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Article
Open AccessDerivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance
Gadolinium-enhanced cardiovascular magnetic resonance (CMR) is the most widely used approach for diagnosing myocardial fibrosis with late gadolinium enhancement (LGE) in cardiomyopathy associated with Duchenne...
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Article
Low doses of IFN-γ maintain self-renewal of leukemia stem cells in acute myeloid leukemia
Conventional therapies for acute myeloid leukemia (AML) often fail to eliminate the disease-initiating leukemia stem cell (LSC) population, leading to disease relapse. Interferon-γ (IFN-γ) is a known inflammat...
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Article
Open AccessThe metabolomic plasma profile of patients with Duchenne muscular dystrophy: providing new evidence for its pathogenesis
Duchenne muscular dystrophy (DMD) is a fatal genetic muscle-wasting disease that affects 1 in 5000 male births with no current cure. Despite great progress has been made in the research of DMD, its underlying ...
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Article
Open AccessA novel transcription factor SIPA1: identification and verification in triple-negative breast cancer
Transcription factors (TFs) regulate the expression of genes responsible for cell growth, differentiation, and responses to environmental factors. In this study, we demonstrated that signal-induced proliferati...
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Article
Control of SOX2 protein stability and tumorigenic activity by E3 ligase CHIP in esophageal cancer cells
SOX2 is highly expressed and controls tumor initiation and cancer stem cell function in various squamous cell carcinomas including esophageal squamous cancer. However, the molecular mechanism leading to SOX2 o...
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Article
GSK3β-driven SOX2 overexpression is a targetable vulnerability in esophageal squamous cell carcinoma
Esophageal squamous cell carcinoma (ESCC) is one of the deadliest forms of human malignancy that currently lacks approved targeted therapeutics. Accumulating evidence suggests that SOX2 overexpression is a key...
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Article
Open AccessClinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms
Preimplantation genetic testing (PGT) for monogenic disorders (PGT-M) for germline mosaicism was previously highly dependent on polymerase chain reaction (PCR)-based directed mutation detection combined with l...
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Article
The Role of Regulatory T Cells in Heart Repair After Myocardial Infarction
Myocardial infarction (MI) remains one of the leading causes of death worldwide. Inflammation and immune responses after MI are of significance to the adverse cardiac remodeling. Regulatory T cells (Tregs) pla...
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Article
Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes
To determine the application value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies (PGT-A).
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Article
Open AccessTumor-associated macrophages promote PD-L1 expression in tumor cells by regulating PKM2 nuclear translocation in pancreatic ductal adenocarcinoma
In many types of cancer, tumor cells prefer to use glycolysis as a major energy acquisition method. Here, we found that the 18fluoro-deoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT)-...
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Article
FOXF1 is required for the oncogenic properties of PAX3-FOXO1 in rhabdomyosarcoma
The PAX3-FOXO1 fusion protein is the key oncogenic driver in fusion positive rhabdomyosarcoma (FP-RMS), an aggressive soft tissue malignancy with a particularly poor prognosis. Identifying key downstream targe...
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Article
Oncogenic function of TRIM2 in pancreatic cancer by activating ROS-related NRF2/ITGB7/FAK axis
Evidence suggests that tripartite motif-containing 2 (TRIM2) is associated with carcinogenic effects in several malignancies. However, the expression patterns and roles of TRIM2 in pancreatic cancer are rarely...
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Article
Open AccessMendelian randomization analyses of genetically predicted circulating levels of cytokines with risk of breast cancer
To determine whether genetically predicted circulating levels of cytokines are associated with risk of overall breast cancer (BC), estrogen receptor (ER)-positive and ER-negative BC, we conducted two-sample MR...
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Article
Open AccessCharacterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases
The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).
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Article
Open AccessCdc37 suppression induces plasma cell immaturation and bortezomib resistance in multiple myeloma via Xbp1s
Multiple myeloma (MM) is the second most prevalent hematologic malignancy. Although the use of bortezomib (BTZ) significantly improves MM therapy, intrinsic and acquired drug resistance to BTZ remains a major ...
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Article
Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening
To evaluate the efficacy of preimplantation genetic testing (PGT) for α- and β-double thalassemia combined with aneuploidy screening using next-generation sequencing (NGS).
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Article
MCP-1/CCR-2 axis in adipocytes and cancer cell respectively facilitates ovarian cancer peritoneal metastasis
Ovarian cancer selective metastasizes to the omentum contributing to the poor prognosis associated with ovarian cancer. However, the mechanism underlining this propensity and therapeutic approaches to counter ...
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Article
C/EBPδ-Slug-Lox1 axis promotes metastasis of lung adenocarcinoma via oxLDL uptake
Cancer cells undergo significant lipid metabolic reprogramming to ensure sufficient energy supply for survival and progression. However, how cancer cells integrate lipid metabolic signaling with cancer progres...
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Article
Karyomap** in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary
To investigate the validity, accuracy, and clinical outcomes of Karyomap** in preimplantation genetic testing (PGT) for β-thalassemia combined with human leukocyte antigen (HLA) matching.
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Article
Open AccessClinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...