Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.

The objective of this study was to identify novel causal genes involved in the pathogenesis of Kashin-Beck disease (KBD). A representative grade III KBD sib pair with serious skeletal growth and development failure was subjected to exome sequencing using the Illumina Hiseq2000 platform. The detected gene mutations were then filtered against the data of 1000 Genome Project, dbSNP database, and BGI inhouse database, and replicated by a genome-wide association study (GWAS) of KBD.

Role of inflammation in the process of clinical Kashin-Beck disease: latest findings and interpretations.

Kashin-Beck disease (KBD), a particular type of osteoarthritis (OA), and an endemic disease with articular cartilage damage and chondrocytes apoptosis, can affect many joints, and the most commonly affected joints are the knee, ankle, and hand. KBD has traditionally been classified as a non-inflammatory OA. However, recent studies have shown that inflammation has played an important role in the development of KBD.

Selenium and Iodine Levels in Subjects with Kashin-Beck Disease: a Meta-analysis.

Kashin-Beck disease (KBD) is an endemic, degenerative osteoarthropathy, and particularly seen in China. A deficiency of selenium and iodine is implicated as the main etiological factor for KBD. This meta-analysis aimed to evaluate the differences in the selenium and iodine levels between patients with KBD and healthy individuals.

Is It the Appropriate Time to Stop Applying Selenium Enriched Salt in Kashin-Beck Disease Areas in China?

We aimed to identify significant factors of selenium (Se) nutrition of children in Kashin-Beck disease (KBD) endemic areas and non-KBD area in Shaanxi Province for providing evidence of whether it is the time to stop applying Se-enriched salt in KBD areas. A cross-sectional study contained 368 stratified randomly selected children aged 4-14 years was conducted with 24-h retrospective questionnaire based on a pre-investigation. Food and hair samples were collected and had Se contents determined with hydride generation atomic fluorescence spectrometry.

CCN2 and CCN5 exerts opposing effect on fibroblast proliferation and transdifferentiation induced by TGF-β.

Epidural fibrosis might occur after lumbar discectomy and contributes to failed back syndrome. Transforming growth factor (TGF)-β has been reported to influence multiple organ fibrosis, in which connective tissue growth factor/cysteine-rich 61/nephroblastoma overexpressed 2 (CCN2) and CCN5 are involved. However, the effect of CCN2 and CCN5 on TGF-β induced fibrosis has not yet been elucidated.

Salt-Rich Selenium for Prevention and Control Children with Kashin-Beck Disease: a Meta-analysis of Community-Based Trial.

Kashin-Beck disease (KBD) in western China is not well controlled. The objective of this study is to evaluate prevention and control children with KBD through a meta-analysis of a community-based trial. Web of knowledge, PubMed, Elsevier, the Chinese National Knowledge Infrastructure (CNKI), VIP and Wanfang data had been electronically searched up to February 2015.

SWGDT: A sliding window-based genotype dependence testing tool for genome-wide susceptibility gene scan.

Genome-wide association studies (GWAS) are a powerful tool for pathogenetic studies of complex diseases. The rich genetic information of GWAS data is mostly not fully utilized. In this study, we developed a sliding window-based genotype dependence testing tool SWGDT.

The Roles of the Interaction of BCL2-Antagonist/Killer 1, Apoptotic Peptidase Activating Factor 1 and Selenium in the Pathogenesis of Kashin-Beck Disease.

BCL2-antagonist/killer 1 (BAK1) and apoptotic peptidase activating factor 1 (APAF1) are significant genes in apoptosis signalling pathway of Kashin-Beck disease (KBD). We aimed to verify the protein expression levels of BAK1 and APAF1 in the cartilage and chondrocytes of patients with KBD. Additionally, we explored the relationship between the levels of these proteins and selenium concentration.

Effect of Selenium Deficiency on Phosphorylation of the AMPK Pathway in Rats.

