DNA methylation changes in ovarian cancer are cumulative with disease progression and identify tumor stage.

abstract：BACKGROUND:Preterm birth (PTB), defined as infant delivery before 37 weeks of completed gestation, results from the interaction of both genetic and environmental components and constitutes a complex multifactorial syndrome. Transcriptome analysis of PTB has proven challenging because of the multiple causes of PTB and t...

journal_title：BMC medical genomics

authors： Pereyra S,Sosa C,Bertoni B,Sapiro R

更新日期：2019-04-01 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: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:The opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have been identified, many of the genetic associations have not been independently replicated, and it is no...

journal_title：BMC medical genomics

authors： Heil J,Zajic S,Albertson E,Brangan A,Jones I,Roberts W,Sabia M,Bodofsky E,Resch A,Rafeq R,Haroz R,Buono R,Ferraro TN,Scheinfeldt L,Salzman M,Baston K

更新日期：2021-01-07 00:00:00

abstract：BACKGROUND:Bladder cancer has numerous genomic features that are potentially actionable by targeted agents. Nevertheless, both pre-clinical and clinical research using molecular targeted agents have been very limited in bladder cancer. RESULTS:We created the Genomics of Drug Sensitivity in Bladder Cancer (GDBC) databa...

journal_title：BMC medical genomics

authors： Ansari AA,Park I,Kim I,Park S,Ahn SM,Lee JL

更新日期：2018-10-03 00:00:00

abstract：BACKGROUND:Cardiac pathological hypertrophy is associated with a significantly increased risk of coronary heart disease and has been observed in diabetic patients treated with rosiglitazone whereas most published studies do not suggest a similar increase in risk of cardiovascular events in pioglitazone-treated diabetic...

journal_title：BMC medical genomics

authors： Verschuren L,Wielinga PY,Kelder T,Radonjic M,Salic K,Kleemann R,van Ommen B,Kooistra T

更新日期：2014-06-17 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: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:The rapid adoption of next-generation sequencing provides an efficient system for detecting somatic alterations in neoplasms. The detection of such alterations requires a matched non-neoplastic sample for adequate filtering of non-somatic events such as germline polymorphisms. Non-neoplastic tissue adjacent ...

journal_title：BMC medical genomics

authors： Wei L,Papanicolau-Sengos A,Liu S,Wang J,Conroy JM,Glenn ST,Brese E,Hu Q,Miles KM,Burgher B,Qin M,Head K,Omilian AR,Bshara W,Krolewski J,Trump DL,Johnson CS,Morrison CD

更新日期：2016-10-19 00:00:00

abstract：BACKGROUND:Childhood leukemia is characterized by the presence of balanced chromosomal translocations or by other structural or numerical chromosomal changes. It is well know that leukemias with specific molecular abnormalities display profoundly different global gene expression profiles. However, it is largely unknown...

journal_title：BMC medical genomics

authors： Andersson A,Edén P,Olofsson T,Fioretos T

更新日期：2010-03-08 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: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: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: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: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: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:Head and neck squamous cell carcinoma (HNSCC) is one of the most common malignancies in humans. The average 5-year survival rate is one of the lowest among aggressive cancers, showing no significant improvement in recent years. When detected early, HNSCC has a good prognosis, but most patients present metast...

journal_title：BMC medical genomics

authors： Silveira NJ,Varuzza L,Machado-Lima A,Lauretto MS,Pinheiro DG,Rodrigues RV,Severino P,Nobrega FG,Head and Neck Genome Project GENCAPO.,Silva WA Jr,de B Pereira CA,Tajara EH

更新日期：2008-11-11 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:Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe amplification (MLPA). However, since many genetic carrier screens depend instead on next-generation...

journal_title：BMC medical genomics

authors： Kozareva V,Stroff C,Silver M,Freidin JF,Delaney NF

更新日期：2018-10-20 00:00:00

abstract：BACKGROUND:While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies are urgently needed to improve survival and quality of life in pediatric patients with sarcomas. Com...

journal_title：BMC medical genomics

authors： Cheng L,Pandya PH,Liu E,Chandra P,Wang L,Murray ME,Carter J,Ferguson M,Saadatzadeh MR,Bijangi-Visheshsaraei K,Marshall M,Li L,Pollok KE,Renbarger JL

更新日期：2019-01-31 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

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: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: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:The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis of lung cancer, its sensitivity is imperfect, especially for small and peripheral suspicious lesion...

journal_title：BMC medical genomics

authors： Whitney DH,Elashoff MR,Porta-Smith K,Gower AC,Vachani A,Ferguson JS,Silvestri GA,Brody JS,Lenburg ME,Spira A

更新日期：2015-05-06 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:A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics. This analysis is challenged by the fact that schwannomas in both conditions bear a somatic double inactivat...

journal_title：BMC medical genomics

authors： Castellanos E,Bielsa I,Carrato C,Rosas I,Solanes A,Hostalot C,Amilibia E,Prades J,Roca-Ribas F,Lázaro C,Blanco I,Serra E,NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC.

更新日期：2015-01-24 00:00:00

abstract：BACKGROUND:DNA methylation is thought to be extensively involved in the pathogenesis of many diseases, including major psychosis. However, most studies focus on DNA methylation alteration at promoters of protein-coding genes, despite the poor correlation between DNA methylation and gene expression. METHODS:We analyzed...

journal_title：BMC medical genomics

authors： Zhao H,Xu J,Pang L,Zhang Y,Fan H,Liu L,Liu T,Yu F,Zhang G,Lan Y,Bai J,Li X,Xiao Y

更新日期：2015-10-14 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: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