A5036590151- Cancer-related Molecular Pathways
- Cancer-related gene regulation
- Connective tissue disorders research
- Epigenetics and DNA Methylation
- Wnt/β-catenin signaling in development and cancer
- RNA Research and Splicing
- TGF-β signaling in diseases
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- RNA regulation and disease
- Glycosylation and Glycoproteins Research
- Prenatal Screening and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Kruppel-like factors research
- Congenital limb and hand anomalies
- Proteoglycans and glycosaminoglycans research
- Pregnancy and preeclampsia studies
- Parathyroid Disorders and Treatments
- Skin and Cellular Biology Research
- Genetic and rare skin diseases.
- Cell Adhesion Molecules Research
- Fibroblast Growth Factor Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Reproductive Biology and Fertility
Power Grid Corporation (India)
2024
Southern Medical University
2023
Renji Hospital
2023
China Medical University
2013-2022
Youjiang Medical College for Nationalities
2015
Ministry of Education of the People's Republic of China
2011-2014
Genomics (United Kingdom)
2012
First Hospital of China Medical University
2011
Nara Medical University
2009
Nanfang Hospital
2001
Abstract Background MicroRNAs (miRNAs) are involved in cancer development and progression, acting as tumor suppressors or oncogenes. Our previous studies have revealed that miR-148a miR-152 significantly down-regulated gastrointestinal cancers. Interestingly, miR-148b has the same "seed sequences" miR-152. Although aberrant expression of been observed several types cancer, its pathophysiologic role relevance to tumorigenesis still largely unknown. The purpose this study was elucidate...
Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing inheritance, morphology severity. Loci for autosomal dominant posterior polar CC total have both been mapped chromosomal 1p36 region harboring EPHA2 receptor tyrosine kinase gene. Here, we report mutations of three families from different ancestral groups. In a Chinese family with CC, identified missense mutation, c.2819C>T (p.T940I), replacing critical amino acid...
Abstract Although Poly C Binding Protein 1 (PCBP1) affects cellular ferroptosis and mitochondrial dysfunction, the mechanisms by which PCBP1 regulates bladder cancer (BC) cell functions are unknown. In this study, two BC lines (T24 UMUC3) were treated with different doses of inducer erastin to analyze effect PCBP1. Online databases (RPISeq CatRAPID) used predict possible direct interaction between protein serine β‐lactamase‐like (LACTB) mRNA, was further validated via RNA pull‐down,...
Abstract Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects approximately 1% women under 40 years age. Recent advances emphasize the genetic heterogeneity POI. Fanconi anemia (FA) genes, traditionally known for their essential roles in DNA repair cytogenetic instability, have been demonstrated to be involved meiosis germ cell development. Here, we conducted whole-exome sequencing (WES) 50 Han Chinese patients with Rare missense variants were...
Pediatric cataract is a clinically and genetically heterogeneous disease which significant cause of lifelong visual impairment treatable blindness. Our study aims to investigate the genotype spectrum in group Chinese patients with pediatric cataract. We enrolled 39 families from October 2015 April 2016. DNA samples probands were analyzed by target next-generation sequencing. Variants validated using Sanger sequencing available family members. In our cohort cases different types cataract, 23...
Gastric cancer is one of the most common malignant tumors. Cyclin G2 has been shown to be associated with development multiple types tumors, but its underlying mechanisms in gastric tumors not well-understood. The aim this study investigate role and cyclin on Wnt/β-catenin signaling cancer. Real-time PCR, immunohistochemistry silico assay were used determine expression TCGA datasets evaluate association between prognostic landscape cancers. effects ectopic endogenous proliferation migration...
Background Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes double‐stranded RNA‐specific adenosine deaminase. We previously reported two novel ADAR (p.Q513X and p.R916W) confirmed role of Chinese patients DSH. Both haploinsufficiency dominant‐negative effect have been suggested as potential mechanism by which cause Objectives To identify additional DSH families to obtain insight into...
Background Colorectal signet ring cell carcinoma (SRCC) is a rare and poorly prognosed tumor with limited established prognostic indicators. This study aims to investigate the value of serum carcinoembryonic antigen (CEA) in patients colorectal SRCC. Methods A retrospective, multicenter was conducted assess association between CEA levels survival outcomes 942 Results Patients exhibiting preoperative (preCEA)-positivity demonstrated significantly lower cancer-specific (CSS) compared those...
