A computational procedure for functional characterization of potential marker genes from molecular data: Alzheimer's as a case study.

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: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: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

abstract：BACKGROUND:A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies-from heritability estimations to genetic association analyses. With the advance in genotyping technologies, whole-genome seq...

journal_title：BMC medical genomics

authors： Lee S,Choi S,Qiao D,Cho M,Silverman EK,Park T,Won S

更新日期：2018-04-20 00:00:00

abstract：BACKGROUND:In addition to their well-documented ocular therapeutic effects, glucocorticoids (GCs) can cause sight-threatening side-effects including ocular hypertension presumably via morphological and biochemical changes in trabecular meshwork (TM) cells. In the present study, we directly compared the glucocorticoid r...

journal_title：BMC medical genomics

authors： Nehmé A,Lobenhofer EK,Stamer WD,Edelman JL

更新日期：2009-09-10 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：:This editorial summarizes eight research articles included in this supplement issue for the 2020 International Conference on Intelligent Biology and Medicine (ICIBM 2020) conference, that was held on August 9-10, 2020 (virtual conference), with a topic on data-driven analytics in biomedical genomics. These articles co...

journal_title：BMC medical genomics

authors： Shi X,Zhao Z,Wang K,Shen L

更新日期：2020-12-28 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: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:Recent advances in whole-genome association studies (WGASs) for human cancer risk are beginning to provide the part lists of low-penetrance susceptibility genes. However, statistical analysis in these studies is complicated by the vast number of genetic variants examined and the weak effects observed, as a r...

journal_title：BMC medical genomics

authors： Bonifaci N,Berenguer A,Díez J,Reina O,Medina I,Dopazo J,Moreno V,Pujana MA

更新日期：2008-12-18 00:00:00

abstract：BACKGROUND:Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to be the critical gene...

journal_title：BMC medical genomics

authors： Li S,Xi KW,Liu T,Zhang Y,Zhang M,Zeng LD,Li J

更新日期：2020-10-06 00:00:00

abstract：BACKGROUND:Methotrexate is one of the earliest cytotoxic drugs used in cancer therapy, and despite the isolation of multiple other folate antagonists, methotrexate maintains its significant role as a treatment for different types of cancer and other disorders. The usefulness of treatment with methotrexate is limited by...

journal_title：BMC medical genomics

authors： Selga E,Morales C,Noé V,Peinado MA,Ciudad CJ

更新日期：2008-08-11 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: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: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:Since it is assumed that genetic interactions play an important role in understanding the mechanisms of complex diseases, different statistical approaches have been suggested in recent years for this task. One interesting approach is the entropy-based IGENT method by Kwon et al. that promises an efficient de...

journal_title：BMC medical genomics

authors： Malten J,König IR

更新日期：2020-04-23 00:00:00

abstract：BACKGROUND:To explore long-non-coding RNA (lncRNA), microRNA (miRNA) and messenger RNA (mRNA) expression profiles and their biological functions in the urine samples in calcium oxalate (CaOx) patients. METHODS:Five CaOx kidney stone patients were recruited in CaOx stone group and six healthy people were included as co...

journal_title：BMC medical genomics

authors： Liang X,Lai Y,Wu W,Chen D,Zhong F,Huang J,Zeng T,Duan X,Huang Y,Zhang S,Li S,Wu W

更新日期：2019-04-29 00:00:00

abstract：BACKGROUND:Prevalence of obesity is increasing to pandemic proportions. However, obese subjects differ in insulin resistance, adipokine production and co-morbidities. Based on fasting plasma analysis, obese subjects were grouped as Low Acylation Stimulating protein (ASP) and Triglyceride (TG) (LAT) vs High ASP and TG (...

journal_title：BMC medical genomics

authors： MacLaren RE,Cui W,Lu H,Simard S,Cianflone K

更新日期：2010-01-27 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: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:Type 1 diabetes (T1D) is a complex disease and harmful to human health, and most of the existing biomarkers are mainly to measure the disease phenotype after the disease onset (or drastic deterioration). Until now, there is no effective biomarker which can predict the upcoming disease (or pre-disease state) ...

journal_title：BMC medical genomics

authors： Liu X,Liu R,Zhao XM,Chen L

更新日期：2013-01-01 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: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: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: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: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:Gulf War Illness (GWI) is a complex multi-symptom disorder that affects up to one in three veterans of this 1991 conflict and for which no effective treatment has been found. Discovering novel treatment strategies for such a complex chronic illness is extremely expensive, carries a high probability of failur...

journal_title：BMC medical genomics

authors： Craddock TJ,Harvey JM,Nathanson L,Barnes ZM,Klimas NG,Fletcher MA,Broderick G

更新日期：2015-07-09 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:Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on the obesity status in 2007 by a range of publications. Recent report on its implication in adipocytes underscored its molecular and functional mechanics in pathology. Still, the population ...

journal_title：BMC medical genomics

authors： Babenko V,Babenko R,Gamieldien J,Markel A

更新日期：2019-03-13 00:00:00

abstract：BACKGROUND:Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases. MET...

journal_title：BMC medical genomics

authors： Alfares A,Alsubaie L,Aloraini T,Alaskar A,Althagafi A,Alahmad A,Rashid M,Alswaid A,Alothaim A,Eyaid W,Ababneh F,Albalwi M,Alotaibi R,Almutairi M,Altharawi N,Alsamer A,Abdelhakim M,Kafkas S,Mineta K,Cheung N,Abdall

更新日期：2020-07-17 00:00:00