Small RNAs in metastatic and non-metastatic oral squamous cell carcinoma.

abstract：BACKGROUND:The Cancer Genome Atlas (TCGA) is an important data resource for cancer biologists and oncologists. However, a lack of bioinformatics expertise often hinders experimental cancer biologists and oncologists from exploring the TCGA resource. Although a number of tools have been developed for facilitating cancer...

journal_title：BMC medical genomics

authors： Sun Q,Li M,Wang X

更新日期：2018-08-08 00:00:00

abstract：BACKGROUND:2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated ...

journal_title：BMC medical genomics

authors： Sakai Y,Souzaki R,Yamamoto H,Matsushita Y,Nagata H,Ishizaki Y,Torisu H,Oda Y,Taguchi T,Shaw CA,Hara T

更新日期：2014-04-22 00:00:00

abstract：BACKGROUND: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) on imputation; (b) potential differences in imputation performance between single-step vs. two-step (...

journal_title：BMC medical genomics

authors： Krithika S,Valladares-Salgado A,Peralta J,Escobedo-de La Peña J,Kumate-Rodríguez J,Cruz M,Parra EJ

更新日期：2012-05-01 00:00:00

abstract：BACKGROUND:With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmacogenomics. It represents an attractive independent QC option for NGS-based diagnostic laboratories, a...

journal_title：BMC medical genomics

authors： Ponomarenko P,Ryutov A,Maglinte DT,Baranova A,Tatarinova TV,Gai X

更新日期：2017-10-06 00:00:00

abstract：BACKGROUND: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 proteins, PHLDA2 and PLAGL1) have been associated with birth weight, but these studies are difficult t...

journal_title：BMC medical genomics

authors： Turan N,Ghalwash MF,Katari S,Coutifaris C,Obradovic Z,Sapienza C

更新日期：2012-04-12 00:00:00

abstract：BACKGROUND:The threat of a terrorist-precipitated nuclear event places humans at danger for radiological exposures. Isotopes which emit alpha (α)-particle radiation pose the highest risk. Currently, gene expression signatures are being developed for radiation biodosimetry and triage with respect to ionizing photon radi...

journal_title：BMC medical genomics

authors： Chauhan V,Howland M,Wilkins R

更新日期：2014-07-12 00:00:00

abstract：BACKGROUND:Meiotic recombination happens during the process of meiosis when chromosomes inherited from two parents exchange genetic materials to generate chromosomes in the gamete cells. The recombination events tend to occur in narrow genomic regions called recombination hotspots. Its dysregulation could lead to serio...

journal_title：BMC medical genomics

authors： Guo J,Chen H,Yang P,Lee YT,Wu M,Przytycka TM,Kwoh CK,Zheng J

更新日期：2018-04-20 00:00:00

abstract：BACKGROUND:Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient. Next generation sequencing of RNA (RNA-Seq) is a suitable method to detect targets for individuali...

journal_title：BMC medical genomics

authors： Meißner T,Fisch KM,Gioia L,Su AI

更新日期：2015-05-21 00:00:00

abstract：BACKGROUND:Cytokine-induced killer (CIK) cells are an emerging approach of cancer treatment. Our previous study have shown that CIK cells stimulated with combination of IL-2 and IL-15 displayed improved proliferation capacity and tumor cytotoxicity. However, the mechanisms of CIK cell proliferation and acquisition of c...

journal_title：BMC medical genomics

authors： Wang W,Meng M,Zhang Y,Wei C,Xie Y,Jiang L,Wang C,Yang F,Tang W,Jin X,Chen D,Zong J,Hou Z,Li R

更新日期：2014-08-09 00:00:00

abstract：BACKGROUND:Aberrant epigenetic profiles are concomitant with a spectrum of developmental defects and diseases. Role of methylation is an increasingly accepted factor in the pathophysiology of diabetes and its associated complications. This study aims to examine the correlation between oxidative stress and methylation o...

journal_title：BMC medical genomics

authors： Safi SZ,Qvist R,Yan GO,Ismail IS

更新日期：2014-05-30 00:00:00

abstract：BACKGROUND:The mechanisms underlying neurodegeneration in the striatum of Huntingon's Disease (HD) brain are currently unknown. While the striatum is massively degenerated in symptomatic individuals, which makes cellular characterization difficult, it is largely intact in asymptomatic HD gene positive (HD+) individuals...

