Modified entropy-based procedure detects gene-gene-interactions in unconventional genetic models.

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: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: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:A molecular characterization of Alzheimer's Disease (AD) is the key to the identification of altered gene sets that lead to AD progression. We rely on the assumption that candidate marker genes for a given disease belong to specific pathogenic pathways, and we aim at unveiling those pathways stable across ti...

journal_title：BMC medical genomics

authors： Squillario M,Barla A

更新日期：2011-07-05 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:Loss of heterozygosity (LOH) is a common genetic event in cancer development, and is known to be involved in the somatic loss of wild-type alleles in many inherited cancer syndromes. The wider involvement of LOH in cancer is assumed to relate to unmasking a somatically mutated tumour suppressor gene through ...

journal_title：BMC medical genomics

authors： Ryland GL,Doyle MA,Goode D,Boyle SE,Choong DY,Rowley SM,Li J,Australian Ovarian Cancer Study Group.,Bowtell DD,Tothill RW,Campbell IG,Gorringe KL

更新日期：2015-08-01 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:Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the stomach muscularis that may be contributing to altered gastric motility in idiopathic gastroparesis a...

journal_title：BMC medical genomics

authors： Herring BP,Chen M,Mihaylov P,Hoggatt AM,Gupta A,Nakeeb A,Choi JN,Wo JM

更新日期：2019-06-20 00:00:00

abstract：BACKGROUND:Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past decade, a series of investigations have shown that attacks, rooted in statistical inference methods, can...

journal_title：BMC medical genomics

authors： Wan Z,Vorobeychik Y,Kantarcioglu M,Malin B

更新日期：2017-07-26 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:Glioblastoma is a complex multifactorial disorder that has swift and devastating consequences. Few genes have been consistently identified as prognostic biomarkers of glioblastoma survival. The goal of this study was to identify general and clinical-dependent biomarker genes and biological processes of three...

journal_title：BMC medical genomics

authors： Serão NV,Delfino KR,Southey BR,Beever JE,Rodriguez-Zas SL

更新日期：2011-06-07 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 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: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: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: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:Colon adenocarcinoma (COAD) is one of the most common gastrointestinal cancers globally. Molecular aberrations of tumor suppressors and/or oncogenes are the main contributors to tumorigenesis. However, the exact underlying mechanisms of COAD pathogenesis are clearly not known yet. In this regard, there is an...

journal_title：BMC medical genomics

authors： Poursheikhani A,Abbaszadegan MR,Nokhandani N,Kerachian MA

更新日期：2020-07-29 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: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: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：BACKGROUND:Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-wide association studi...

journal_title：BMC medical genomics

authors： Lewis MA,Nolan LS,Cadge BA,Matthews LJ,Schulte BA,Dubno JR,Steel KP,Dawson SJ

更新日期：2018-09-04 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: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：:In this issue of BMC Medical Genomics Griffin et al. present a user-friendly and freely accessible HIV-associated neurocognitive disorder (HAND) genomic database that compiles viral (HIV-1) genetic sequences and other relevant clinical and treatment data. We discuss the benefits and caveats of public data sharing in N...

journal_title：BMC medical genomics

authors： Cysique LA

更新日期：2015-11-11 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: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: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: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: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