Osteogenesis imperfecta (OI) is an inherited disease in which 90% of the cases result from mutations in the 2 genes, proα1 and proα2, coding for type I c... Hans,Peter,B,... - 《American Journal of Medical Genetics》 被引量: 228发表: 1993年 Medical balloon folding into predetermin...
Building a framework to decode cell type-level and landscape-scale genetic variation of gene regulation Exploring the effect of non-coding variants is complicated by genomic sequences, heterogeneous chromatin configurations, and structural interactions between regulatory elements. Here we propose an analytic...
3,4. Although molecular studies have catalogued more than 50 cortical cell types5, it remains unclear what distinct functions they have in this area. Here we identified a molecularly defined subset of somatostatin (Sst) inhibitory neurons that, in the mouse...
- 《Journal of Medical Internet Research》 被引量: 971发表: 2006年 Improving Patient Safety by Identifying Side Effects from Introducing Bar Coding in Medication Administration Objective: In addition to providing new capabilities, the introduction of technology in complex, sociotechnical systems, such ...
Molecular analysis of Japanese adult-form galactosialidosis patients revealed a common gene rearrangement: an A-to-G base substitution at the position 3 by downstream of exon 7, resulting in skipping of this exon in mRNA. All five cases in this study were found to be homozygous for this ...
Circular RNAs: A novel type of non-coding RNA and their potential implications in antiviral immunity Man Wang, Fei Yu, Wei Wu, Yuan Zhang, Wenguang Chang, Murugavel Ponnusamy, Kun Wang , Peifeng Li Institute for Translational Medicine, Medical College of Qingdao University, Dengzhou Road 38,...
Lysosomal storage diseases are the most common cause of neurodegeneration in children. They are characterised at the cellular level by the accumulation of
Pasmant E, Laurendeau I, Heron D, Vidaud M, Vidaud D, Bieche I (2007) Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer...
Given the number of global malaria cases and deaths, the need for a vaccine against Plasmodium falciparum (Pf) remains pressing. Administration of live, radiation-attenuated Pf sporozoites can fully protect malaria-naïve individuals. Despite the fact
Single-cell RNA sequencing (scRNA-seq) data allows to create cell type specific transcriptome profiles. Such profiles can be aligned with genome-wide association studies (GWASs) to implicate cell type specificity of the traits. Current methods typically