Publications by authors named "Xiaomin Niu"

Article Synopsis
  • FGFR is a vital receptor involved in growth and tissue repair, but its gene mutations can lead to cancer by disrupting essential processes.
  • Small molecule drugs and antibodies targeting FGFR mutations, like erdafitinib and pemigatinib, have shown clinical efficacy in treating certain cancer types.
  • Effective screening methods for FGFR variants are essential for utilizing FGFR inhibitors in treatment, and a consensus has been developed to standardize diagnosis and treatment processes.
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  • * BRAF mutations are common in various cancers, and targeted therapies, especially BRAF inhibitors like dabrafenib and trametinib, are developed for treating solid tumors with these mutations.
  • * An expert consensus has been established to improve the diagnosis and treatment of solid tumors with BRAF mutations, focusing on summarizing their clinical features, recommending genetic testing methods, and creating a systematic approach for patient care.
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Background: Histone acetylation plays a critical role in the progression of acute myeloid leukemia (AML). This study aimed to explore the prognostic significance and biological implications of histone acetylation-related genes in AML and to identify potential oncoproteins and therapeutic compounds.

Methods: Genes associated with AML and histone acetylation were identified using the TCGA-LAML and IMEx Interactome databases.

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With the revolutionary progress of immune checkpoint inhibitors (ICIs) in non-small cell lung cancer, identifying patients with cancer who would benefit from ICIs has become critical and urgent. Here, we report protein tyrosine phosphatase receptor type T (PTPRT) loss as a precise and convenient predictive marker independent of PD-L1 expression for anti-PD-1/PD-L1 axis therapy. Anti-PD-1/PD-L1 axis treatment markedly increased progression-free survival in patients with PTPRT-deficient tumors.

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  • * Results indicate a surge in publications, especially in the last five years, with the United States and major institutions like Brigham and Women's Hospital leading the research efforts.
  • * The research highlights increased interdisciplinary and international collaboration, emphasizing advancements in genetic analyses and machine learning, while also noting geographical disparities in research output.
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  • Goldenhar syndrome is a rare malformation caused by problems in the first two pharyngeal arches, with unclear genetic and environmental influences.* -
  • Researchers analyzed a family with Goldenhar syndrome using whole-exome sequencing, identifying FBLN2 as a potential gene involved in the condition.* -
  • Studies on zebrafish lacking FBLN2 showed abnormal craniofacial development, suggesting FBLN2 affects cartilage growth and bone signaling, which could lead to new treatment options for related conditions.*
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Ferroptosis is a recently identified form of programmed cell death that is iron-dependent and closely involved in the pathogenesis of breast cancer. Past studies have identified myricetin as being able to inhibit breast cancer growth through its targeting of apoptotic mechanisms, but the precise mechanisms whereby it exerts its antitumoral effects in breast cancer remain to be characterized in detail. Here, the effects of myricetin on the induction of ferroptosis in breast cancer cells were investigated.

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In order to reduce the cardiotoxicity of doxorubicin (DOX) and improve its antitumor effect, dihydroartemisinin (DHA) and DOX prodrug (DOX-S-DHA) synthesized via a single sulfur bond was used with TEPP-46 to prepare nano-liposomes (DOX-S-DHA@TEPP-46 Lips). In which, TEPP-46 was expected to exert p53 bidirectional regulation to promote the synergistic antitumor effect of DOX and DHA while reducing cardiotoxicity. DOX-S-DHA@TEPP-46 Lips exhibited uniform particle size, good stability, and excellent redox-responsive activity.

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Objective: To investigate the effect of rehabilitation therapy on the global function, respiratory function, and quality of life in patients with amyotrophic lateral sclerosis (ALS).

Methods: PubMed, Web of Science, and The National Library of Medicine (NLM) were systematically searched and the search period was between the date of database establishment and December 31, 2023. The outcome measures finally analyzed included the ALS functional rating scale/revised (ALSFRS/ALSFRS-R), forced vital capacity percentage predicted (FVC%), fatigue severity scale (FSS), and maximal expiratory pressure (MEP).

