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Article
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
Congenital auricular deformity (CAD) is a complex phenotype that may occur as a single malformation or part of a congenital syndrome. The genetic architecture and utility of next-generation sequencing (NGS) in...
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Article
Application of VR technology based on interactive genetic algorithm in the protection of ethnic intangible cultural heritage images in Guangxi
Interactive genetic algorithms can combine people's subjective emotions with genetic algorithms, and can be used to solve some related problems that cannot be constructed functions. Many problems in people's d...
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Article
In the develo** cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes
Special AT-rich sequence-binding protein 2 is essential for the development of cerebral cortex and key molecular node for the establishment of proper neural circuitry and function. Mutations in the SATB2 gene lea...
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Open AccessA world renowned psychophysiologist: Kaoliang Chow
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Open AccessTsai Chiao: The founder of physiology and aviation, aerospace and navigation medicine in China
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Article
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a ca...
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Open AccessTe-Pei Feng: a pioneer of neuromuscular physiology in China
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Open AccessHBx increases chromatin accessibility and ETV4 expression to regulate dishevelled-2 and promote HCC progression
Hepatitis B virus (HBV) infection is the predominant causes of hepatocellular carcinoma (HCC). HBV X protein (HBx), as the most frequently integrated viral gene sequence following HBV infection, plays a critic...
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Open AccessCorrection to: A world renowned psychophysiologist: Kaoliang Chow
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Article
CYP2C9*3 Increases the Ibuprofen Response of Hemodynamically Significant Patent Ductus Arteriosus in the Infants with Gestational Age of More Than 30 Weeks
Hemodynamically significant patent ductus arteriosus (hsPDA) is a severe condition in newborns. Ibuprofen is an effective treatment to reduce the severe complications and the need for surgical treatment. Sever...
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Article
Open AccessPhenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort
Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAK...
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Open AccessKuo-Hua Sun: The founder of physiologic psychology and child psychology in China
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Open AccessGenetic Architecture of Childhood Kidney and Urological Diseases in China
Kidney disease is manifested in a wide variety of phenotypes, many of which have an important hereditary component. To delineate the genotypic and phenotypic spectrum of pediatric nephropathy, a multicenter re...
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Open AccessChi-Nan Hu—Pioneer of Chinese neuroscience and cognitive science
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Open AccessZing-Yang Kuo and behavior epigenesis based on animal experiments
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Open AccessClinical utility of 24-h rapid trio-exome sequencing for critically ill infants
Genetic diseases are a leading cause of death in infants in the intensive care setting; therefore, rapid and accurate genetic diagnosis is desired. To validate 24-h trio-exome sequencing (TES), samples from pr...
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Article
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China
Genome sequencing is used to make genetic diagnoses in critically ill infants with rapid turnaround time (TAT). Herein, to delineate the value of a genetic diagnosis, we provide the results from 130 pediatric...
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Article
Open AccessNovel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.
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Open AccessJiao Shao: A forerunner of physiological psychology and comparative psychology in China
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H3K9me3, H3K36me3, and H4K20me3 Expression Correlates with Patient Outcome in Esophageal Squamous Cell Carcinoma as Epigenetic Markers
Histone methylation, as an essential pattern of posttranslational modifications, contributes to multiple cancer-related biological processes. Dysregulation of histone methylation is now considered a biomarker ...
