A5079112064- Ferroptosis and cancer prognosis
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Renal cell carcinoma treatment
- Genomic variations and chromosomal abnormalities
- Viral-associated cancers and disorders
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Ovarian cancer diagnosis and treatment
- Autophagy in Disease and Therapy
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Cancer Mechanisms and Therapy
- Economic and Financial Impacts of Cancer
- Reproductive System and Pregnancy
- Synthesis and Characterization of Heterocyclic Compounds
- Fetal and Pediatric Neurological Disorders
- Cancer, Lipids, and Metabolism
- Thyroid Cancer Diagnosis and Treatment
- Genetic and Kidney Cyst Diseases
- Lung Cancer Research Studies
- Drug Transport and Resistance Mechanisms
- Ubiquitin and proteasome pathways
- Complement system in diseases
International Peace Maternity & Child Health Hospital
2018-2025
Shanghai Jiao Tong University
2016-2025
Shanghai Municipal People's Government
2020-2021
Shanghai First People's Hospital
2016
Abstract Background To determine the pathogenicity of a novel splicing variant in SMARCC2 gene identified from pair adult male monozygotic twins with neurodevelopmental disorder, and to investigate genotype-phenotype characteristics associated variants. Methods Whole-exome sequencing (WES) was conducted on proband, candidate variants were validated using Sanger within family. The effect mRNA processing analyzed reverse transcription PCR (RT-PCR) TA-clone samples derived proband. clinical...
Abstract STUDY QUESTION Can whole genome sequencing (WGS) offer a relatively cost-effective approach for embryonic genome-wide haplotyping and preimplantation genetic testing (PGT) monogenic disorders (PGT-M), aneuploidy (PGT-A) structural rearrangements (PGT-SR)? SUMMARY ANSWER Reliable haplotyping, PGT-M, PGT-A PGT-SR could be performed by WGS with 10× depth of parental 4× data. WHAT IS KNOWN ALREADY Reduced representation next-generation haplarithmisis-based solution has been verified as...
The incidence of gastric cancer (GC) is extremely high in East Asia. GC also one the most common and lethal forms from a global perspective. However, to date, we have not been able determine or several genes as biomarkers diagnosis unable identify which are important therapy GC. In this study, analyzed all genome-wide expression profiling arrays uploaded onto Gene Expression Omnibus (GEO) database filtrate differentially expressed (DEGs) between normal stomach tissues tissues. GSE13911,...
Triple negative breast cancer (TNBC) account for about 20% of carcinomas and the American society clinical oncology guidelines does not specify approaches TNBC patients since lack specific driver molecules targeted drugs.We filtered out aberrantly expressed mRNAs on basis RNA-seq data deposited in Gene Expression Omnibus database, verified deeply analyzed screened differentially genes (DEGs) using a combined bioinformatics approach.Of 21,755 with 472 cases from 3 independent laboratories,...
Non-invasive prenatal testing (NIPT) for common fetal trisomies is effective. However, the usefulness of cell-free DNA to detect other chromosomal abnormalities poorly understood. We analyzed positive rate at different read depths in next-generation sequencing (NGS) and identified a strategy copy number variant (CNV) detection NIPT. Pregnant women who underwent NIPT by NGS 4–6 M fetuses with suspected CNVs were amniocentesis microarray analysis (CMA). These fetus samples re-sequenced depth...
Existing clinical methods for prognosis evaluating Epithelial Ovarian Cancer (EOC) patients had defects of invasive, unsystematic and subjective little data are available individualizing treatment, therefore, to identify potential prognostic markers new therapeutic targets EOC is urgently required.Expression 232 autophagy-related genes (ARGs) in 354 56 human ovarian surface epithelial specimens from 7 independent laboratories were analyzed, 31 mRNAs identified as DEARGs. We did functional...
Abstract Background Little data is available on prognostic biomarkers and effective treatment options for Kidney Renal Papillary Cell Carcinoma (KIRP) patients, to find potential new targets was an urgent mission KIRP therapy. Methods The differentially expressed autophagy-related genes (DEARGs) were screened out according the RNA sequencing in Cancer Genome Atlas database, then identified survival-related DEARGs establish a model survival predicting of patients. Then we verified robustness...
Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and limited number of studies have investigated the pathogenic mechanism variants in patients with JS. RNA splicing analysis critical to determine functional significance for noncanonical variants.Whole exome sequencing was performed screen causative gene JS family. Sanger used verify variants. cDNA PCR products were analyzed experiments pathogenicity variants.The clinical...
Human anion exchanger 1 and 2 (AE1 AE2) mediate the exchange of Cl−/HCO3 − across plasma membrane regulate intracellular pH (pHi). AE1 is specifically expressed on surface erythrocytes, while AE2 widely in most tissues, particularly abundant parietal cells. Previous studies showed that an interaction between p16 a key event gastric cancer (GC) progression, but importance GC unclear. The relationship among AE1, cells was characterized by molecular cellular experiments. expression pHi were...
Serous ovarian carcinomas (SCA) are the most common and aggressive carcinoma subtype which etiology remains unclear. To investigate prospective role of mRNAs in tumorigenesis progression SCA, aberrantly expressed were calculated based on NCBI-GEO RNA-seq data. Of 21,755 genes with 89 SCA SBOT cases from 3 independent laboratories, 59 identified as differentially (DEGs) (|log2Fold Change| > 1.585, also |FoldChange| adjusted P < 0.05) by DESeq R. There 26 up-regulated DEGs 33 down-regulated...
Lung adenocarcinoma (LUAD) comprises around 40% of all lung cancers, and in about 70% patients, it has spread locally or systemically when first detected leading to a worse prognosis.We filtered out differentially expressed genes (DEGs) based on the RNA sequencing data Gene Expression Omnibus database verified deeply analyzed screened DEGs using combined bioinformatics approach.Expressions 11,143 694 nontumor tissues LUAD cases from 8 independent laboratories were analyzed; 188 mRNAs...
Background: The lifespan of Marfan Syndrome (MFS) patients is shortened, especially in without early diagnostics, preventive treatment, and elective surgery. Clinically, MFS diagnosis mainly dependent on phenotypes, but for children, sporadic cases, or suspicious patients, molecular genetic testing, FBN1 mutation screening, plays a significant role the MFS. PGT-M gives couples that had family history monogenic disorders opportunity to avoid occurrence Methods: In this study, 11 families with...
This study is aimed at constructing a risk signature to predict survival outcomes of ORCA patients.We identified differentially expressed autophagy-related genes (DEARGs) based on the RNA sequencing data in TCGA database; then, four independent survival-related ARGs were construct an autophagy-associated for prediction patients. The validity and robustness prognostic model validated by clinicopathological data. Subsequently, DEARGs that composed evaluated individually.The expressions 232...
Tumor immunity serves an essential role in the occurrence and development of thyroid cancer (THCA). The aim this study is to establish immune-related prognostic model for THCA patients by using genes (IRGs).Wilcox test was used screen differentially expressed (DEIRGs) normal tissues, then DEIRGs related prognosis were identified univariate Cox regression analysis. According Cancer Genome Atlas (TCGA) cohort, we developed a least absolute shrinkage selection operator (LASSO) performed...
The immune system played a multifaceted role in ovarian cancer (OC) and was significant mediator of carcinogenesis. Various cells gene products an integrated progression, proved the significance microenvironment prognosis. Therefore, we aimed to establish validate prognostic signature for OC patients' prognosis prediction.Differently expressed Immune-related genes (DEIRGs) were identified 428 77 normal ovary tissue specimens from 9 independent GEO datasets. Cancer Genome Atlas (TCGA) cohort...
Kabuki syndrome (KS) is a rare congenital mental retardation condition characterized by facial dysmorphia, visceral and skeletal malformations, developmental delay. The integrated phenotype genotype-based prioritization critical for diagnoses of genetic diseases. In this study, Chinese woman, presenting with characteristic features KS, came pre-pregnancy consultation. We aimed to clarify the diagnosis provide counseling. Facial dysmorphology analysis next-generation sequencing-based...
X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency disorder. We performed experiments based on two strategies of preimplantation genetic testing (PGT) for family with XLP caused by mutation in SH2D1A (c.191G > A). First, single-cell polymerase chain reaction (PCR) protocol was established using single lymphocytes. A nested PCR experiment direct sequencing after whole genome amplification cells to assess the accuracy diagnosis. Embryos obtained intracytoplasmic...