Selenium is an important trace element for human health. Previous studies have raised concern that dietary selenium intake may change energy metabolism. AMP-activated protein kinase (AMPK) is a sensor of energy status that controls cellular energy homeostasis.

Gene expression signature in endemic osteoarthritis by microarray analysis.

Kashin-Beck Disease (KBD) is an endemic osteochondropathy with an unknown pathogenesis. Diagnosis of KBD is effective only in advanced cases, which eliminates the possibility of early treatment and leads to an inevitable exacerbation of symptoms. Therefore, we aim to identify an accurate blood-based gene signature for the detection of KBD.

Integrative meta-analysis of differentially expressed genes in osteoarthritis using microarray technology.

The aim of the present study was to identify differentially expressed (DE) genes in patients with osteoarthritis (OA), and biological processes associated with changes in gene expression that occur in this disease. Using the INMEX (integrative meta‑analysis of expression data) software tool, a meta‑analysis of publicly available microarray Gene Expression Omnibus (GEO) datasets of OA was performed. Gene ontology (GO) enrichment analysis was performed in order to detect enriched functional attributes based on gene‑associated GO terms.

Changing Grains for the Prevention and Treatment of Kashin-Beck Disease in Children: a Meta-analysis.

To evaluate the efficacy of changing grains on the prevention and treatment of Kashin-Beck Disease (KBD) in children, community-based trials were acquired from seven electronic databases (up to July 2014). As a result, the methodological quality of the six trials that have been included into our analysis was low. The pooled ORs favoring the prevention and treatment effects of changing grains were 0.

Panax notoginseng stimulates alkaline phosphatase activity, collagen synthesis, and mineralization in osteoblastic MC3T3-E1 cells.

Total Panax notoginseng saponin (PNS) has been extensively used to treat a variety of diseases, such as bone fractures, soft tissue injuries, etc. In this study, mouse calvaria-original osteoblastic MC3T3-E1 cells were cultured in various concentrations of PNS (0.005-5 mg/mL) during the period (1, 5, 14, and 23 d).

CCN5 attenuates profibrotic phenotypes of fibroblasts through the Smad6-CCN2 pathway: Potential role in epidural fibrosis.

Epidural fibrosis is characterized by the development of dense and thick scar tissue adjacent to the dural mater and ranked as the major contributor for post-operative pain recurrence after laminectomy or discectomy. Recently, CCN5 exhibited an inhibitory effect on connective tissue growth factor (CTGF)/CCN2 (a critical regulator for fibrotic disease)‑mediated fibrogenesis. However, its function in epidural fibrosis and the underlying mechanisms involved remain to be determined.

Identification of differentially expressed microRNAs involved in non-traumatic osteonecrosis through microRNA expression profiling.

Accumulating evidence has recently indicated a vital role of microRNAs (miRNAs) in the development of various bone diseases. However, the biological role of miRNAs in the pathogenesis of non-traumatic osteonecrosis of femoral head (ONFH) has not yet been investigated. The present study aimed to profile the differential miRNA expression between non-traumatic ONFH and femoral neck fracture and to develop further understanding of the molecular mechanisms involved in the pathogenesis of non-traumatic ONFH.

COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.

Objective: We sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD).

Methods: Twenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model.

Tumor-targeting and pH-sensitive lipoprotein-mimic nanocarrier for targeted intracellular delivery of paclitaxel.

In the present study, we constructed a tumor-targeting and pH-sensitive lipoprotein-mimic nanocarrier containing paclitaxel (FA-BSA-LC/DOPE-PTX), by adding 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine (DOPE) and oleic acid as pH-sensitive components into the formulation of lipid core and then coating with folic acid modified bovine serum albumin (FA-BSA) for tumor targeting activity. In vitro drug release study demonstrated that paclitaxel (PTX) was released from FA-BSA-LC/DOPE in a pH-dependent manner. The vitro cytotoxicity assays showed that all the blank nanocarriers were nontoxic.

The survey of birth defects rate based on birth registration system.

