The aberrantly activated AURKB supports and complements the function of AURKA in CALR mutated cells through regulating the cell growth and differentiation.

Aurora kinase B (AURKB) was reported to assist Aurora kinase A (AURKA) to regulate cellular mitosis. AURKA has been found activated in myeloproliferative neoplasms (MPNs) patients with CALR gene mutation, however, it's unclear whether AURKB displays a compensatory function of AURKA in regulation of CALR mutant cell growth and differentiation. Here, we found that AURKB, similar with AURKA, was aberrantly activated in CALR mutant patients, and displayed a more tolerance to the aurora kinase inhibitor.

[Effects of Down-Regulation of on Differentiation and Apoptosis of MPN Cells with Gene Mutation and Survival of 6133/MPL Mice].

Objective: To investigate the effects of down-regulation of p21 activated kinase 1 (PAK1) on the proliferation, differentiation, and apoptosis of myeloproliferative neoplasm (MPN) cells (6133/MPL) with thrombopoietin receptor MPL mutation at codon 515 () and survival of 6133/MPL mice.

Methods: Interference with the protein level of in 6133/MPL cells was assessed using lentivirus-mediated shRNA transfection technology. CCK-8 assay was used to detect the effect of down-regulation of on the proliferation viability of 6133/MPL cells, and colony-forming ability was measured by cell counting.

Assessment of intestinal status in MPL mutant myeloproliferative neoplasms mice model.

The MPL mutation is a prevalent genetic mutation in patients with myeloproliferative neoplasms (MPN), and utilizing this mutation in mice model can provide important insights into the disease. However, the relationship between intestinal homeostasis and MPN mice model remains elusive. In this study, we utilized a retroviral vector to transfect hematopoietic stem cells with the MPL mutation, creating mutated MPN mice model to investigate their intestinal status.

Inhibition of PAK1 generates an ameliorative effect on MPLW515L mouse model of myeloproliferative neoplasms by regulating the differentiation and survival of megakaryocytes.

Most thrombopoietin receptor (MPL) mutations result in abnormal megakaryocyte expansion in the spleen or bone marrow (BM), leading to progressive fibrosis. It has been reported that p21 (Rac Family Small GTPase 1 [RAC1])-activated kinase 1 (PAK1) participates in the proliferation and differentiation of megakaryoblasts. PAK1 phosphorylation increased in patients with myeloproliferative neoplasms (MPNs) and murine MPN cells with the Mplw515l mutant gene in this study; however, the function of overactivated PAK1 in MPN cells remains unclear.

[Construction of a Mouse Model for Myeloproliferative Neoplasms and an Evaluation System].

Objective: To construct a myeloproliferative neoplasms (MPN) transplanted mouse model with or gene mutation, and establish a systematic evaluation system to verify the success of model construction.

Methods: The bone marrow c-kit cells of the mice were obtained by the following steps: The mice were killed by cervical dislocation, the femur, tibia and ilium were separated, and the bone marrow cells were collected. The c-kit cells were sorted after incubation with CD117 magnetic beads.

[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].

Objective: To detect pathogenic variants in a pedigree affected with propionic acidemia (PA).

Methods: The proband was subjected to high-throughput next-generation sequencing. Suspected variants were validated by Sanger sequencing of his family members.

[Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].

Objective: To explore the genetic etiology of a child suspected for β-ketothiolase deficiency by neonatal screening.

Methods: All coding exons and flanking sequences of the ACAT1 gene were subjected to targeted capture and high-throughput sequencing. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.

Long Noncoding RNA Knockdown Inhibits Proliferation, Migration, and Invasion and Promotes Apoptosis in Non-Small-Cell Lung Cancer Cells Through Regulating / Axis.

Long noncoding RNAs (lncRNAs) and mRNAs (messenger RNAs) have been reported to exert function in non-small-cell lung cancer (NSCLC), but how lncRNAs and mRNAs operate in the regulation of NSCLC is unclear. The purpose of this research was to elucidate the functional mechanism of lncRNA metastasis associated in lung adenocarcinoma transcript 1 () and tripartite-motif protein family member 65 () in NSCLC. Quantitative real-time polymerase chain reaction and western blot assay were employed to measure gene expression.

RFC3 induces epithelial‑mesenchymal transition in lung adenocarcinoma cells through the Wnt/β‑catenin pathway and possesses prognostic value in lung adenocarcinoma.

Lung cancer is a malignant tumor responsible for the highest mortality rate in humans. The identification of novel functional genes is of great importance in the treatment of lung cancer. The reported roles of replication factor C subunit 3 (RFC3) in tumorigenesis are contradictory.

Long non-coding RNA DLEU1 exerts an oncogenic function in non-small cell lung cancer.