journal_title：BMC medical genomics

authors： Agus F,Crespo D,Myers RH,Labadorf A

更新日期：2019-10-16 00:00:00

abstract：BACKGROUND:Dementia with Lewy bodies (DLB) is the second most common subtype of neurodegenerative dementia in humans following Alzheimer's disease (AD). Present clinical diagnosis of DLB has high specificity and low sensitivity and finding potential biomarkers of prodromal DLB is still challenging. MicroRNAs (miRNAs) h...

journal_title：BMC medical genomics

authors： Shigemizu D,Akiyama S,Asanomi Y,Boroevich KA,Sharma A,Tsunoda T,Sakurai T,Ozaki K,Ochiya T,Niida S

更新日期：2019-10-30 00:00:00

abstract：BACKGROUND:Neoantigens can be differentially recognized by T cell receptor (TCR) as these sequences are derived from mutant proteins and are unique to the tumor. The discovery of neoantigens is the first key step for tumor-specific antigen (TSA) based immunotherapy. Based on high-throughput tumor genomic analysis, each...

journal_title：BMC medical genomics

authors： Li Y,Wang G,Tan X,Ouyang J,Zhang M,Song X,Liu Q,Leng Q,Chen L,Xie L

更新日期：2020-04-03 00:00:00

abstract：BACKGROUND:Non-coding RNA has been shown to participate in numerous biological and pathological processes and has attracted increasing attention in recent years. Recent studies have demonstrated that long non-coding RNA and micro RNA can interact through various mechanisms to regulate mRNA. Yet the gene-gene interactio...

journal_title：BMC medical genomics

authors： Liao J,Wang J,Liu Y,Li J,Duan L

更新日期：2019-08-23 00:00:00

abstract：BACKGROUND:Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience acute ciguatera poisoning from consuming toxic fish and a small percentage of these victims will de...

journal_title：BMC medical genomics

authors： Ryan JC,Wu Q,Shoemaker RC

更新日期：2015-04-02 00:00:00

abstract：BACKGROUND:Genomic copy number alterations are widely associated with a broad range of human tumors and offer the potential to be used as a diagnostic tool. Especially in the emerging era of personalized medicine medical informatics tools that allow the fast visualization and analysis of genomic alterations of a patien...

journal_title：BMC medical genomics

authors： Kotliarov Y,Bozdag S,Cheng H,Wuchty S,Zenklusen JC,Fine HA

更新日期：2010-04-09 00:00:00

abstract：BACKGROUND:The zebrafish is recognized as a versatile cancer and drug screening model. However, it is not known whether the estrogen-responsive genes and signaling pathways that are involved in estrogen-dependent carcinogenesis and human cancer are operating in zebrafish. In order to determine the potential of zebrafis...

journal_title：BMC medical genomics

authors： Lam SH,Lee SG,Lin CY,Thomsen JS,Fu PY,Murthy KR,Li H,Govindarajan KR,Nick LC,Bourque G,Gong Z,Lufkin T,Liu ET,Mathavan S

更新日期：2011-05-16 00:00:00

abstract：BACKGROUND:At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer's disease (AD). METHODS:We developed a splicing decision model as a molecular mechanism to identif...

journal_title：BMC medical genomics

authors： Han S,Miller JE,Byun S,Kim D,Risacher SL,Saykin AJ,Lee Y,Nho K,for Alzheimer’s Disease Neuroimaging Initiative.

