Tingying Lei
YOU?
Author Swipe
View article: Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study Open
Objective To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses. Methods Fetuses with macrocephaly (head circumference (HC) ≥ +2 SD) and negative chromosomal microarray results were included, who had available …
View article: Targeting the ceramidase ACER3 attenuates cholestasis in mice by mitigating bile acid overload via unsaturated ceramide-mediated LXRβ signaling transduction
Targeting the ceramidase ACER3 attenuates cholestasis in mice by mitigating bile acid overload via unsaturated ceramide-mediated LXRβ signaling transduction Open
Bile acid overload critically drives the pathogenesis of cholestatic liver injury (CLI). While ceramide metabolism has garnered increasing interest in liver research, the role of ceramides in CLI remains unclear. This study investigates th…
View article: KRT14 knockdown reduces cisplatin resistance by lowering LRP11 expression levels in cisplatin-resistant ovarian cancer cell lines
KRT14 knockdown reduces cisplatin resistance by lowering LRP11 expression levels in cisplatin-resistant ovarian cancer cell lines Open
Cisplatin-resistant ovarian cancer cell lines revealed elevated KRT14 expression. KRT14 knockdown reduced cisplatin resistance by lowering LRP11 expression. Therefore, KRT14 may play a crucial role in mediating cisplatin resistance in ovar…
View article: Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population
Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population Open
Our findings demonstrate the significant diagnostic value of trio-WES in pediatric pulmonary hypertension, supporting its recommendation for these patients.
View article: Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature
Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature Open
Objective The recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and is characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal dele…
View article: Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma
Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma Open
Background The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was use…
View article: Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations Open
(1) Purpose: Retrospective back-to-back comparisons were performed to evaluate the accuracy, effectiveness, and incremental yield of chromosome microarray analysis (CMA) and exome sequencing (ES) analysis in fetuses with digestive system m…
View article: Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma
Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma Open
Background The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was use…
View article: ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2
ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2 Open
Congenital heart disease (CHD) is a serious condition with unknown etiology. In a recent study, a compound heterozygous mutation (c.3526C > T [p.Arg1176Trp] and c.4643A > G [p.Asp1548Gly]) in the ASXL3 gene was identified, which is associa…
View article: Genetic diagnosis of fetal microcephaly at a single tertiary center in China
Genetic diagnosis of fetal microcephaly at a single tertiary center in China Open
Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly …
View article: Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature
Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature Open
PPP2R1A-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo PPP2R1A mutation. It is characterized by the predominant features of hypotonia, developmenta…
View article: Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion
Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion Open
(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome and to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive prenatal diagn…
View article: Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra
Prenatal Diagnosis and Outcomes in Fetuses with Hemivertebra Open
Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. Method:…
View article: Should prenatal chromosomal microarray analysis be offered for isolated ventricular septal defect? A single-center retrospective study from China
Should prenatal chromosomal microarray analysis be offered for isolated ventricular septal defect? A single-center retrospective study from China Open
Objective To evaluate the utility of chromosomal microarray analysis (CMA) in fetuses with isolated ventricular septal defect (VSD) and to explore the favorable factors for predicting spontaneous closure of defects. Methods The study inclu…
View article: Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis Open
Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and d…
View article: Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development
Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development Open
Congenital heart disease (CHD) is the most common birth defect. Although ASXL transcriptional regulator 3 (ASXL3) has been reported to cause hereditary CHD, ASXL3-mediated mechanisms in heart development remain unclear. In this study, we u…
View article: Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development
Identification of differential microRNAs and messenger RNAs resulting from ASXL transcriptional regulator 3 knockdown during during heart development Open
Congenital heart disease (CHD) is the most common birth defect. Although ASXL transcriptional regulator 3 (ASXL3) has been reported to cause hereditary CHD, ASXL3-mediated mechanisms in heart development remain unclear. In this study, we u…
View article: Microarray screening for key genes and prognosis factors in interferon regulatory factor 1-silenced ovarian cancer SKOV-3 cells
Microarray screening for key genes and prognosis factors in interferon regulatory factor 1-silenced ovarian cancer SKOV-3 cells Open
Background: Ovarian cancer is a gynecological neoplastic disease with high mortality rate. Its early detection is difficult because of the lack of specific clinical symptoms. This study aimed to identify key genes and prognosis factors ass…
View article: NDUFA4 enhances neuron growth by triggering growth factors and inhibiting neuron apoptosis through Bcl-2 and cytochrome C mediated signaling pathway.
NDUFA4 enhances neuron growth by triggering growth factors and inhibiting neuron apoptosis through Bcl-2 and cytochrome C mediated signaling pathway. Open
Dandy-Walker malformation (DWM) is the most prevalent congenital malformation in cerebellum, however, pathological mechanism of DWM has not been fully clarified. This study aims to investigate effects of NDUFA4 on growth of neurons. LV5-ND…
View article: Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract Open
Applying WES to the prenatal diagnostic approach in CAKUT fetuses with or without other anomalies allows for an accurate and early etiology-based diagnosis and improved clinical management. To expedite interpretation of the results, trio s…