Xuelian He
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View article: Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review
Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review Open
Background Majeed syndrome is a rare autosomal recessive autoinflammatory disorder caused by LPIN2 mutations. It is characterized by chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and, in some…
View article: Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome
Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome Open
Pathogenic variants in MED13L cause MED13L syndrome, a well-defined neurodevelopmental disorder characterized by motor deficits, intellectual disability, and language delay, yet its underlying developmental and molecular mechanisms remain …
View article: Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis
Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis Open
Introduction The TNFRSF9 gene encodes the costimulatory receptor CD137, also known as 4-1BB, which plays a critical role in sustaining effective cytotoxic T-cell responses. Variants in the TNFRSF9 gene are associated with an extremely rare…
View article: A novel USP27X missense variant identified in an individual with intellectual disability
A novel USP27X missense variant identified in an individual with intellectual disability Open
View article: Prediction of Postoperative Drainage in Children: The role of Cyst Diameter and Age
Prediction of Postoperative Drainage in Children: The role of Cyst Diameter and Age Open
Objective: This study aimed to explores the placement and early removal criteria of abdominal drainage tubes after robotic-assisted laparoscopic cyst excision of the common bile duct, providing more scientifically sound and individualized …
View article: Protein Kinase A Regulates the Cell Cycle to Affect the Induction Rate in the Parthenogenetic Reproduction of the Silkworm, Bombyx mori
Protein Kinase A Regulates the Cell Cycle to Affect the Induction Rate in the Parthenogenetic Reproduction of the Silkworm, Bombyx mori Open
Protein kinase A (PKA), commonly referred to as cAMP-dependent protein kinase, exists as a heterotetramer composed of two catalytic (C) and regulatory subunits (R). This versatile kinase exhibits regulatory functions in various biological …
View article: Development and Characterization of a larp7 Knockout Zebrafish Model for Alazami syndrome
Development and Characterization of a larp7 Knockout Zebrafish Model for Alazami syndrome Open
Background Alazami syndrome (AS) is a rare autosomal recessive disorder characterized by severe growth restriction, significantly impaired intellectual development, microcephaly, and distinctive facial features, caused by variants in the L…
View article: Decreased Cdk2 Activity Hindered Embryonic Development and Parthenogenesis Induction in Silkworm, Bombyx mori L.
Decreased Cdk2 Activity Hindered Embryonic Development and Parthenogenesis Induction in Silkworm, Bombyx mori L. Open
Cyclin-dependent protein kinase 2 (Cdk2), an important member of the serine/threonine-specific protein kinase family, plays a critical regulatory role in biological processes. Previous studies have demonstrated that Cdk2 is involved in the…
View article: MPF Regulates Oocyte and Embryo Development During Parthenogenesis Induction in Silkworm, Bombyx mori
MPF Regulates Oocyte and Embryo Development During Parthenogenesis Induction in Silkworm, Bombyx mori Open
In most species, oocytes are arrested at the prophase or metaphase of meiosis I and require sperm-derived or external stimuli to resume meiosis. Maturation-promoting factor (MPF) is an oocyte maturation factor composing the catalytic subun…
View article: PPARs Activity Affects the Hatchability Through Lipid Metabolism Regulation in Silkworm, Bombyx mori L.
