A5101512965- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Down syndrome and intellectual disability research
- Prenatal Screening and Diagnostics
- Ear Surgery and Otitis Media
- Hearing, Cochlea, Tinnitus, Genetics
- Fetal and Pediatric Neurological Disorders
- Peripheral Artery Disease Management
- Genetic Syndromes and Imprinting
- Bone health and treatments
- Hearing Loss and Rehabilitation
- Vascular Procedures and Complications
- Coronary Interventions and Diagnostics
- Genomics and Rare Diseases
- Indoor Air Quality and Microbial Exposure
- Cardiac and Coronary Surgery Techniques
- Problem and Project Based Learning
- Cocoa and Sweet Potato Agronomy
- Second Language Acquisition and Learning
- Bone health and osteoporosis research
- Cancer-related gene regulation
- Patient Dignity and Privacy
- Artificial Intelligence in Healthcare and Education
- Odor and Emission Control Technologies
Children's Hospital of Chongqing Medical University
2012-2024
Chongqing Medical University
2012-2024
Sichuan University
2015-2024
West China Hospital of Sichuan University
2024
China International Science and Technology Cooperation
2018-2020
Brigham and Women's Hospital
2018-2019
Harvard University
2018-2019
University of California, San Diego
2016
University of California San Diego Medical Center
2016
Nanjing Agricultural University
2008-2009
In the context of climate change, assessing adaptive potential species and populations is crucial for developing effective conservation strategies. Changes in plant gene expression play a significant role adaptation process to change. This study aims explore responses conifer Chamaecyparis hodginsii (the name has been revised from Fokienia ) change analyze molecular-level reactions these long-lived trees climatic shifts. It seeks understand their phenotypic identify key environmental factors...
Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which caused variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes gene variations in 14 unrelated investigate phenotypic differences between French cohorts. Next generation sequencing was performed for each patient, variants were validated Sanger sequencing. The 16...
Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, more large-scale warranted. Some factors increase likelihood a monogenic cause stature, including skeletal dysplasia, severe small gestational age (SGA) without catch-up growth. However, whether these can serve as predictors molecular diagnosis remains unknown.
Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene ( UBE3A ). As one most challenging symptoms and important focuses new treatment, sleep disturbance reported to occur in 70–80% patients with AS has serious impact on lives their families. Although clinical studies animal model have provided some clues, recent research into disorders context still very limited. It generally accepted that there an...
In China, pedestrians were the most common and vulnerable of road users, meaning involved in vehicle-pedestrian accidents more frequently. Little attention has been paid to investigation such accidents. One surveying group was built randomly collect analyse these from vehicle–pedestrian crash characteristics relationships between pedestrian injury outcome impact speed. 184 injured killed investigated passenger-car-pedestrian Among accidents, 151 crossing arbitrarily (82.1%). There only 17...
Background: The epidemiology and severity of asthma vary by sex age. diagnosis, treatment, management in female patients are quite challenging. However, there is hitherto no comprehensive standardized guidance for with asthma. Methods: Corresponding search strategies were determined based on clinical concerns regarding Search terms included “sex hormones lung development”, hormone changes asthma”, “hormones immune response”, “women, “children, “puberty, “menstruation, “pregnancy, “lactation,...
Background Currently, there is a lack of evidence for the long‐term bioprosthetic valve durability patients with bicuspid aortic (BAV) following transcatheter replacement (TAVR). Methods and Results This study aimed to evaluate hemodynamic outcome, structural deterioration, failure during follow‐up after TAVR in BAV versus tricuspid (TAV). Patients TAV who underwent between 2012 2020, echocardiography followed at least 3 years, were included. Baseline characteristics, performance, compared...
SummaryClementines are an important group of citrus cultivars. However, little is known about their genetic diversity. In this study, methylation-sensitive amplification polymorphism (MSAP), based on the application isoschizomers (Hpa II and Msp I), was used to analyse cytosine methylation patterns in 18 Clementine Conventional AFLP analysis showed only two polymorphic bands out a total 1,822 generated using 28 primer pairs. Three types were by MSAP 27 pairs primers. Type I present both Eco...
DNA methylation is a major epigenetic mechanism regulating gene expression. In order to analyze the impact of one‑carbon unit cycle on overall level in children with Down's syndrome (DS), levels indicators associated cycle, including folic acid (FA), vitamin B12 (VB12) and homocysteine (Hcy), DS healthy controls (HCs) were determined present study. A total 36 40 age‑ gender‑matched HCs included study determine FA, VB12, Hcy methylation. The effect within group was analyzed. results...
Abstract The aim of this study was to better understand the relationship bone mass with body composition based on different stages puberty and illuminate contribution site-specific fat lean (FM LM) compared in school-aged children adolescents Chongqing, China. A total 1179 healthy subjects both sexes were recruited. Bone mineral content (BMC), density (BMD), area, FM LM measured by dual-energy X-ray absorptiometry (DXA). indexes (FMI LMI, respectively) calculated as (kg) divided height...
Abstract Background Down syndrome (DS) is a common chromosomal disease resulting in neurodegeneration. Cognitive competence has been assessed among adults with DS using various methods because patients have tendency to develop Alzheimer’s (AD) after middle age. However, research describing cognitive assessments children not as many adults, let alone regard performed analyses determine factors that predict assessments. In this study, we evaluated the Gesell Developmental Schedules (GDS)...
In 2020, our center established a Tanner-Whitehouse 3 (TW3) artificial intelligence (AI) system using convolutional neural network (CNN), which was built upon 9059 radiographs. However, the system, study is based, lacked gold standard for comparison and had not undergone thorough evaluation in different working environments.
SummarySweet orange (Citrus sinensis) represents an important group of Citrus fruit; however, the identification sweet cultivars during vegetative growth can be difficult. A study on genetic may significant for nursery industry, cultivar-rights protection, and is evaluation conservation these cultivars. In this study, amplified fragment length polymorphism (AFLP) markers were used to genotype 57 Ten PCR primer pairs generated 629 unique AFLP bands, with a size range 50 ? 500 bp. Seventy-four...
Abstract High‐throughput sequencing and high‐performance computing technologies have become powerful tools in clinical genetic diagnosis of hereditary disorders screening healthy individuals to provide information for the diagnosis, treatment, prevention diseases or impairment assessment health. For patients with undiagnosed disorders, including many rare whole‐genome (WGS) test may end diagnostic odyssey, ultimately guiding care them their families. A WGS relies on high‐quality...
Purpose: Concurrent newborn hearing and genetic screening has been reported, but its benefits have not statistically proven due to limited sample sizes outcome data. To fill this gap, we analyzed outcomes of a large number newborns with results. Methods: Newborns in China were screened for 20 hearing-loss-related variants from 2012-2017. Genetic results categorized as positive, at-risk, inconclusive, or negative. Hearing results, risk factors, up-to-date status followed-up via phone...