Background: To investigate the surveillance trend of birth defects, incidence, distribution, occurrence regularity, and their relevant factors in Xi'an City in the last 10 years for proposing control measures.

Methods: The birth defects monitoring data of infants during perinatal period (28 weeks of gestation to 7 days after birth) were collected from obstetrics departments of all hospitals during 2003-2012. Microsoft Excel 2003 was used for data input, and Statistical Package for the Social Sciences version 16.

CPAS: a trans-omics pathway analysis tool for jointly analyzing DNA copy number variations and mRNA expression profiles data.

Pathway-based analysis approaches provide additional insights into the pathogenesis of complex diseases. Copy number variations (CNVs) play an important role in gene expression regulation. Joint pathway analysis of CNVs and gene expression data should provide more useful information for revealing the molecular mechanism of complex diseases.

[Comparison of the expression profiles of cell death factors in articular cartilage between Kashin-Beck disease and osteoarthritis].

Objective: To compare the expressions of programmed cell death 5 (PDCD5) and early growth response protein-1 (EGR-1) in the articular cartilage between Kashin-Beck disease (KBD) and primary osteoarthritis and the roles of these factors in KBD cartilage.

Methods: Cartilage specimens were collected from 10 confirmed KBD patients, 15 osteoarthritic patients and 6 healthy subjects. The expression levels of PDCD5 and EGR-1 in the cartilage were detected by immunohistochemistry staining, and the positive chondrocyte counts were recorded in the different layers of KBD and OA cartilages.

Hyaluronic acid and glucosamine sulfate for adult Kashin-Beck disease: a cluster-randomized, placebo-controlled study.

To evaluate the efficacy and safety of hyaluronic acid (HA) and glucosamine sulfate (GS) in alleviating symptoms and improving function of Kashin-Beck disease (KBD). A cluster-randomized, placebo-controlled trial was conducted in 150 patients with KBD. Participants were randomly allocated to receive intra-articular injection hyaluronic acid (IAHA) for 4 weeks, oral GS for 12 weeks, or oral placebo for 12 weeks.

Trans-omics pathway analysis suggests that eQTLs contribute to chondrocyte apoptosis of Kashin-Beck disease through regulating apoptosis pathway expression.

Kashin-Beck disease (KBD) is a serious osteoarthropathia, mainly characterized by excessive chondrocyte necrosis and apoptosis. The molecular signaling pathways underlying KBD excessive chondrocyte apoptosis remain unclear, leading to a lack of effective medical interventions now. To clarify whether expression quantitative trait loci (eQTLs) contribute to excessive chondrocyte apoptosis of Kashin-Beck disease through regulating the expression of apoptosis pathways.

Genome-wide pathway-based association study implicates complement system in the development of Kashin-Beck disease in Han Chinese.

Kashin-Beck disease (KBD) is a chronic osteochondropathy. The pathogenesis of KBD remains unknown. To identify relevant biological pathways for KBD, we conducted a genome-wide pathway-based association study (GWPAS) following by replication analysis, totally using 2743 Chinese Han adults.

Genome-wide association study identifies ITPR2 as a susceptibility gene for Kashin-Beck disease in Han Chinese.

Objective: Kashin-Beck disease (KBD) is a chronic osteochondropathy, the pathogenesis of which remains elusive. The aim of this study was to identify susceptibility genes for KBD by conducting a 2-stage genome-wide association study (GWAS).

Methods: Ninety patients with grade II or grade III KBD with extreme KBD phenotypes and 1,627 healthy control subjects were enrolled in the initial GWAS.

Let-7b-5p regulates proliferation and apoptosis in multiple myeloma by targeting IGF1R.

Multiple myeloma (MM) is the most common cause of death from hematological malignancy worldwide, and recent studies have revealed that let-7b-5p can play an inhibitory role in tumorigenesis. However, the role of let-7b-5p in MM still remains unclear. The aim of this study was to elucidate the molecular mechanisms by which let-7b-5p acts as a tumor suppressor in MM.