A5100408405- Neonatal Respiratory Health Research
- Epigenetics and DNA Methylation
- Respiratory Support and Mechanisms
- Lung Cancer Treatments and Mutations
- Congenital Diaphragmatic Hernia Studies
- Lung Cancer Diagnosis and Treatment
- Prenatal Screening and Diagnostics
- Ubiquitin and proteasome pathways
- Renal cell carcinoma treatment
- Cancer-related gene regulation
- Bladder and Urothelial Cancer Treatments
- Gastrointestinal Tumor Research and Treatment
- Diet and metabolism studies
- Radiomics and Machine Learning in Medical Imaging
- Parvovirus B19 Infection Studies
- Cancer Research and Treatments
- Genetic factors in colorectal cancer
- Cancer, Hypoxia, and Metabolism
- Esophageal Cancer Research and Treatment
- Chromatin Remodeling and Cancer
- Genomics and Rare Diseases
- RNA modifications and cancer
- Infant Development and Preterm Care
- Research in Cotton Cultivation
- Cancer Genomics and Diagnostics
Sun Yat-sen University
2025
Chinese PLA General Hospital
2019-2024
Sichuan University
2023-2024
West China Second University Hospital of Sichuan University
2023-2024
Children's Hospital of Fudan University
2022-2024
Cixian People's Hospital
2024
Institute of Biophysics
2024
Chinese Academy of Sciences
2024
Renji Hospital
2024
Shanghai Jiao Tong University
2024
Esophageal squamous cell carcinoma (ESCC) is one of the most common cancers worldwide and fourth lethal cancer in China. However, although genomic studies have identified some mutations associated with ESCC, we know little mutational processes responsible. To identify genome-wide signatures, performed either whole-genome sequencing (WGS) or whole-exome (WES) on 104 ESCC individuals combined our data those 88 previously reported samples. An APOBEC-mediated signature 47% 192 tumors suggests...
Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim this study was assess potential value ECS for clinical application in Southern China, a region high prevalence thalassemia and diverse ethnic groups, provide reference future implementations areas similar population characteristics. A total 10,476 prenatal/preconception couples from 34 self-reported groups were simultaneously tested analyzed anonymously...
Immunoglobulin A nephropathy (IgAN) has a heterogeneous clinical presentation. Comparison of different IgAN subgroups may facilitate the application more targeted therapies. This study was aimed to distinct disease phenotypes in and develop prognostic models for renal composite outcomes. Clinical pathological data were from 2000 patients with biopsy-proven primary four centers, including First Affiliated Hospital Sun Yat-sen University (SYSU), Fifth University, Huadu District People's...
Extracranial atherosclerosis is one of the major causes stroke. Carotid computed tomography angiography (CTA) a widely used imaging modality that allows detailed assessments plaque characteristics. This study aimed to develop and test radiomics models carotid plaques perivascular adipose tissue (PVAT) distinguish symptomatic from asymptomatic compare diagnostic value between traditional CTA model.A total 144 patients with were divided into groups. The model was built by radiological features...
Abstract Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase ( PAH ) 6-pyruvoyltetrahydropterin PTS coding to determine parental haplotypes...
Anaplastic lymphoma kinase (ALK) is a highly responsive therapeutic target for
Abstract Background Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of diagnose monogenic disorders is limited. This study was develop a method directly determining paternal haplotypes diagnosis without requiring proband’s samples. Methods The recruited 40 families at high risk autosomal recessive diseases. targeted linked-read performed on molecular weight (HMW) DNA parents using customized probes designed...
The closure of large or perforated defects has posed a significant challenge in the evolution endoscopic treatments. over-the-scope (OTS) clip, once mainstay for such closures, certain limitations, as necessity pre-procedure attachment to endoscope's tip, which may entail additional surgical entries and potentially longer operative times, increasing risk complications like postoperative peritonitis [1].
Key Clinical Message The patient was found to have multiple uterine myomas at the age of 19, underwent laparoscopic myomectomy 20, and laparotomic again 23 due recurrence myoma. At 25, reappeared with symptoms recurrence, diagnosed leiomyomas (ULMs) FH mutation high‐grade squamous intraepithelial lesion (HSIL/CIN III) gland involvement, after complete examination. Fumarate hydratase (FH) screening is important when gynecologists encounter patients early onset ULMs, it can give diagnosis...
This study aimed to validate the feasibility of haplotype-based noninvasive prenatal diagnosis (NIPD) cobalamin C (cblC) deficiency.This method includes three steps: First, targeted sequencing was performed on 21 families affected by cblC deficiency (including couples and probands). Second, parental haplotypes linked with pathogenic variant were determined using genotypes trios. Then, fetal inferred through a haplotype assisted hidden Markov model (HMM). The NIPD results confirmed invasive...
Epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) are standard treatment for advanced non-small cell lung cancer (NSCLC). However, the emergence of EGFR-TKIs resistance poses a big challenge to treatment. Although several resistant mutations have been identified, our understanding mechanisms underlying acquired remains incomplete. This study aimed identify novel and that could contribute in EGFR mutated NSCLC cells.Erlotinib cells (HCC827/ER cells) were generated from...