A5101976798- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cancer-related molecular mechanisms research
- Breast Cancer Treatment Studies
- RNA modifications and cancer
- Cleft Lip and Palate Research
- Renal and related cancers
- Genomics and Rare Diseases
- Craniofacial Disorders and Treatments
- Parvovirus B19 Infection Studies
- Hepatitis B Virus Studies
- Drug Transport and Resistance Mechanisms
- Congenital Anomalies and Fetal Surgery
- Circular RNAs in diseases
- Congenital Heart Disease Studies
- Fetal and Pediatric Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Pediatric Urology and Nephrology Studies
- Estrogen and related hormone effects
- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Cancer Risks and Factors
- HER2/EGFR in Cancer Research
- MicroRNA in disease regulation
Harbin Medical University
2022-2025
Third Affiliated Hospital of Harbin Medical University
2022-2025
Guangzhou Medical University
2017-2024
Guangzhou Women and Children Medical Center
2022-2024
Southwest University of Science and Technology
2019
Hunan Provincial Maternal and Child Health Hospital
2019
Sun Yat-sen University
2014-2016
Fred Hutch Cancer Center
2012
Abstract Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into management remain limited practice. Herein, we report our experience implementing ES (pES) a large cohort of fetuses with anomalies detected by ultrasonography using hospital-based in-house multidisciplinary team (MDT) facilitated three-step genotype-driven followed phenotype-driven analysis framework. Methods We performed pES 1618...
In the past 50 years there have been considerable efforts to identify cellular receptor of hepatitis B virus (HBV). Recently, in vitro evidence from several groups has shown that sodium–taurocholate cotransporting polypeptide (NTCP, which is encoded by SLC10A1 and transports bile acids into hepatic cells enterohepatic recirculation) a strong candidate. particular, p.Ser267Phe variation results loss HBV function. We tested role NTCP as for chronic patients using genetic association study....
SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter bile acids (BAs) and receptor hepatitis B D viruses. NTCP also target of multiple drugs. We aimed to evaluate medical consequences loss function mutation p.Ser267Phe in SLC10A1. identified eight individuals with homozygous followed up 8-90 months. compared their total serum BAs 6 species 170 wild-type 107 heterozygous healthy individuals. performed in-depth examinations exome...
Abstract The genetic diagnosis of congenital heart defects (CHDs) is challenging because and phenotypic heterogeneity. aim our study was to evaluate the clinical value whole exome sequencing (WES) in prenatal CHDs a large cohort. Trio‐based WES performed 260 fetuses with negative for karyotype chromosome microarray analysis results. produced diagnostic yield 10% (26/260) entire Relative high rate observed cases cardiac rhabdomyoma (60%), complex (16.7%), septal defect (14.0%), conotruncal...
Hemophilia A (HA) is the most frequently occurring X-linked bleeding disorder caused by heterogeneous variants in F8 gene, one of largest genes known. Conventional molecular analysis requires a combination assays, usually including long-range polymerase chain reaction (LR-PCR) or inverse-PCR for inversions, Sanger sequencing next-generation single-nucleotide (SNVs) and indels, multiplex ligation-dependent probe amplification large deletions duplications. This study aimed to develop LR-PCR...
A global survey indicates that genetic syndromes affect approximately 8% of the population, but most diagnoses can only be performed after babies are born. Abnormal facial characteristics have been identified in various diseases; however, current identification technologies cannot applied to prenatal diagnosis. We developed Pgds-ResNet, a fully automated screening algorithm based on deep neural networks, detect high-risk fetuses affected by variety diseases. In for Trisomy 21, 18, 13, and...
Abstract Purpose The status of hormone receptors (HR) is an independent factor affecting survival and chemotherapy sensitivity in breast cancer (BC) patients, with estrogen receptor (ER) progesterone (PR) having the most significant effects. ER-/PR + phenotype has been controversial BC, experts will face many challenges determining treatment strategies. Herein, we systematically analyzed clinicopathological characteristics BC patients response to chemotherapy. Patients methods We included...
Background The persistence of inflammatory stimulus has a tight relationship with the development age-related diseases, ultimately resulting in gradual escalation prevalence tumors, but this phenomenon is rare young cancer patients. Breast arising women characterized by larger tumor diameters and more aggressive subtypes, so neoadjuvant chemotherapy (NACT) can be especially appropriate for population. Immune biomarkers have been reportedly linked to prognosis some malignant types, varying...
To assess the correlation between Z-scores of positive noninvasive prenatal testing (NIPT) results and predictive value (PPV) NIPT.Pregnancies with NIPT at Guangzhou Women Children's Medical Centre July 2017 May 2020 were included in this study. Fetal karyotyping or microarray analysis was provided to patients abnormal for confirmatory testing. Logistic regression analyses applied study relationship Z scores PPV performance. The optimal cutoff values indicating fetal common trisomies...
