Key Clinical Message We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C ...
Meiyu Zhang +7 more
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Pulmonary fibrosis (PF) is the pathological structure of incurable fibroproliferative lung diseases that are attributed to the repeated lung injury-caused failure of lung alveolar regeneration (LAR). Here, we report that repetitive lung damage results in
Xiaoxi Lv +16 more
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EZH2, HIF-1, and their inhibitors: An overview on pediatric cancers [PDF]
During the past decades, several discoveries have established the role of epigenetic modifications and cellularmicroenvironment in tumor growth and progression. One of the main representatives concerning epigenetic modification is the polycomb group (PcG)
Antonello Mai +6 more
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Nephron-Specific Deletion of Circadian Clock Gene Bmal1 Alters the Plasma and Renal Metabolome and Impairs Drug Disposition. [PDF]
The circadian clock controls a wide variety of metabolic and homeostatic processes in a number of tissues, including the kidney. However, the role of the renal circadian clocks remains largely unknown.
Bollinger +13 more
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TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways in hepatocellular carcinoma [PDF]
This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular carcinoma (HCC) by comparing the global gene expression profiles between tumors and their corresponding nontumorous liver tissue. Based on the differential
Ho, DWH, Kai, AKL, Ng, IOL
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MicroRNA410 Inhibits Pulmonary Vascular Remodeling via Regulation of Nicotinamide Phosphoribosyltransferase [PDF]
Nicotinamide phosphoribosyltransferase (NAMPT) upregulation in human pulmonary artery endothelial cells (hPAECs) is associated with pulmonary arterial hypertension (PAH) progression and pulmonary vascular remodeling.
Chen, Jiwang +7 more
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A Systemic Receptor Network Triggered by Human cytomegalovirus Entry [PDF]
Virus entry is a multistep process that triggers a variety of cellular pathways interconnecting into a complex network, yet the molecular complexity of this network remains largely unsolved.
Li, Hong, Ren, Li, Wang, Anyou
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Extracellular phosphate enhances the function of F508del-CFTR rescued by CFTR correctors [PDF]
Background: The clinical response to cystic fibrosis transmembrane conductance regulator (CFTR) modulators varies between people with cystic fibrosis (CF) of the same genotype, in part through the action of solute carriers encoded by modifier genes. Here,
Delpiano, Livia +5 more
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CD24 Expression and differential resistance to chemotherapy in triple-negative breast cancer. [PDF]
Breast cancer (BC) is a leading cause of cancer-related death in women. Adjuvant systemic chemotherapies are effective in reducing risks of recurrence and have contributed to reduced BC mortality.
Apple, Sophia +9 more
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Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy
Pulmonary alveolar microlithiasis is rare disease characterized by accumulation of calcium phosphate microlithis in the alveoli. The pathogenesis relates to mutation in the gene SLC34A2 (solute carrier family 34 member 2) located on chromosome 4p15.2 ...
Emad Alkhankan, MD +5 more
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