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Background: The Tibetan area is one of China's minority regions with a shortage of general practice personnel, which requires further training and staffing. This research helps to understand the current condition and demand for general practitioner (GP) training in Tibetan areas and to provide a reference for promoting GP education and training.

Methods: We conducted a cross-sectional survey using stratified sampling targeting 854 GPs in seven cities within the Tibetan Autonomous Region, utilizing an online questionnaire.

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  • Fusion genes from the epidermal growth factor (EGF) receptor family are significant players in cancer development, especially in lung cancer, where gene fusion incidence is 0.19 to 0.27%.
  • Common partners for these fusions are CD74 and SLC3A2, and detection methods include RNA-based next-generation sequencing and pERBB3 immunohistochemistry for quick screening.
  • Currently, there are no approved specific drugs for these fusions, but treatment options like pan-ERBB inhibitors and monoclonal antibodies are being explored, with clinical trials aiming to improve outcomes for patients with solid tumors containing these gene fusions.
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  • Immunotherapy helps treat people with a type of lung cancer called non-small-cell lung cancer (NSCLC), but doctors are exploring combining it with chemotherapy to improve results.
  • Researchers created a special computer model to study how a mix of three drugs works together for treating this cancer, which helps predict how well patients will respond to treatment.
  • The model also found that certain types of immune cells in tumors can show how likely patients are to benefit from this combination therapy, making it easier for doctors to create personalized treatment plans.
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  • Combination therapy using platinum-based chemotherapy and PD-L1 inhibitors significantly improves survival rates for small-cell lung cancer (SCLC) patients compared to single anti-PD-L1 therapy.
  • A positive correlation was found between the expression of a protein called Gasdermin E (GSDME) and patient survival, with high GSDME levels making SCLC cells more sensitive to treatment.
  • Cisplatin activates GSDME, leading to the release of immune-boosting cytokines that enhance the effectiveness of anti-PD-L1 therapy, suggesting that GSDME could be a key biomarker and target for improving patient responses to treatment.
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Brain metastases signify a deleterious milestone in the progression of several advanced cancers, predominantly originating from lung, breast and melanoma malignancies, with a median survival timeframe nearing six months. Existing therapeutic regimens yield suboptimal outcomes; however, burgeoning insights into the tumor microenvironment, particularly the immunosuppressive milieu engendered by tumor-brain interplay, posit immunotherapy as a promising avenue for ameliorating brain metastases. In this review, we meticulously delineate the research advancements concerning the microenvironment of brain metastases, striving to elucidate the panorama of their onset and evolution.

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  • Genetic load encompasses harmful mutations that can affect populations negatively, and this study focuses on how transposable element (TE) insertion contributes to this load during the range expansion of Arabidopsis thaliana.
  • The research analyzed 1,115 global natural accessions and found that TE load increases with geographic expansion, particularly in the Yangtze River basin population, with effective population size playing a significant role.
  • By mapping candidate genes and TEs, the study sheds light on the genetic factors driving TE load variation, emphasizing insights from both population genetics and quantitative genetics.
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  • The RET gene is a receptor tyrosine kinase involved in cell growth and differentiation; its fusion is a rare but poor-prognosis alteration in non-small cell lung cancer (NSCLC).
  • Two selective inhibitors, pralsetinib and selpercatinib, have been approved for treating RET fusion NSCLC, showing effectiveness against resistance to other treatments.
  • Effective patient screening for RET fusion is vital, utilizing methods like NGS, RT-PCR, FISH, and IHC, with the goal of standardizing approaches to improve diagnosis and therapy outcomes.
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Malignant pleural mesothelioma (MPM) is a malignant tumor originating from the pleura, and its incidence has been increasing in recent years. Due to the insidious onset and strong local invasiveness of MPM, most patients are diagnosed in the late stage and early screening and treatment for high-risk populations are crucial. The treatment of MPM mainly includes surgery, chemotherapy, and radiotherapy.