PPARs Activity Affects the Hatchability Through Lipid Metabolism Regulation in Silkworm, Bombyx mori L. Open
Lipid metabolism serves as the primary energy source for organisms. Silkworm eggs for spring use are divided into two types: autumn-produced eggs for next spring rearing (AS) and spring-produced eggs for next spring rearing (SS). Productio…
View article: Theoretical insight into thermoelectric response of valleytronic semiconductor 1H-TiNBr monolayer
Theoretical insight into thermoelectric response of valleytronic semiconductor 1H-TiNBr monolayer Open
View article: Clinical and genetic characterization of Congenital disorders of glycosylation in 20 Chinese patients: novel variants and genotype-phenotype correlations
Clinical and genetic characterization of Congenital disorders of glycosylation in 20 Chinese patients: novel variants and genotype-phenotype correlations Open
Background: Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. These disorders can affect mu…
View article: Cross-sectional study on the association between serum uric acid levels and non-alcoholic fatty liver disease in an elderly population
Cross-sectional study on the association between serum uric acid levels and non-alcoholic fatty liver disease in an elderly population Open
View article: Reference intervals of inhibin B in Chinese children on chemiluminescence analyzer
Reference intervals of inhibin B in Chinese children on chemiluminescence analyzer Open
View article: Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices
Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices Open
Introduction Mucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detec…
View article: Dexmedetomidine for the prevention of postoperative delirium in patients undergoing cardiac surgery: A systematic review and meta-analysis with trial sequential analysis
Dexmedetomidine for the prevention of postoperative delirium in patients undergoing cardiac surgery: A systematic review and meta-analysis with trial sequential analysis Open
View article: A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever
A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever Open
Immunodeficiency 11B with atopic dermatitis (IMD11B, OMIM:617638) is rare primary immunodeficiency disease caused by germline dominant negative (DN) mutations in the CARD11 gene. Affected patients present with immune dysfunction, recurrent…
View article: Analysis of epilepsy‐associated variants in <scp><i>HCN3</i></scp> – Functional implications and clinical observations
Analysis of epilepsy‐associated variants in <span><i>HCN3</i></span> – Functional implications and clinical observations Open
Objective This case study investigates the role of hyperpolarization‐activated, cyclic nucleotide‐gated (HCN) ion channels, which are integral membrane proteins crucial for regulating neuronal excitability. HCN channels are composed of fou…
View article: Genome-wide association study of maternal plasma metabolites during pregnancy
Genome-wide association study of maternal plasma metabolites during pregnancy Open
Metabolites are key indicators of health and therapeutic targets, but their genetic underpinnings during pregnancy-a critical period for human reproduction-are largely unexplored. Using genetic data from non-invasive prenatal testing, we p…
View article: The formation and alteration of macrofungal “small islands” from the Qinling Mountains based on a novel DNA metabarcoding identification method
The formation and alteration of macrofungal “small islands” from the Qinling Mountains based on a novel DNA metabarcoding identification method Open
Sporocarps of macrofungi support other diverse fungal species that are termed fungicolous fungi. However, a pipeline for the simultaneous processing and analysis of macrofungi and their fungicolous fungi, in addition to the external enviro…
View article: Correction: Suppression of Mitochondrial Complex I Influences Cell Metastatic Properties
Correction: Suppression of Mitochondrial Complex I Influences Cell Metastatic Properties Open
[This corrects the article DOI: 10.1371/journal.pone.0061677.].
View article: Small-molecule-induced epigenetic rejuvenation promotes SREBP condensation and overcomes barriers to CNS myelin regeneration
Small-molecule-induced epigenetic rejuvenation promotes SREBP condensation and overcomes barriers to CNS myelin regeneration Open
Remyelination failure in diseases like multiple sclerosis (MS) was thought to involve suppressed maturation of oligodendrocyte precursors; however, oligodendrocytes are present in MS lesions yet lack myelin production. We found that oligod…
View article: Age- and sex-dependent reference intervals of inhibin B in Chinese children on chemiluminescence analyzer
Age- and sex-dependent reference intervals of inhibin B in Chinese children on chemiluminescence analyzer Open
Backgroud: Inhibin B (INHB) is an emerging biomarker of sexual function diseases, but its clinical use in children is hindered due to the lacking reference intervals (RIs) based on age sex.Methods: A total of 622 healthy Chinese children w…
View article: Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype Open
View article: Comparison of outcomes between preservation or division of the uterine round ligament in laparoscopic groin hernia repair in females: a meta-analysis and trial sequential analysis
Comparison of outcomes between preservation or division of the uterine round ligament in laparoscopic groin hernia repair in females: a meta-analysis and trial sequential analysis Open
View article: Silica-Based Egfr-Degrading Nano-Protacs for Efficient Therapy of Non-Small Cell Lung Cancer
Silica-Based Egfr-Degrading Nano-Protacs for Efficient Therapy of Non-Small Cell Lung Cancer Open
View article: Discovery of Potent Hypoxia-Inducible Factor-1α (Hif-1α) Degraders by Proteolysis Targeting Chimera (Protac)
Discovery of Potent Hypoxia-Inducible Factor-1α (Hif-1α) Degraders by Proteolysis Targeting Chimera (Protac) Open
View article: Silica-Based Egfr-Degrading Nano-Protacs for Efficient Therapy of Non-Small Cell Lung Cancer
Silica-Based Egfr-Degrading Nano-Protacs for Efficient Therapy of Non-Small Cell Lung Cancer Open
View article: The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment
The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment Open
View article: Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: Expanding the phenotype
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: Expanding the phenotype Open
Background Germline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease also known as activated phosphoinositide 3-kinase (PI3K) δ syndrome type 1(APDS1). Affected patients prese…