Defining "mutation" and "polymorphism" in the era of personal genomics.

abstract：BACKGROUND:Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been entirely understood. This study intended to investigate the common and tissue-specific pathways invol...

journal_title：BMC medical genomics

authors： Karimizadeh E,Sharifi-Zarchi A,Nikaein H,Salehi S,Salamatian B,Elmi N,Gharibdoost F,Mahmoudi M

更新日期：2019-12-27 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: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: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: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: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: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:Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of this gene expression profiling study was to evaluate to what extent suboptimal samples with low leu...

journal_title：BMC medical genomics

authors： de la Blétière DR,Blanchet O,Cornillet-Lefèbvre P,Coutolleau A,Baranger L,Geneviève F,Luquet I,Hunault-Berger M,Beucher A,Schmidt-Tanguy A,Zandecki M,Delneste Y,Ifrah N,Guardiola P

更新日期：2012-01-30 00:00:00

abstract：BACKGROUND:Prostate cancer is one of the most common complex diseases with high leading cause of death in men. Identifications of prostate cancer associated genes and biomarkers are thus essential as they can gain insights into the mechanisms underlying disease progression and advancing for early diagnosis and developi...

journal_title：BMC medical genomics

authors： Li Y,Vongsangnak W,Chen L,Shen B

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic mutations or genes have been identified in microtia-atresia patients. METHODS:We designed a panel ...

journal_title：BMC medical genomics

authors： Wang P,Wang Y,Fan X,Liu Y,Fan Y,Liu T,Chen C,Zhang S,Chen X

更新日期：2019-01-28 00:00:00

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:We explored the imputation performance of the program IMPUTE in an admixed sample from Mexico City. The following issues were evaluated: (a) the impact of different reference panels (HapMap vs. 1000 Genomes) on imputation; (b) potential differences in imputation performance between single-step vs. two-step (...

journal_title：BMC medical genomics

authors： Krithika S,Valladares-Salgado A,Peralta J,Escobedo-de La Peña J,Kumate-Rodríguez J,Cruz M,Parra EJ

更新日期：2012-05-01 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: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: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：:During June 10-12, 2018, the International Conference on Intelligent Biology and Medicine (ICIBM 2018) was held in Los Angeles, California, USA. The conference included 11 scientific sessions, four tutorials, one poster session, four keynote talks and four eminent scholar talks that covered a wide range of topics rang...

journal_title：BMC medical genomics

authors： Zhi D,Zhao Z,Li F,Wu Z,Liu X,Wang K

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. METHODS:To identify genetic factors for early AMD, we conducted a genome-wide associ...

journal_title：BMC medical genomics

authors： Winkler TW,Grassmann F,Brandl C,Kiel C,Günther F,Strunz T,Weidner L,Zimmermann ME,Korb CA,Poplawski A,Schuster AK,Müller-Nurasyid M,Peters A,Rauscher FG,Elze T,Horn K,Scholz M,Cañadas-Garre M,McKnight AJ,Quinn N,H

更新日期：2020-08-26 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to highly rearranged karyotypes in muscle-invasive lesions. Recent array-CGH analyses have shed further light on the genomic changes underlying the neoplasti...

journal_title：BMC medical genomics

authors： Heidenblad M,Lindgren D,Jonson T,Liedberg F,Veerla S,Chebil G,Gudjonsson S,Borg A,Månsson W,Höglund M

更新日期：2008-01-31 00:00:00

abstract：BACKGROUND:Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While a number of studies have proposed molecular signatures that characterize the spectrum of such transi...

journal_title：BMC medical genomics

authors： Celiku O,Tandle A,Chung JY,Hewitt SM,Camphausen K,Shankavaram U

更新日期：2017-03-09 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:Integrating multiple data sources is indispensable in improving disease gene identification. It is not only due to the fact that disease genes associated with similar genetic diseases tend to lie close with each other in various biological networks, but also due to the fact that gene-disease associations are...

journal_title：BMC medical genomics

authors： Chen B,Li M,Wang J,Shang X,Wu FX

更新日期：2015-01-01 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:Alterations in gene expression in peripheral blood cells have been shown to be sensitive to the presence and extent of coronary artery disease (CAD). A non-invasive blood test that could reliably assess obstructive CAD likelihood would have diagnostic utility. RESULTS:Microarray analysis of RNA samples from...

journal_title：BMC medical genomics

authors： Elashoff MR,Wingrove JA,Beineke P,Daniels SE,Tingley WG,Rosenberg S,Voros S,Kraus WE,Ginsburg GS,Schwartz RS,Ellis SG,Tahirkheli N,Waksman R,McPherson J,Lansky AJ,Topol EJ

更新日期：2011-03-28 00:00:00

abstract：BACKGROUND:2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated ...

journal_title：BMC medical genomics

authors： Sakai Y,Souzaki R,Yamamoto H,Matsushita Y,Nagata H,Ishizaki Y,Torisu H,Oda Y,Taguchi T,Shaw CA,Hara T

更新日期：2014-04-22 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 majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into smaller areas within a tissue sample, e.g. a cancerous area in a heterogeneous tissue sample, less mate...

journal_title：BMC medical genomics

authors： Friedrich S,Barbulescu R,Helleday T,Sonnhammer ELL

更新日期：2020-06-01 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: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: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: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