Abstract Objective To investigate the genetic causes and clinical outcomes of nonimmune hydrops fetalis (NIHF). Methods Cohort cases NIHF between July 2013 December 2018. Initial testing included quantitative fluorescence polymerase chain reaction for aneuploidies, karyotyping chromosomal microarray analysis (CMA). In negative results, whole exome sequencing (WES) fetuses parents was performed. Clinical post‐natal follow‐up assessments were conducted. Results One hundred nine patients...
There are a few literature reports of prenatal ultrasound manifestations Williams-Beuren syndrome. We aimed to explore the diagnosis syndrome by and chromosomal microarray analysis describe performance this syndrome.In retrospective study, we reported eight cases diagnosed at our diagnostic center from 2016 2021. systematically reviewed clinical data these cases, including indications for invasive testing, sonographic findings, QF-PCR results, pregnancy outcomes.In common features were...
Long intergenic noncoding RNA 01121 (LINC01121) has been reported to be aberrantly expressed and acts as an oncogene in pancreatic cancer. However, the detailed molecular mechanism of LINC01121 breast cancer remains largely unclear. In this study, we aimed investigate expression biological function cancer.LINC01121 miR-150-5p were measured cell lines using quantitative reverse transcription PCR. MTS flow cytometry assays performed determine proliferation, cycle, apoptosis. Cell migration...
The connection between the cellular microenvironment and tumor cells is crucial for progression. However, process by which normal fibroblasts (NFs) become cancer-associated (CAFs) unknown, mounting evidence suggests that some microRNAs (miRNAs) have an important role in converting NFs into CAFs. Breast cancer (BC) has been proven to enhanced miR-425-5p expression order support We discovered human mammary (HMFs) could uptake BC cell line-derived exosomes change their properties, promoting...
Objective: To evaluate the utility of a chromosomal microarray (CMA) in fetuses with isolated fetal growth restriction (FGR) and explore risk factors for prediction aberration perinatal adverse outcomes. Method: This study included 271 estimated weight less than 3rd percentile without other structural malformation. Early-onset late-onset FGR were defined as gestational weeks 32 more respectively. These patients underwent quantitative fluorescent polymerase chain reaction (QF-PCR) CMA...
Objective To evaluate the utility of chromosomal microarray analysis (CMA) in fetuses with isolated ventricular septal defect (VSD) and to explore favorable factors for predicting spontaneous closure defects. Methods The study included 436 singleton pregnancies seen at a referral prenatal diagnosis center, between January 2016 May 2020, which 168 VSD were diagnosed setting. was classified as an whether it had ultrasound soft markers or not. All patients underwent testing employing...
The Dandy-Walker malformation (DWM) is characterized by neuron dysregulation in embryonic development; however, the regulatory mechanisms associated with it are unclear. This study aimed to investigate role of NADH dehydrogenase 1 alpha subcomplex 4 (NDUFA4) regulating downstream signaling cascades and neuronal proliferation apoptosis. Ndufa4 overexpression promoted neurons inhibited their apoptosis vitro, which underwent reverse regulation short hairpin RNAs. Ndufa4-knockout (KO) mice...
There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim this study was to determine detection rate clinically significant abnormalities (CSCA) in fetuses with different USMs.This included USMs who underwent invasive prenatal diagnosis for karyotype and/or microarray (CMA) by categorizing into two groups: single USM (SUSM) and multiple (MUSMs).Of 358 cases USMs, CSCA occurred 3.09% (8/259) 8.08% (8/99) SUSM MUSM groups, respectively (P < 0.05). Of 16...
To report the frequency of maternal mosaicism contributing to false-positive chromosome X loss associated with noninvasive prenatal testing (NIPT) at a single center.Pregnancies undergone NIPT using massively parallel sequencing Guangzhou Women and Children's Medical Center between February 2015 May 2020 were included in this study. Fetal karyotyping, quantitative fluorescence PCR (QF-PCR) or microarray analysis was provided patients abnormal sex chromosomal aneuploidy (SCA) results for...
Nonsyndromic cleft lip with or without palate (NSCL/P) is one of the most common birth defects, and occurs in approximately 1/700 live births worldwide. The correlation between ABCA4-ARHGAP29 region NSCL/P was first identified by genome-wide association studies (GWAS), but few reports have examined caused ARHGAP29 mutations Chinese population.We performed chromosome microarray analysis (CMA) for two consecutive abnormal fetuses whole exome sequencing (WES) family, including 3 patients 2...