The Human Gene Mutation Database: 2008 update.

abstract：:Pancreatic cancer is a highly lethal tumor type for which there are few viable therapeutic options. It is also caused by the accumulation of mutations in a variety of genes. These genetic alterations can be grouped into those that accumulate during pancreatic intraepithelial neoplasia (precursor lesions) and thus are ...

journal_title：Genome medicine

authors： Makohon-Moore A,Brosnan JA,Iacobuzio-Donahue CA

更新日期：2013-03-28 00:00:00

abstract：:There are still many open questions in data-analytic research pertaining to biomarker development in the era of personalized/precision medicine and big data. Among them is the question of what constitutes best practice for the extraction of prioritized lists of candidate biomarkers from smaller studies that are 'hypot...

journal_title：Genome medicine

authors： Gaile DP,Miecznikowski JC

更新日期：2013-11-29 00:00:00

abstract：:The number of metabolites identified in human cerebrospinal fluid (CSF) has steadily increased over the past 5 years, and in this issue of Genome Medicine David Wishart and colleagues provide a comprehensive update that brings the number of metabolites listed in the CSF metabolome database to 476 compounds. There is n...

journal_title：Genome medicine

authors： Schwarz E,Torrey EF,Guest PC,Bahn S

更新日期：2012-04-30 00:00:00

abstract：BACKGROUND:The human gut microbiome is associated with the development of colon cancer, and recent studies have found changes in the microbiome in cancer patients compared to healthy controls. Studying the microbial communities in the tumor microenvironment may shed light on the role of host-bacteria interactions in co...

journal_title：Genome medicine

authors： Burns MB,Lynch J,Starr TK,Knights D,Blekhman R

更新日期：2015-06-24 00:00:00

abstract：:Regenerative medicine has a three-body problem: alignment of the dynamics of the genome, stem cell and patient. Focusing on the rare inherited fragile skin disorder epidermolysis bullosa, three recent innovative studies have used induced pluripotent stem cells and gene correction, revertant mosaicism or genome editing...

journal_title：Genome medicine

authors： Tolar J,McGrath JA

更新日期：2015-02-20 00:00:00

abstract：:As many personal genomes are being sequenced, collaborative analysis of those genomes has become essential. However, analysis of personal genomic data raises important privacy and confidentiality issues. We propose a methodology for federated analysis of sequence variants from personal genomes. Specific base-pair posi...

journal_title：Genome medicine

authors： Ardeshirdavani A,Souche E,Dehaspe L,Van Houdt J,Vermeesch JR,Moreau Y

更新日期：2014-09-17 00:00:00

abstract：:A genetic contribution to infectious disease in human populations has long been suspected and is now supported by more than 50 years of epidemiological evidence showing, for example, infection rates to be much higher than disease rates. In successful family studies of high-penetrance effects, single gene mutations hav...

journal_title：Genome medicine

authors： Davila S,Hibberd ML

更新日期：2009-02-10 00:00:00

abstract：:Coinciding with the release of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, two recently published molecular genetics analyses suggest large overlaps in genetic liability to schizophrenia, bipolar disorder and major depressive disorder. This indicates that a broader category of sever...

journal_title：Genome medicine

authors： Uher R

更新日期：2013-10-25 00:00:00

abstract：BACKGROUND:The HHIP gene, encoding Hedgehog interacting protein, has been implicated in chronic obstructive pulmonary disease (COPD) by genome-wide association studies (GWAS), and our subsequent studies identified a functional upstream genetic variant that decreased HHIP transcription. However, little is known about ho...

journal_title：Genome medicine

authors： Lao T,Glass K,Qiu W,Polverino F,Gupta K,Morrow J,Mancini JD,Vuong L,Perrella MA,Hersh CP,Owen CA,Quackenbush J,Yuan GC,Silverman EK,Zhou X

更新日期：2015-02-14 00:00:00

abstract：BACKGROUND:For circadian medicine to influence health, such as when to take a drug or undergo a procedure, a biomarker of molecular clock phase is required--one that is easily measured and generalizable across a broad population. It is not clear that any circadian biomarker yet satisfies these criteria. METHODS:We ana...

journal_title：Genome medicine

authors： Wu G,Ruben MD,Francey LJ,Smith DF,Sherrill JD,Oblong JE,Mills KJ,Hogenesch JB

更新日期：2020-08-21 00:00:00

abstract：:Immunoinformatics involves the application of computational methods to immunological problems. Prediction of B- and T-cell epitopes has long been the focus of immunoinformatics, given the potential translational implications, and many tools have been developed. With the advent of next-generation sequencing (NGS) metho...