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been entirely understood. This study intended to investigate the common and tissue-specific pathways invol...

journal_title：BMC medical genomics

authors： Karimizadeh E,Sharifi-Zarchi A,Nikaein H,Salehi S,Salamatian B,Elmi N,Gharibdoost F,Mahmoudi M

更新日期：2019-12-27 00:00:00

abstract：BACKGROUND:Loss of heterozygosity (LOH) is a common genetic event in cancer development, and is known to be involved in the somatic loss of wild-type alleles in many inherited cancer syndromes. The wider involvement of LOH in cancer is assumed to relate to unmasking a somatically mutated tumour suppressor gene through ...

journal_title：BMC medical genomics

authors： Ryland GL,Doyle MA,Goode D,Boyle SE,Choong DY,Rowley SM,Li J,Australian Ovarian Cancer Study Group.,Bowtell DD,Tothill RW,Campbell IG,Gorringe KL

更新日期：2015-08-01 00:00:00

abstract：BACKGROUND:To explore long-non-coding RNA (lncRNA), microRNA (miRNA) and messenger RNA (mRNA) expression profiles and their biological functions in the urine samples in calcium oxalate (CaOx) patients. METHODS:Five CaOx kidney stone patients were recruited in CaOx stone group and six healthy people were included as co...

journal_title：BMC medical genomics

authors： Liang X,Lai Y,Wu W,Chen D,Zhong F,Huang J,Zeng T,Duan X,Huang Y,Zhang S,Li S,Wu W

更新日期：2019-04-29 00:00:00

abstract：BACKGROUND:Since it is assumed that genetic interactions play an important role in understanding the mechanisms of complex diseases, different statistical approaches have been suggested in recent years for this task. One interesting approach is the entropy-based IGENT method by Kwon et al. that promises an efficient de...

journal_title：BMC medical genomics

authors： Malten J,König IR

更新日期：2020-04-23 00:00:00

abstract：BACKGROUND:The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the content, structure, and existing analyses of these datasets. While a number of efforts are underway ...

journal_title：BMC medical genomics

authors： Shi J,Zheng M,Yao L,Ge Y

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND: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 this gene expression profiling study was to evaluate to what extent suboptimal samples with low leu...

journal_title：BMC medical genomics

authors： de la Blétière DR,Blanchet O,Cornillet-Lefèbvre P,Coutolleau A,Baranger L,Geneviève F,Luquet I,Hunault-Berger M,Beucher A,Schmidt-Tanguy A,Zandecki M,Delneste Y,Ifrah N,Guardiola P

更新日期：2012-01-30 00:00:00

abstract：BACKGROUND:With the introduction of increasingly powerful mass spectrometry (MS) techniques for clinical research, several recent large-scale MS proteomics studies have sought to characterize the entire human plasma proteome with a general objective for identifying thousands of proteins leaked from tissues in the circu...

journal_title：BMC medical genomics

authors： Saha S,Harrison SH,Shen C,Tang H,Radivojac P,Arnold RJ,Zhang X,Chen JY

更新日期：2008-04-25 00:00:00

abstract：BACKGROUND: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 detection and molecular classification of cancers. Accurate discrimination of functionally different...

journal_title：BMC medical genomics

authors： Krupp M,Maass T,Marquardt JU,Staib F,Bauer T,König R,Biesterfeld S,Galle PR,Tresch A,Teufel A

更新日期：2011-06-30 00:00:00

abstract：BACKGROUND:One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype information usually identifies a few hundred potential variants. Narrowing it dow...

journal_title：BMC medical genomics

authors： Rao A,Vg S,Joseph T,Kotte S,Sivadasan N,Srinivasan R

更新日期：2018-07-06 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to highly rearranged karyotypes in muscle-invasive lesions. Recent array-CGH analyses have shed further light on the genomic changes underlying the neoplasti...

journal_title：BMC medical genomics

authors： Heidenblad M,Lindgren D,Jonson T,Liedberg F,Veerla S,Chebil G,Gudjonsson S,Borg A,Månsson W,Höglund M

更新日期：2008-01-31 00:00:00

abstract：BACKGROUND:The complexity of genome informatics is a recurring challenge for genome exploration and analysis by students and other non-experts. This complexity creates a barrier to wider implementation of experiential genomics education, even in settings with substantial computational resources and expertise. Reducing ...

journal_title：BMC medical genomics

authors： Linderman MD,McElroy L,Chang L

更新日期：2019-11-27 00:00:00

abstract：BACKGROUND:Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole chromosome and focal copy number variations (CNVs). Whole chromosome CNVs are caused by chromosomal i...

journal_title：BMC medical genomics

authors： Zhao Y,Carter R,Natarajan S,Varn FS,Compton DA,Gawad C,Cheng C,Godek KM

更新日期：2019-05-31 00:00:00