Computational analysis of the mesenchymal signature landscape in gliomas.

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:Glaucoma is the largest cause of irreversible blindness affecting more than 60 million people globally. The disease is defined as a gradual loss of peripheral vision due to death of Retinal Ganglion Cells (RGC). The RGC death is largely influenced by the rate of aqueous humor production by ciliary processes ...

journal_title：BMC medical genomics

authors： Vishal M,Sharma A,Kaurani L,Alfano G,Mookherjee S,Narta K,Agrawal J,Bhattacharya I,Roychoudhury S,Ray J,Waseem NH,Bhattacharya SS,Basu A,Sen A,Ray K,Mukhopadhyay A

更新日期：2016-03-22 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:Uric acid is the primary byproduct of purine metabolism. Hyperuricemia is associated with body mass index (BMI), sex, and multiple complex diseases including gout, hypertension (HTN), renal disease, and type 2 diabetes (T2D). Multiple genome-wide association studies (GWAS) in individuals of European ancestry...

journal_title：BMC medical genomics

authors： Charles BA,Shriner D,Doumatey A,Chen G,Zhou J,Huang H,Herbert A,Gerry NP,Christman MF,Adeyemo A,Rotimi CN

更新日期：2011-02-04 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:Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic series too might be clinically similar. Furthermore, on the assumption that gene mutations indirectly...

journal_title：BMC medical genomics

authors： Gamba A,Salmona M,Cantù L,Bazzoni G

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studi...

journal_title：BMC medical genomics

authors： Lewis MA,Nolan LS,Cadge BA,Matthews LJ,Schulte BA,Dubno JR,Steel KP,Dawson SJ

更新日期：2018-09-04 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:Reliability of real-time PCR (RT-qPCR) data is dependent on the use of appropriate reference gene(s) for normalization. To date, no validated reference genes have been reported for normalizing gene expression in human myocardium. This study aimed to identify validated reference genes for use in gene expressi...

journal_title：BMC medical genomics

authors： Pilbrow AP,Ellmers LJ,Black MA,Moravec CS,Sweet WE,Troughton RW,Richards AM,Frampton CM,Cameron VA

更新日期：2008-12-29 00:00:00

abstract：BACKGROUND:DNA methylation is a key epigenetic regulator contributing to cancer development. To understand the role of DNA methylation in tumorigenesis, it is important to investigate and compare differential methylation (DM) patterns between normal and case samples across different cancer types. However, current pan-c...

journal_title：BMC medical genomics

authors： Shi M,Tsui SK,Wu H,Wei Y

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge. In this study we developed a novel method for discovering somatic mutation based prognostic signatures. RESULTS:Somatic mutation and clinical data for lung a...

journal_title：BMC medical genomics

authors： Menor M,Zhu Y,Wang Y,Zhang J,Jiang B,Deng Y

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) can arise at any location along the urothelial tract, including the urethra, bladder, ureter, or renal pelvis. Although tumors arising in these various locations have similar morphology, it is unclear whether the gene expression profiles are similar between the upper-tract (ureter a...

journal_title：BMC medical genomics

authors： Zhang Z,Furge KA,Yang XJ,Teh BT,Hansel DE

更新日期：2010-12-15 00:00:00

abstract：BACKGROUND:12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity - 12q14 microduplication syndro...

journal_title：BMC medical genomics

authors： Dória S,Alves D,Pinho MJ,Pinto J,Leão M

更新日期：2020-01-03 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: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:Despite their singular origin, monozygotic twin pairs often display discordance for complex disorders including schizophrenia. It is a common (1%) and often familial disease with a discordance rate of ~50% in monozygotic twins. This high discordance is often explained by the role of yet unknown environmental...

journal_title：BMC medical genomics

authors： Castellani CA,Laufer BI,Melka MG,Diehl EJ,O'Reilly RL,Singh SM

更新日期：2015-05-06 00:00:00

abstract：BACKGROUND:Small non-coding regulatory RNAs control cellular functions at the transcriptional and post-transcriptional levels. Oral squamous cell carcinoma is among the leading cancers in the world and the presence of cervical lymph node metastases is currently its strongest prognostic factor. In this work we aimed at ...

