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Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegener...
Abstract Background Phospholipase A2 group VI (PLA2G6) mutations associated with neurodegeneration (PLAN) manifest as heterogeneous neurodegenerative disorders with variable... -
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb del...
Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. A significant portion of OCA patients has been found with a single pathogenic variant... -
Distribution of nickel and chromium containing particles from tattoo needle w...
Abstract Background Allergic reactions to tattoos are amongst the most common side effects occurring with this permanent deposition of pigments into the dermal skin layer. The... -
The impairment of small nerve fibers in severe sepsis and septic shock
Abstract Background A decrease of small nerve fibers in skin biopsies during the course of critical illness has been demonstrated recently. However, the diagnostic use of skin... -
Feasibility and acceptance of exercise recommendations (10,000 steps a day) w...
Abstract Background Benefits of exercise to prevent non-communicable diseases are well-documented. Limited data exists to promote physical activity in healthy but sedentary... -
TSS seq based core promoter architecture in blood feeding Tsetse fly (Glossin...
Abstract Background Transcription initiation regulation is mediated by sequence-specific interactions between DNA-binding proteins (transcription factors) and cis-elements,... -
Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: re...
Abstract Background Pigmentary mosaicism constitutes a heterogeneous group of skin pigmentation alterations associated with multisystem involvement. The aim of this study was to... -
Identification of G-quadruplex structures that possess transcriptional regula...
Abstract Background G-quadruplex is a DNA secondary structure that has been shown to play an important role in biological systems. In a previous study, we identified 1998... -
Reduced expression of miR-146a in human bronchial epithelial cells alters neu...
Abstract Background The role of miRNAs in the pathogenesis and determining the phenotypes of asthma is not fully elucidated. miR-146a has been previously shown to suppress... -
Horizontal gene transfer is not a hallmark of the human genome
Abstract Crisp et al. recently reported that 145 human genes have been horizontally transferred from distant species. Here, I re-analyze those genes listed by Crisp et al. as... -
A novel nonsense mutation in the tyrosinase gene is related to the albinism i...
Abstract Background Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be... -
Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic l...
Abstract Background The TANK-Binding Kinase 1 (TBK1) gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia (FTD) and... -
Maternal influences on oral and faecal microbiota maturation in neonatal calv...
Abstract Background The dam is considered an important source of microbes for the calf; consequently, the development of calf microbiota may vary with farming system due to... -
Identifying the effect of patient sharing on between-hospital genetic differe...
Abstract Background Methicillin-resistant Staphylococcus aureus (MRSA) is one of the most common healthcare-associated pathogens. To examine the role of inter-hospital patient... -
Polygenic risk for coronary heart disease acts through atherosclerosis in typ...
Abstract Background Type 2 diabetes increases the risk of coronary heart disease (CHD), yet the mechanisms involved remain poorly described. Polygenic risk scores (PRS) provide... -
High-Quality draft genome sequence of the Lotus spp. microsymbiont Mesorhizob...
Abstract Mesorhizobium loti strain CJ3Sym was isolated in 1998 following transfer of the integrative and conjugative element ICEMlSymR7A, also known as the R7A symbiosis island,... -
Identification and validation of a Schistosoma japonicum U6 promoter
Abstract Background RNA polymerase III promoters have been widely used to express short hairpin-RNA (shRNA), microRNA (miRNA), and small guide RNA (sgRNA) in gene functional... -
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Abstract Background Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive... -
Chromosomal integration vectors allowing flexible expression of foreign genes...
Abstract Background Campylobacter jejuni is a major cause of human gastroenteritis yet there is limited knowledge of how disease is caused. Molecular genetic approaches are... -
MEN1 redefined, a clinical comparison of mutation-positive and mutation-negat...
Abstract Background Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10–30 %...