journal_title：Genome medicine

authors： Backert L,Kohlbacher O

更新日期：2015-11-20 00:00:00

abstract：BACKGROUND:Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various endogenous and exogenous causes, including normal DNA damage and rep...

journal_title：Genome medicine

authors： Kim YA,Wojtowicz D,Sarto Basso R,Sason I,Robinson W,Hochbaum DS,Leiserson MDM,Sharan R,Vadin F,Przytycka TM

更新日期：2020-05-29 00:00:00

abstract：BACKGROUND:Glioblastoma multiforme, the most common type of primary brain tumor in adults, is driven by cells with neural stem (NS) cell characteristics. Using derivation methods developed for NS cells, it is possible to expand tumorigenic stem cells continuously in vitro. Although these glioblastoma-derived neural ste...

journal_title：Genome medicine

authors： Engström PG,Tommei D,Stricker SH,Ender C,Pollard SM,Bertone P

更新日期：2012-10-09 00:00:00

abstract：:Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder, attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result in significant morbidity and mortality. Although currently classified into distinct disorder categories, they show clinical overlap and f...

journal_title：Genome medicine

authors： Doherty JL,Owen MJ

更新日期：2014-04-28 00:00:00

abstract：BACKGROUND:Imiquimod (IMQ) produces a cutaneous phenotype in mice frequently studied as an acute model of human psoriasis. Whether this phenotype depends on strain or sex has never been systematically investigated on a large scale. Such effects, however, could lead to conflicts among studies, while further impacting st...

journal_title：Genome medicine

authors： Swindell WR,Michaels KA,Sutter AJ,Diaconu D,Fritz Y,Xing X,Sarkar MK,Liang Y,Tsoi A,Gudjonsson JE,Ward NL

更新日期：2017-03-09 00:00:00

abstract：BACKGROUND:Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and monitor disease conditions. Test results are stored in electronic health records (EHRs), and a growing number of EHRs are linked to patient DNA, offering unprecedented opportunities to query relationships between genetic ri...

journal_title：Genome medicine

authors： Dennis JK,Sealock JM,Straub P,Lee YH,Hucks D,Actkins K,Faucon A,Feng YA,Ge T,Goleva SB,Niarchou M,Singh K,Morley T,Smoller JW,Ruderfer DM,Mosley JD,Chen G,Davis LK

更新日期：2021-01-13 00:00:00

abstract：BACKGROUND:Cigarette smoking is well-known to associate with accelerated skin aging as well as cardiovascular disease and lung cancer, in large part due to oxidative stress. Because metabolites are downstream of genetic variation, as well as transcriptional changes and post-translational modifications of proteins, they...

journal_title：Genome medicine

authors： Spitale RC,Cheng MY,Chun KA,Gorell ES,Munoz CA,Kern DG,Wood SM,Knaggs HE,Wulff J,Beebe KD,Chang AL

更新日期：2012-02-23 00:00:00

abstract：BACKGROUND:One of the major challenges in obesity treatment is to explain the high variability in the individual's response to specific dietary and physical activity interventions. With this study, we tested the hypothesis that specific DNA methylation changes reflect individual responsiveness to lifestyle intervention...

journal_title：Genome medicine

authors： Keller M,Yaskolka Meir A,Bernhart SH,Gepner Y,Shelef I,Schwarzfuchs D,Tsaban G,Zelicha H,Hopp L,Müller L,Rohde K,Böttcher Y,Stadler PF,Stumvoll M,Blüher M,Kovacs P,Shai I

更新日期：2020-11-16 00:00:00

abstract：BACKGROUND:Long non-coding RNAs (lncRNAs) are emerging as molecules that significantly impact many cellular processes and have been associated with almost every human cancer. Compared to protein-coding genes, lncRNA genes are often associated with transposable elements, particularly with endogenous retroviral elements ...

journal_title：Genome medicine

authors： Gibb EA,Warren RL,Wilson GW,Brown SD,Robertson GA,Morin GB,Holt RA

更新日期：2015-03-05 00:00:00

abstract：BACKGROUND:Advanced age is associated with cognitive and physical decline and is a major risk factor for a multitude of disorders. There is also a gap in life expectancy between males and females. DNA methylation differences have been shown to be associated with both age and sex. Here, we investigate age-by-sex differe...