journal_title：BMC medical genomics

authors： Severino P,Oliveira LS,Andreghetto FM,Torres N,Curioni O,Cury PM,Toporcov TN,Paschoal AR,Durham AM

更新日期：2015-06-24 00:00:00

abstract：BACKGROUND:A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION:A 7-year-old female was referred for diagnosis due to gro...

journal_title：BMC medical genomics

authors： Sheth H,Trivedi S,Liehr T,Patel K,Jain D,Sheth J,Sheth F

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:Rhodesiense sleeping sickness is caused by infection with T. b rhodesiense parasites resulting in an acute disease that is fatal if not treated in time. The aim of this study was to understand the global impact of active T. b rhodesiense infection on the patient's immune response in the early and late stages...

journal_title：BMC medical genomics

authors： Mulindwa J,Matovu E,Enyaru J,Clayton C

更新日期：2020-01-30 00:00:00

abstract：BACKGROUND:Current prostate cancer prognostic models are based on pre-treatment prostate specific antigen (PSA) levels, biopsy Gleason score, and clinical staging but in practice are inadequate to accurately predict disease progression. Hence, we sought to develop a molecular panel for prostate cancer progression by re...

journal_title：BMC medical genomics

authors： Sboner A,Demichelis F,Calza S,Pawitan Y,Setlur SR,Hoshida Y,Perner S,Adami HO,Fall K,Mucci LA,Kantoff PW,Stampfer M,Andersson SO,Varenhorst E,Johansson JE,Gerstein MB,Golub TR,Rubin MA,Andrén O

更新日期：2010-03-16 00:00:00

abstract：BACKGROUND:Images embedded in biomedical publications carry rich information that often concisely summarize key hypotheses adopted, methods employed, or results obtained in a published study. Therefore, they offer valuable clues for understanding main content in a biomedical publication. Prior studies have pointed out ...

journal_title：BMC medical genomics

authors： Sheng J,Xu S,Luo X

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past decade, a series of investigations have shown that attacks, rooted in statistical inference methods, can...

journal_title：BMC medical genomics

authors： Wan Z,Vorobeychik Y,Kantarcioglu M,Malin B

更新日期：2017-07-26 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:Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. CASE PRESENTATION:Clinical exome sequencing of the proband revealed a nov...

journal_title：BMC medical genomics

authors： Marakhonov AV,Konovalov FA,Makaov AK,Vasilyeva TA,Kadyshev VV,Galkina VA,Dadali EL,Kutsev SI,Zinchenko RA

更新日期：2018-02-13 00:00:00

abstract：:During June 10-12, 2018, the International Conference on Intelligent Biology and Medicine (ICIBM 2018) was held in Los Angeles, California, USA. The conference included 11 scientific sessions, four tutorials, one poster session, four keynote talks and four eminent scholar talks that covered a wide range of topics rang...

journal_title：BMC medical genomics

authors： Zhi D,Zhao Z,Li F,Wu Z,Liu X,Wang K

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by tradi...

journal_title：BMC medical genomics

authors： West J,Cogan J,Geraci M,Robinson L,Newman J,Phillips JA,Lane K,Meyrick B,Loyd J

更新日期：2008-09-29 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: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:Understanding how genes are expressed specifically in particular tissues is a fundamental question in developmental biology. Many tissue-specific genes are involved in the pathogenesis of complex human diseases. However, experimental identification of tissue-specific genes is time consuming and difficult. Th...

journal_title：BMC medical genomics

authors： Teng S,Yang JY,Wang L

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND: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 relatively low frequency. Tissue and blood samples have now been collected for a number of populati...

journal_title：BMC medical genomics

authors： Yang TH,Kon M,Hung JH,Delisi C

更新日期：2011-08-09 00:00:00