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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... -
Inhibition of NAMPT aggravates high fat diet-induced hepatic steatosis in mic...
Abstract Background Nonalcoholic fatty liver disease is one of the most common liver diseases in the world and is a typical hepatic manifestation of metabolic syndrome which is... -
Examining the role of unmeasured confounding in mediation analysis with genet...
Abstract Background In mediation analysis if unmeasured confounding is present, the estimates for the direct and mediated effects may be over or under estimated. Most methods... -
Involvement of DPP9 in gene fusions in serous ovarian carcinoma
Abstract Background A fusion gene is a hybrid gene consisting of parts from two previously independent genes. Chromosomal rearrangements leading to gene breakage are frequent in... -
Genetic diversity of Taenia saginata (Cestoda: Cyclophyllidea) from Lao Peopl...
Abstract Background Taenia saginata is a tapeworm found in cattle worldwide. Analysis of genetic diversity in different geographical populations of T. saginata not only helps to... -
Association of lipocalin-2 level, glycemic status and obesity in type 2 diabe...
Abstract Background Management of type 2 diabetes mellitus aims to maintain a normal glycemic status, which if not, it may lead to acute and/or chronic diabetic complications.... -
Reduction in clinically important deterioration in chronic obstructive pulmon...
Abstract Background ‘Clinically important deterioration’ (CID) is a composite endpoint measuring worsening of the key clinical features of chronic obstructive pulmonary disease... -
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... -
A novel method for the quantification of fatty infiltration in skeletal muscle
Abstract Background Fatty infiltration of the skeletal muscle is a common but poorly understood feature of many myopathies. It is best described in human muscle, where... -
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... -
Not only dominant, not only optic atrophy: expanding the clinical spectrum as...
Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases... -
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé ...
Abstract Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and... -
The most commonly used disease severity scores are inappropriate for risk str...
Abstract Background Sepsis recognition in older emergency department (ED) patients is difficult due to atypical symptom presentation. We therefore investigated whether the... -
Prophages and adaptation of Staphylococcus aureus ST398 to the human clinic
Abstract Background It has been suggested that prophages in the ST398 S. aureus clone are responsible for expanding ST398's spectrum of action and increasing its ability to... -
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... -
Impaired human immunodeficiency virus type 1 replicative fitness in atypical ...
Abstract Background Progression rates from initial HIV-1 infection to advanced AIDS vary significantly among infected individuals. A distinct subgroup of HIV-1-infected... -
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... -
A fixed inhaled nitrous oxide/oxygen mixture as an analgesic for adult cancer...
Abstract Background The management of breakthrough pain in cancer patients is always a challenge for medical professions. Occurring in 80% of cancer patients with advanced... -
Low serum vitamin D levels in type 2 diabetes patients are associated with de...
Abstract Background Concurrent diabetes mellitus and tuberculosis represent a significant health problem worldwide. Patients with diabetes mellitus have a high risk of... -
Genetic evaluation of the effect of GLCCI1 rs37973 on corticosteroid response...
Abstract Background The efficacy of inhaled corticosteroids (ICS) for chronic obstructive pulmonary disease (COPD) varies between patients, which may be partially due to genetic...
