Publications by authors named "Yingchuan Zhu"
Article Synopsis
- - Pompe disease is a serious genetic disorder that leads to heart issues, muscle weakness, and breathing problems; this study seeks to find new markers related to the infantile form of the disease by studying gene expression and immune cell presence in affected muscles.
- - Researchers analyzed gene expression data from two datasets and used machine learning techniques like SVM-RFE and LASSO to identify potential biomarkers, discovering key genes GPNMB, CALML6, and TRIM7 that correlate with immune cells involved in the disease.
- - While the study identified important connections between these genes and immune cell activity, previous research has indicated a lack of substantial immune cell presence in muscle biopsies from Pompe patients, suggesting a need for more laboratory experiments to confirm these
Pyruvate kinase M2 (PKM2), a subtype of pyruvate kinase, plays a crucial role as a key enzyme in the final step of glycolysis. It is involved in regulating the tumor microenvironment and accelerating tumor progression. However, the relationship between PKM2 expression and the prognosis and immune infiltration remains unclear in lung cancer.
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- - The COMP gene encodes a protein crucial for cartilage formation, and mutations in this gene can lead to pseudoachondroplasia (PSACH), a condition characterized by short stature and limb dwarfism.
- - Researchers studied a specific pathogenic variant (c.875G > A, p.Cys292Tyr) in the COMP gene using various methods such as 3D structural analysis and immunofluorescence to understand its effects on protein behavior.
- - The findings revealed that the variant causes changes in protein structure, leading to excessive accumulation of the mutant protein in the cell's cytoplasm, which is associated with the PSACH condition in a Chinese family.
Herein we report the first total synthesis of the indole diterpenoid natural product shearilicine by an 11-step sequence via a generalizable precursor to the highly oxidized subclass of indole diterpenoids. A native chiral auxiliary strategy was employed to access the target molecule in an enantiospecific fashion. The formation of the key carbazole substructure was achieved through a mild intramolecular Heck cyclization, wherein a computational study revealed noncovalent substrate-ligand and ligand-ligand interactions that promoted migratory insertion.
View Article and Find Full Text PDFBackground: NPHS2 is the causative gene of nephrotic syndrome type 2 (MIM 600995) which often clinically manifests as steroid-resistant nephrotic syndrome (SRNS). The NPHS2 gene encodes a slit diaphragm (SD) associated protein podocin.
Objective: This study reported a novel disease-causing mutation of NPHS2 in a Chinese family with SRNS.
Background: Cone dystrophy with supernormal rod response (CDSRR) is an autosomal recessive retinal disorder characterized by myopia, dyschromatopsia, nyctalopia, photophobia, and nystagmus. CDSRR is caused by mutations in KCNV2, the gene encoding for an electrically silent Kv subunit (Kvs) named Kv8.2.
View Article and Find Full Text PDFBackground: Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no effective treatment, which underscores the importance of avoiding the birth of children with DMD by identifying pathogenic mutations and obtaining an accurate prenatal diagnosis.
Objective: The objective of this study was to analyze the genetic defect of a Chinese family where all male patients have died of DMD.
Methods: Multiplex ligation dependent probe analysis (MLPA) and next-generation sequencing (NGS) were employed to detect DMD mutations.
PIWIL2 stabilizes β-catenin to promote cell cycle and proliferation in tumor cells.
Biochem Biophys Res Commun
August 2019
PIWIL2 belongs to the PIWI protein subfamily and is widely expressed in a variety of tumors. Previous studies have shown that PIWIL2 has the characteristics of oncogene. Recently we reported that PIWIL2 suppresses GSK3β activity to regulate circadian rhythms through SRC-PI3K-AKT pathway.
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- Circadian rhythms are regulated by clock proteins and their modifications, but the role of circadian genes in cancer cells is not well understood.
- PIWIL1 has been identified as a factor in cancer development and has now been shown to suppress circadian rhythms in cancer cells.
- Through interactions with SRC and activation of the PI3K-AKT signaling pathway, PIWIL1 inhibits key clock proteins CLOCK and BMAL1, highlighting its role in linking circadian rhythm disruption to tumorigenesis.
An alternative protocol for the B-alkyl Suzuki-Miyaura reaction to produce cyclic α,β-disubstituted enones is reported. The use of β-triflyl enones as coupling partners in lieu of their halogenated analogs provides enhanced substrate stability to light and chromatography without adversely affecting reactivity. This protocol allows efficient access to the synthetically challenging α,β-disubstituted enone motif under mild conditions.
View Article and Find Full Text PDFBackground: Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis.
Objective: To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations.