Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.

abstract：BACKGROUND:Novel tuberculosis (TB) vaccines recently tested in humans have been designed to boost immunity induced by the current vaccine, Mycobacterium bovis Bacille Calmette-Guérin (BCG). Because BCG vaccination is used extensively in infants, this population group is likely to be the first in which efficacy trials o...

journal_title：BMC medical genomics

authors： Fletcher HA,Keyser A,Bowmaker M,Sayles PC,Kaplan G,Hussey G,Hill AV,Hanekom WA

更新日期：2009-02-24 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:Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe disease or exacerbations indicates a need to improve ICS actions. METHODS:Glucocorticoid-driven trans...

journal_title：BMC medical genomics

authors： Mostafa MM,Rider CF,Shah S,Traves SL,Gordon PMK,Miller-Larsson A,Leigh R,Newton R

更新日期：2019-01-31 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: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:Postmenopausal hormone therapy (HT) influences endogenous hormone concentrations and increases the risk of breast cancer. Gene expression profiling may reveal the mechanisms behind this relationship.Our objective was to explore potential associations between sex hormones and gene expression in whole blood fr...

journal_title：BMC medical genomics

authors： Waaseth M,Olsen KS,Rylander C,Lund E,Dumeaux V

更新日期：2011-03-31 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:Diabetic retinopathy (DR) is a leading cause of blindness in working age adults. Approximately 95% of patients with Type 1 diabetes develop some degree of retinopathy within 25 years of diagnosis despite normalization of blood glucose by insulin therapy. The goal of this study was to identify molecular chang...

journal_title：BMC medical genomics

authors： Bixler GV,Vanguilder HD,Brucklacher RM,Kimball SR,Bronson SK,Freeman WM

更新日期：2011-05-15 00:00:00

abstract：BACKGROUND:Persistent infection by high risk HPV types (e.g. HPV-16, -18, -31, and -45) is the main risk factor for development of cervical intraepithelial neoplasia and cervical cancer. Tumor necrosis factor (TNF) is a key mediator of epithelial cell inflammatory response and exerts a potent cytostatic effect on norma...

journal_title：BMC medical genomics

authors： Termini L,Boccardo E,Esteves GH,Hirata R Jr,Martins WK,Colo AE,Neves EJ,Villa LL,Reis LF

更新日期：2008-06-27 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：BACKGROUND:Hypermethylation of promoter CpG islands with associated loss of gene expression, and hypomethylation of CpG-rich repetitive elements that may destabilize the genome are common events in most, if not all, epithelial cancers. METHODS:The methylation of 6,502 CpG-rich sequences spanning the genome was analyze...

journal_title：BMC medical genomics

authors： Watts GS,Futscher BW,Holtan N,Degeest K,Domann FE,Rose SL

更新日期：2008-09-30 00:00:00

abstract：BACKGROUND:With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and higher order interactions helps explain the genetic etiology of human diseases, yet genome-wide analysis...

journal_title：BMC medical genomics

authors： Sun R,Xia X,Chong KC,Zee BC,Wu WKK,Wang MH

更新日期：2019-12-24 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:Host protein-protein interaction networks are altered by invading virus proteins, which create new interactions, and modify or destroy others. The resulting network topology favors excessive amounts of virus production in a stressed host cell network. Short linear peptide motifs common to both virus and host...

journal_title：BMC medical genomics

authors： Evans P,Dampier W,Ungar L,Tozeren A

更新日期：2009-05-18 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: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:The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort. METHODS:Thirty-six measures were chosen from the PhenX Toolkit within the following domains: demographics; anthropometrics; alcohol, tobacco and ...

journal_title：BMC medical genomics

authors： McCarty CA,Berg R,Rottscheit CM,Waudby CJ,Kitchner T,Brilliant M,Ritchie MD

更新日期：2014-01-14 00:00:00

abstract：BACKGROUND:Acute erythro- and megakaryoblastic leukaemias are associated with very poor prognoses and the mechanism of blastic transformation is insufficiently elucidated. The murine Graffi leukaemia retrovirus induces erythro- and megakaryoblastic leukaemias when inoculated into NFS mice and represents a good model to...

journal_title：BMC medical genomics

authors： Voisin V,Legault P,Ospina DP,Ben-David Y,Rassart E

更新日期：2010-01-26 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: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 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 maternal peripheral blood have been explored for the noninvasive prenatal detection of genetic disorder...

journal_title：BMC medical genomics

authors： Yin A,Zhang X,Wu J,Du L,He T,Zhang X

更新日期：2012-06-18 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: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: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:Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar ...

journal_title：BMC medical genomics

authors： Markunas CA,Lock E,Soldano K,Cope H,Ding CK,Enterline DS,Grant G,Fuchs H,Ashley-Koch AE,Gregory SG

更新日期：2014-06-25 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:Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affe...

journal_title：BMC medical genomics

authors： Klomp JA,Petillo D,Niemi NM,Dykema KJ,Chen J,Yang XJ,Sääf A,Zickert P,Aly M,Bergerheim U,Nordenskjöld M,Gad S,Giraud S,Denoux Y,Yonneau L,Méjean A,Vasiliu V,Richard S,MacKeigan JP,Teh BT,Furge KA

更新日期：2010-12-16 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:The collection of viable DNA samples is an essential element of any genetics research programme. Biological samples for DNA purification are now routinely collected in many studies with a variety of sampling methods available. Initial observation in this study suggested a reduced genotyping success rate of s...

journal_title：BMC medical genomics

authors： Pulford DJ,Mosteller M,Briley JD,Johansson KW,Nelsen AJ

更新日期：2013-06-10 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