5 results match your criteria: "China. tianyp@301hospital.com.cn.[Affiliation]"
Novel PATL2 variants cause female infertility with oocyte maturation defect.
J Assist Reprod Genet
August 2024
Birth Defects Prevention and Control Technology Research Center, Medical Innovation Research Division of Chinese, PLA General Hospital, Beijing, 100853, China.
Purpose: Oocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes. Compound heterozygous or homozygous PATL2 mutations have been associated with oocyte arrest at the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) stages, as well as morphological changes.
Methods: In this study, we recruited three OOMD cases and conducted a comprehensive multiplatform laboratory investigation.
Genome-wide methylation profiling of early colorectal cancer using an Illumina Infinium Methylation EPIC BeadChip.
World J Gastrointest Oncol
April 2022
Medical Innovation Research Division, Chinese PLA General Hospital, Beijing 100853, China.
Article Synopsis
- - DNA methylation plays a crucial role in the development of colorectal cancer (CRC) and analyzing specific methylated genes could provide valuable diagnostic insights.
- - Researchers utilized the Illumina Infinium Human Methylation 850K BeadChip to study genome-wide methylation patterns in early CRC and adenoma patients, revealing significant differences in 1865 methylated CpG sites.
- - The identified methylated sites were distributed across all chromosomes and were linked to important biological functions through enrichment analyses, indicating their potential as biomarkers in CRC detection.
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
Orphanet J Rare Dis
August 2020
Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Background: Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients, its correlation with phenotype has not been delineated.
View Article and Find Full Text PDFThe predictive value of selected serum microRNAs for acute GVHD by TaqMan MicroRNA arrays.
Ann Hematol
October 2016
Core Laboratory of Translational Medicine, State Key Laboratory of Kidney Disease, Chinese PLA General Hospital, 28 Fu-Xing Road, Beijing, 100853, China.
Currently, the diagnosis of acute graft-versus-host disease (aGVHD) is mainly based on clinical symptoms and biopsy results. This study was designed to further explore new no noninvasive biomarkers for aGVHD prediction/diagnosis. We profiled miRNAs in serum pools from patients with aGVHD (grades II-IV) (n = 9) and non-aGVHD controls (n = 9) by real-time qPCR-based TaqMan MicroRNA arrays.
View Article and Find Full Text PDFBackground: Extensive research has been conducted regarding the mechanism of action of glyceryl trinitrate (GTN). It is currently believed that GTN undergoes a thiol-dependent metabolic pathway and releases its active metabolite, nitric oxide (NO) and/or S-nitrosothiols (R-SNO). This activates guanylyl cyclase (GC) leading to the formation of cGMP, which is responsible for the relaxation of vascular smooth muscles and the inhibition of platelet aggregation.
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