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Hemifacial microsomia (HFM), a rare disorder of first- and second-pharyngeal arch development, has been linked to a point mutation in (von Willebrand factor A domain containing 1), encoding the protein WARP in a five-generation pedigree. However, how the mutation relates to the pathogenesis of HFM is largely unknown. Here, we sought to elucidate the effects of the mutation at the molecular level by generating a -knockout zebrafish line using CRISPR/Cas9.

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Thymic epithelial tumors (TETs) are a relatively rare type of thoracic tumor, accounting for less than 1% of all tumors. The incidence of TETs is about 3.93/10000 in China, slightly higher than that of European and American countries.

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Fetal growth restriction (FGR) is one of the most common obstetric diseases, and affects approximately 10 % of all pregnancies worldwide. Maternal cadmium (Cd) exposure is one of the factors that may increase the risk of the development of FGR. However, its underlying mechanisms remain largely unknown.

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Diffuse hemangiomatosis of the liver and spleen is rare. Currently, few studies are available on diffuse hepatic and splenic hemangiomatosis accompanied by Kasabach-Merritt syndrome (KMS). The conserved telomere maintenance component 1 () gene contributes to telomere maintenance and replication by forming the telomeric capping complex.

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Dissection of exhaustion trajectories of immune cells under tumor selection pressure in the tumor microenvironment (TME) elucidates the underlying machinery in anti-tumor immunity, which still lacks easy-to-use models to decipher. Herein, gelatin methacryloyl (GelMA)-poly (ethylene oxide) (PEO) based 3D hydrogel microspheroids are constructed with non-immunogenicity and controllable macroporous structure to establish a tumor-immune cell coculture (3D-HyGTIC) system. In 3D-HyGTIC system, when immune cells embarked, stepwise up-regulation of main immune checkpoints (ICs) molecules is observed with compromised cytokine production in CD8 T cells, the trajectory of which is in lineage correlation with in vivo grafted tumors.

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Article Synopsis
  • Non-classical mutations in non-small cell lung cancer (NSCLC) lead to varied and reduced responses to EGFR tyrosine kinase inhibitors (TKIs), leaving patients with atypical mutations with few treatment options.
  • A study classified these mutations into four categories—classical-like, T790M-like, PACC, and Ex20ins-L—to better predict their response to TKI treatment using data from 837 tumor samples from Chinese NSCLC patients.
  • The findings indicated that patients with PACC mutations benefited more from second-generation TKIs compared to first-generation TKIs, highlighting the potential for structural classification to inform effective treatment choices.
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Human epidermal growth factor receptor 2 (HER2) possesses tyrosine kinase activity and participates in cell growth, differentiation and migration, and survival. Its alterations, mainly including mutations, amplifications, and overexpression are associated with poor prognosis and are one of the major drivers in non-small cell lung cancer (NSCLC). Several clinical trials had been investigating on the treatments of HER2-altered NSCLC, including conventional chemotherapy, programmed death 1 (PD-1) inhibitors, tyrosine kinase inhibitors (TKIs) and antibody-drug conjugates (ADCs), however, the results were either disappointing or encouraging, but inconsistent.

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Background: The emergence of immune checkpoint inhibitors (ICIs) is one of the most promising breakthroughs for the treatment of multiple cancer types, but responses vary. Growing evidence points to a link between developmental signaling pathway-related genes and antitumor immunity, but the association between the genomic alterations in these genes and the response to ICIs still needs to be elucidated.

Methods: Clinical data and sequencing data from published studies and our cohort were collected to analyze the association of the mutation status of with the efficacy of ICI therapy in the non-small cell lung cancer (NSCLC) cohort and the pan-cancer cohort.

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