Objective: To explore the role of long non-coding RNA DLEU1 in the tumorigenesis and progression of non-small cell lung cancer (NSCLC) and the underlying mechanisms.

Methods: The expression of DLEU1 in NSCLC tumor tissues and adjacent normal tissues was evaluated using bioinformatics analysis and qPCR. The effects of DLEU1 overexpression or deficiency on cell proliferation, apoptosis, migration and invasion were explored experimentally.

[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].

Objective: To explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).

Methods: Peripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing.

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].

Objective: To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).

Methods: Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.

Inhibition of ITCH Suppresses Proliferation and Induces Apoptosis of Lung Cancer Cells.

Background/aims: The E3 ubiquitin ligase ITCH plays an important role in invasive and metastatic cancers. However, the role of ITCH in the progression of lung cancer has not been fully described.

Methods: Real-time PCR was used to detect the expression of ITCH mRNA in the tumor tissues and paracarcinoma tissues from 32 patients with lung cancer.

[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing].

Objective: To explore the genetic cause for a child with developmental delay.

Methods: The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array).

Invasion of trophoblast cell lines is inhibited by miR-93 via MMP-2.

Preeclampsia (PE) is a serious pregnancy-related syndrome, which is characterized by gestational hypertension and proteinuria. The microRNA-93 (miR-93) is upregulated in the maternal plasma of patients with PE. However, the functional role of miR-93 in PE remains unknown.

Role of AXL expression in non-small cell lung cancer.

The present study aimed to investigate the expression profile of AXL in non-small cell lung cancer (NSCLC) and its clinical significance. The current study included 257 NSCLC patients, tyrosine-protein kinase receptor UFO (AXL) expression in paired lung cancer and adjacent normal lung tissues of NSCLC patients were compared by immunohistochemistry, western blot analysis and quantitative polymerase chain reaction (qPCR). These methods were used to detect the expression of the AXL gene and protein in fresh tissues from 35 patients.

Clinical significance of Wip1 overexpression and its association with the p38MAPK/p53/p16 pathway in NSCLC.

Wip1 is deregulated in numerous human malignancies. However, its roles in non‑small cell lung cancer (NSCLC) remain unclear. In the current study, the expression of Wip1 was investigated in NSCLC and its clinical significance was detected.

Insights into the roles of hnRNP A2/B1 and AXL in non-small cell lung cancer.

Lung cancer has long been one of the most serious types of malignant tumor, and is associated with high incidence and mortality rates. Despite advancements in the comprehensive treatment of the disease, particularly with targeted therapeutic agents, there has been little improvement in the 5-year survival rates of patients. One of the leading causes of mortality in lung cancer is the lack of effective early diagnostic criteria.

PIWIL2 promotes progression of non-small cell lung cancer by inducing CDK2 and Cyclin A expression.

Background: PIWI proteins have important roles in tumorigenesis due to their interaction with piRNAs. Recent studies suggest that PIWI proteins affect prognosis of various cancers.

Methods: In the present study, PIWI genes expression was assayed in non-small cell lung cancer (NSCLC).

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Objective: To investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype.

Method: Eleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years.

Thymic carcinoma patients with myasthenia gravis exhibit better prognoses.

Background: Thymic carcinoma is an aggressive mediastinal neoplasm with a poor prognosis, but the factors that contribute to its prognosis are not completely understood. Myasthenia gravis (MG) can coexist with thymic carcinoma with low incidence, but the effect MG has on thymic carcinoma prognosis is unknown. Here, we investigated the prognostic factors of thymic carcinoma and the influence of MG on patients with this disease.

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Objective: To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing.

Methods: For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing.

Detection of human norovirus in cherry tomatoes, blueberries and vegetable salad by using a receptor-binding capture and magnetic sequestration (RBCMS) method.

In this study, we developed a sensitive receptor-binding capture and magnetic sequestration (RBCMS) method capable of concentrating human norovirus (HuNoV) from various food samples within few hours. We found that distilled water was suitable for the elution of HuNoV from inoculated tomatoes and blueberries, and glycine buffer improved the elution of HuNoV from inoculated salad. A significant improvement in post-extraction RNA yield was achieved by sequentially heat-releasing and column-extracting over either technique alone.

Poland syndrome associated with ipsilateral lipoma and dextrocardia.

A 22-year-old man was admitted with a rapidly enlarging soft mass on the left chest wall, which was diagnosed as lipoma by postoperative pathology. A chest roentgenogram revealed a defect of the fourth rib, scoliosis, dextrocardia, and diaphragmatic hernia. A computed tomographic scan showed maldevelopment of the pectoralis major and minor muscles.