesus Kumate-Rodríguez, Miguel Cruz and Esteban J Parra
    Citation: BMC Medical Genomics 2012 5:12
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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

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