journal_title：Genome medicine

authors： McCartney DL,Zhang F,Hillary RF,Zhang Q,Stevenson AJ,Walker RM,Bermingham ML,Boutin T,Morris SW,Campbell A,Murray AD,Whalley HC,Porteous DJ,Hayward C,Evans KL,Chandra T,Deary IJ,McIntosh AM,Yang J,Visscher PM,McRa

更新日期：2019-12-31 00:00:00

abstract：BACKGROUND:Retinoid therapy is widely employed in clinical oncology to differentiate malignant cells into their more benign counterparts. However, certain high-risk cohorts, such as patients with MYCN-amplified neuroblastoma, are innately resistant to retinoid therapy. Therefore, we employed a precision medicine approa...

journal_title：Genome medicine

authors： Duffy DJ,Krstic A,Halasz M,Schwarzl T,Konietzny A,Iljin K,Higgins DG,Kolch W

更新日期：2017-02-10 00:00:00

abstract：:A report on the 62nd Annual Meeting of the American Society of Human Genetics, San Francisco, California, USA, 6-10 November 2012. ...

journal_title：Genome medicine

authors： Zielinski D,Gymrek M,Erlich Y

更新日期：2012-12-19 00:00:00

abstract：:The pioneering work of Jean Dausset on the HLA system established several principles that were later reflected in the Human Genome Project and contributed to the foundations of predictive, preventive, personalized and participatory (P4) medicine. To effectively develop systems medicine, we should take advantage of the...

journal_title：Genome medicine

authors： Auffray C,Charron D,Hood L

更新日期：2010-08-26 00:00:00

abstract：UNLABELLED:Bibliographic records in the PubMed database of biomedical literature are annotated with Medical Subject Headings (MeSH) by curators, which summarize the content of the articles. Two recent publications explain how to generate profiles of MeSH terms for a set of bibliographic records and to use them to defin...

journal_title：Genome medicine

authors： Andrade-Navarro MA

更新日期：2012-10-30 00:00:00

abstract：BACKGROUND:Alzheimer's disease affects ~13% of people in the United States 65 years and older, making it the most common neurodegenerative disorder. Recent work has identified roles for environmental, genetic, and epigenetic factors in Alzheimer's disease risk. METHODS:We performed a genome-wide screen of DNA methylat...

journal_title：Genome medicine

authors： Watson CT,Roussos P,Garg P,Ho DJ,Azam N,Katsel PL,Haroutunian V,Sharp AJ

更新日期：2016-01-19 00:00:00

abstract：:The cancer genome is highly complex, with hundreds of point mutations, translocations, and chromosome gains and losses per tumor. To understand the effects of these alterations, precise models are needed. Traditional approaches to the construction of mouse models are time-consuming and laborious, requiring manipulatio...

journal_title：Genome medicine

authors： Mou H,Kennedy Z,Anderson DG,Yin H,Xue W

更新日期：2015-06-09 00:00:00

abstract：:Considerable progress has been made in identifying genetic risk factors for idiosyncratic adverse drug reactions in the past 30 years. These reactions can affect various tissues and organs, including liver, skin, muscle and heart, in a drug-dependent manner. Using both candidate gene and genome-wide association studie...

journal_title：Genome medicine

authors： Daly AK

更新日期：2013-01-29 00:00:00

abstract：:Systems biology has matured considerably as a discipline over the last decade, yet some of the key challenges separating current research efforts in systems biology and clinically useful results are only now becoming apparent. As these gaps are better defined, the new discipline of systems medicine is emerging as a tr...

journal_title：Genome medicine

authors： Clermont G,Auffray C,Moreau Y,Rocke DM,Dalevi D,Dubhashi D,Marshall DR,Raasch P,Dehne F,Provero P,Tegner J,Aronow BJ,Langston MA,Benson M

更新日期：2009-09-29 00:00:00

abstract：:Selective inhibitors of the kinases BRAF and MEK for the treatment of patients with otherwise refractory BRAF mutant melanoma have demonstrated impressive efficacy, and combination treatment with these agents may prove to be even more effective. However, these drugs are not curative, mainly because of the relatively r...

journal_title：Genome medicine

authors： Settleman J

更新日期：2014-04-28 00:00:00

abstract：BACKGROUND:Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying identified genome wide association studies (GWAS) risk loci. Numerous eQTL studies have been performe...

journal_title：Genome medicine

authors： Blauwendraat C,Francescatto M,Gibbs JR,Jansen IE,Simón-Sánchez J,Hernandez DG,Dillman AA,Singleton AB,Cookson MR,Rizzu P,Heutink P

更新日期：2016-06-10 00:00:00