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- 1From: BMC Medical Genomics. (Vol. 12, Issue 1) Peer-ReviewedBackground We assessed the stability of BAFF, interferon, plasma cell and LDG neutrophil gene expression signatures over time, and whether changes in expression coincided with changes in SLE disease activity. Methods...
- 2From: BMC Medical Genomics. (Vol. 12, Issue 1) Peer-ReviewedBackground Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial...
- 3From: BMC Medical Genomics. (Vol. 12, Issue 1) Peer-ReviewedBackground The chromosome 3q29 microdeletion syndrome is characterized by a clinical phenotype that includes behavioral features consistent with autism and attention deficit hyperactivity disorder, mild to moderate...
- 4From: BMC Medical Genomics. Peer-ReviewedBackground Wild-type (wt) polyglutamine (polyQ) regions are implicated in stabilization of protein-protein interactions (PPI). Pathological polyQ expansion, such as that in human Ataxin-1 (ATXN1), that causes...
- 5From: BMC Medical Genomics. (Vol. 12, Issue 1) Peer-ReviewedBackground Hypospadias risk-associated gene variants have been reported in populations of European descent using genome-wide association studies (GWASs). There is little known at present about any possible hypospadias...
- 6From: BMC Medical Genomics. (Vol. 13, Issue Suppl 5) Peer-ReviewedBackground Alzheimer's disease (AD) is one of the leading causes of death in the US and there is no validated drugs to stop, slow or prevent AD. Despite tremendous effort on biomarker discovery, existing findings are...
- 7From: BMC Medical Genomics. (Vol. 13, Issue 1) Peer-ReviewedBackground As the sixth most common cancer worldwide, head and neck squamous cell carcinoma (HNSCC) develops visceral metastases during the advanced stage of the disease and exhibits a low five-year survival rate. The...
- 8From: BMC Medical Genomics. (Vol. 13, Issue Suppl 5) Peer-ReviewedIn this editorial, we briefly summarized the International Conference on Intelligent Biology and Medicine 2019 (ICIBM 2019) that was held on June 9-11, 2019 at Columbus, Ohio, USA. We further introduced the 19 research...
- 9From: BMC Medical Genomics. (Vol. 13, Issue Suppl 7) Peer-ReviewedBackground Blockchain has emerged as a decentralized and distributed framework that enables tamper-resilience and, thus, practical immutability for stored data. This immutability property is important in scenarios...
- 10From: BMC Medical Genomics. (Vol. 13, Issue 1) Peer-ReviewedBackground Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of...
- 11From: BMC Medical Genomics. (Vol. 13, Issue 1) Peer-ReviewedBackground Cold acclimation and exercise training were previously shown to increase peripheral insulin sensitivity in human volunteers with type 2 diabetes. Although cold is a potent activator of brown adipose tissue,...
- 12From: BMC Medical Genomics. (Vol. 13, Issue 1) Peer-ReviewedBackground Differential expression (DE) analysis of transcriptomic data enables genome-wide analysis of gene expression changes associated with biological conditions of interest. Such analysis often provides a wide...
- 13From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Long noncoding RNAs (lncRNAs) are involved in a variety of human immune diseases. However, the expression profile and precise function of lncRNAs in allergic rhinitis (AR) remain unknown. In the present...
- 14From: BMC Medical Genomics. (Vol. 13, Issue 1) Peer-ReviewedBackground Biomarker identification is one of the major and important goal of functional genomics and translational medicine studies. Large scale -omics data are increasingly being accumulated and can provide vital...
- 15From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk...
- 16From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV...
- 17From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Polygenic scores--which quantify inherited risk by integrating information from many common sites of DNA variation--may enable a tailored approach to clinical medicine. However, alongside considerable...
- 18From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Primary adrenal insufficiency (PAI) is life-threatening, and a definitive aetiological diagnosis is essential for management and prognostication. We conducted this study to investigate the genetic...
- 19From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Pancreatic cancer is one of the most common malignant tumors of the digestive tract, and it has a poor prognosis. Traditional methods are not effective to accurately assess the prognosis of patients with...
- 20From: BMC Medical Genomics. (Vol. 14, Issue 1) Peer-ReviewedBackground Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses,...