The similarity of inherited diseases (II): clinical and biological similarity between the phenotypic series.

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: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 study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, a...

journal_title：BMC medical genomics

authors： Abraham JE,Maranian MJ,Spiteri I,Russell R,Ingle S,Luccarini C,Earl HM,Pharoah PP,Dunning AM,Caldas C

更新日期：2012-05-30 00:00:00

abstract：BACKGROUND:Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence obse...

journal_title：BMC medical genomics

authors： McKenzie M,Henders AK,Caracella A,Wray NR,Powell JE

更新日期：2014-06-03 00:00:00

abstract：BACKGROUND:As the sixth most common cancer worldwide, head and neck squamous cell carcinoma (HNSCC) develops visceral metastases during the advanced stage of the disease and exhibits a low five-year survival rate. The importance of tumor microenvironment (TME) in tumor initiation and metastasis is widely recognized. In...

journal_title：BMC medical genomics

authors： Zhong Z,Hong M,Chen X,Xi Y,Xu Y,Kong D,Deng J,Li Y,Hu R,Sun C,Liang J

更新日期：2020-03-30 00:00:00

abstract：BACKGROUND:Preeclampsia (PE) is a pregnancy-related condition that affects both the infant and the mother. Although the role of various inflammatory molecules in PE has been demonstrated, the importance of pro-inflammatory molecules such as IL-17A, IL-23 is not well understood. In the present investigation, a potential...

journal_title：BMC medical genomics

authors： Lang X,Liu W,Hou Y,Zhao W,Yang X,Chen L,Yan Q,Cheng W

更新日期：2021-01-06 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been repor...

journal_title：BMC medical genomics

authors： Furuya M,Kobayashi H,Baba M,Ito T,Tanaka R,Nakatani Y

更新日期：2018-05-02 00:00:00

abstract：BACKGROUND:Neuroblastoma (NB) tumors are well known for their pronounced clinical and molecular heterogeneity. The global gene expression and DNA copy number alterations have been shown to have profound differences in tumors of low or high stage and those with or without MYCN amplification. RNA splicing is an important...

journal_title：BMC medical genomics

authors： Guo X,Chen QR,Song YK,Wei JS,Khan J

更新日期：2011-04-18 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: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:Inflammation is a hallmark of many human diseases. Elucidating the mechanisms underlying systemic inflammation has long been an important topic in basic and clinical research. When primary pathogenetic events remains unclear due to its immense complexity, construction and analysis of the gene regulatory netw...

journal_title：BMC medical genomics

authors： Chen BS,Yang SK,Lan CY,Chuang YJ

更新日期：2008-09-30 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:Cancer shows a great diversity in its clinical behavior which cannot be easily predicted using the currently available clinical or pathological markers. The identification of pathways associated with lymph node metastasis (N+) and recurrent head and neck squamous cell carcinoma (HNSCC) may increase our under...

journal_title：BMC medical genomics

authors： Coló AE,Simoes AC,Carvalho AL,Melo CM,Fahham L,Kowalski LP,Soares FA,Neves EJ,Reis LF,Carvalho AF

更新日期：2011-04-13 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: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: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: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: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：:Sickle cell disease and β thalassemia are common severe diseases with little effective pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic approaches to identify modifiers that ultimately might be exploited therapeutically. Fetal hemoglobin (HbF) is the major modulator of the phenotyp...

journal_title：BMC medical genomics

authors： Ngo DA,Steinberg MH

更新日期：2015-07-29 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: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:Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of hea...

journal_title：BMC medical genomics

authors： Lu M,Lewis CM,Traylor M

更新日期：2017-06-19 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: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:Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at ri...

journal_title：BMC medical genomics

authors： Pasińska M,Łazarczyk E,Jułga K,Bartnik-Głaska M,Nowakowska B,Haus O

更新日期：2018-08-20 00:00:00

abstract：BACKGROUND:Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes ...

journal_title：BMC medical genomics

authors： Chater-Diehl E,Ejaz R,Cytrynbaum C,Siu MT,Turinsky A,Choufani S,Goodman SJ,Abdul-Rahman O,Bedford M,Dorrani N,Engleman K,Flores-Daboub J,Genevieve D,Mendoza-Londono R,Meschino W,Perrin L,Safina N,Townshend S,Scherer S

更新日期：2019-07-09 00:00:00

abstract：BACKGROUND:DNA methylation levels will be important for detection of epigenetic effects. However, there are few reports showing sex-related differences in the sensitivity to DNA methylation. To evaluate their sex-related individual differences in the sensitivity to methylation rigorously, we performed a systematic anal...

journal_title：BMC medical genomics

authors： Watanabe M,Honda C,Osaka Twin Research Group.,Iwatani Y,Yorifuji S,Iso H,Kamide K,Hatazawa J,Kihara S,Sakai N,Watanabe H,Makimoto K,Watanabe M,Honda C,Iwatani Y

更新日期：2016-08-26 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:The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into smaller areas within a tissue sample, e.g. a cancerous area in a heterogeneous tissue sample, less mate...

journal_title：BMC medical genomics

authors： Friedrich S,Barbulescu R,Helleday T,Sonnhammer ELL

更新日期：2020-06-01 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: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 order to mimic inflammation in vivo with the aim to identify tissue-specific processes implicated in ...

journal_title：BMC medical genomics

authors： Szalowska E,Dijkstra M,Elferink MG,Weening D,de Vries M,Bruinenberg M,Hoek A,Roelofsen H,Groothuis GM,Vonk RJ

更新日期：2011-10-06 00:00:00