Published in Methods in molecular biology (Clifton, N.J.)
Among the types of damage, DNA double-strand breaks (DSBs) (provoked by various environmental stresses, but also during normal cell metabolic activity) are the most deleterious, as illustrated by the variety of human diseases associated with DSB repair defects. DSBs are repaired by two groups of pathways: homologous recombination (HR) and nonhomolo...
Published in Oecologia
Although microbial participation in litter decomposition is widely known within terrestrial soils, the role and significance of microorganisms during the aerial standing litter phase of decomposition remains poorly investigated. We examined the fungi inhabiting standing leaf litter of Schizachyrium scoparium and Schizachyrium tenerum in a Longleaf ...
Published in Orphanet Journal of Rare Diseases
BackgroundSilver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and maternal uniparental disomy of chromosome 7 (u...
Published in Chinese Journal of Contemporary Pediatrics
目的 分析婴儿肝内胆汁淤积症患儿的临床资料及基因变异特点。 方法 收集2017年6月至2019年6月于首都儿科研究所附属儿童医院消化内科就诊的疑似遗传代谢性婴儿肝内胆汁淤积症患儿的临床资料，采用目标基因捕获结合高通量测序技术进行基因检测，并进行Sanger验证。 结果 共纳入40例患儿，13例（32%）患儿发现致病基因，包括3例 SLC25A13 基因突变导致的希特林蛋白缺乏症，3例 JAG1 基因突变导致的Alagille综合征，3例 ABCB11 基因突变导致的进行性家族性肝内胆汁淤积症2型，1例 HSD3B7 基因突变导致的先天性胆汁酸合成障碍1型，1例 AKR1D1 基因突变导致的先天性胆汁酸合成障碍2型，1例 NPC1 基因突变导致的尼曼匹克病，1例 CFTR 基因突变导致的囊性纤...
Published in BMC Neurology
BackgroundSPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardation on early-onset stage preceding spastic paraplegias in childhood. However, there are many instances of sporadic late-onset HSP...
Published in BMC Bioinformatics
BackgroundThe relentless continuing emergence of new genomic sequencing protocols and the resulting generation of ever larger datasets continue to challenge the meaningful summarization and visualization of the underlying signal generated to answer important qualitative and quantitative biological questions. As a result, the need for novel software...
Published in Journal of Medical Systems
Electronic health record (EHR) systems improve health care services by allowing the combination of health data with clinical decision support features and clinical image analyses. This study presents a modular and distributed platform that is able to integrate and accommodate heterogeneous, multidimensional (omics, histological images and clinical)...
Published in Methods in molecular biology (Clifton, N.J.)
Transcriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed th...
Published in Seizure
Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause of Autosomal Dominant EAF and anecdotally reported in non-familial cases. Pathogenic variants in SCN1A and DEPDC5 have also been described in a few EAF probands belonging to families with heterogeneous...
Published in Virology
Avipoxviruses have been recognised as significant pathogens in the conservation of numerous bird species. However, the vast majority of the avipoxviruses that infect wild birds remain uncharacterised. Here, we characterise a novel avipoxvirus, mudlarkpox virus (MLPV) isolated from an Australian passerine bird, mudlark (Grallina cyanoleuca). In this...