Abstract Porokeratosis comprises heterogeneous keratinization disorders that are characterized by one or more atrophic patches surrounded a ridge‐like cornoid lamella. In this study, we evaluated seven families affected porokeratosis and five sporadic patients of the disease in Chinese population. We performed Sanger sequencing exons flanking intron–exon boundaries mevalonate pathway genes ( MVD , MVK PMVK FDPS ) SLC 17A9 . familial three patients, detected six variations, including four...
Cyclin G2 has been identified as a tumour suppressor in several cancers.However, its regulatory roles and underlying mechanisms tumours are still unknown.In this study, we demonstrated that cyclin was expressed at low levels glioma, which poor prognostic factor for disease.We also found that, could suppress cell proliferation, initiate apoptosis reduce aerobic glycolysis, suggesting plays suppressive role glioma.Mechanistically, negatively regulate tyrosine-10 phosphorylation of critical...
Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified array-based comparative hybridization (aCGH), most commonly used technology for molecular diagnostics of disorders. However, aCGH only informs in probe-interrogated regions. Neither orientational information nor resulting rearrangement structure is provided, which a key to uncovering mutational and pathogenic mechanisms underlying...
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purpose this study was to investigate potential in ADAR1 seven Chinese families DSH. All coding exons including adjacent intronic as well 5′ and 3′ untranslated region (UTR) were screened by direct sequencing. Moreover, quantitative reverse-transcription polymerase chain (qRT-PCR)...
N6-Methyladenosine (m6A) RNA methylation is the most universal mRNA modification in eukaryotic cells. M6A affects almost every phases of processing, including splicing, decay, export, translation and expression. Several patents have reported application m6A cancer diagnosis treatment. Ovarian leading cause death among all gynecological cancers. It urgent to identify new biomarkers for early prognosis ovarian cancer.In current study, we aimed evaluate regulators related genes establish a gene...
Abstract Background and Objectives The molecular genetic alterations leading to gastric malignancy are largely unknown. This study aimed unravel the genomic DNA copy number aberrations (CNAs) profile during tumorigenesis. Methods In this study, we performed profiling in a set of 50 intestinal type carcinomas by PCR‐based relative quantification method, multiple ligation‐dependent probe amplification (MLPA) with 112 cancer‐related gene loci selected throughout each human chromosome as probes...
High-mobility group box 1 (HMGB1) is a nuclear protein that acts as ligand of the receptor for advanced glycation end products (RAGE) and its expression enhances progression cancer. However, mechanism underlying HMGB1 secretion still unclear. In this study, we examined effect deoxycholic acid (DCA), promoter colon carcinogenesis, on secretion.We used an in vitro transformation model comprised IEC6 intestinal epithelial cells treated with azoxymethane (AOM) and/or DCA. were by Western...
Purpose: To investigate the association of CD44+/CD24− cancer stem cell (CSC) ratio with clinicopathologic features and its prognostic value in breast cancer. Materials Methods: The CSC was determined formalin-fixed, paraffin-embedded tissues from 1350 patients by double immunofluorescence staining. Cox regression analysis performed to evaluate whether is an independent factor. Kaplan–Meier survival conducted determine cancer-specific survival. Results: mean average clinical specimens 8.06%...
Abstract Cyclin G2 ( CCNG2 ) is an atypical cyclin that inhibits cell cycle progression and often dysregulated in human cancers. the occurrence development of diabetic nephropathy (DN), one most severe complications, has not been fully identified. In this study, we investigated function regulatory mechanism DN. vivo studies revealed a deficiency significantly increased albuminuria promoted tubulointerstitial fibrosis established regulated expression fibrosis‐related proteins via canonical...
Abstract Background Heparanase activity plays a decisive role in biological processes associated with remodeling of the extracellular matrix (e.g., cancer metastasis, angiogenesis, and inflammation). gene overexpression has been advanced stage poor survival several cancers. We investigated potential association between single nucleotide polymorphisms (SNPs) HPSE‐1 gene, tumor susceptibility, clinicopathological parameters, gastric among Han population northern China. Methods In this...