Lili Hao
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View article: Exploring the molecular characteristics of inflammatory bowel disease from the perspective of hypoxia-related genes
Exploring the molecular characteristics of inflammatory bowel disease from the perspective of hypoxia-related genes Open
Background Inflammatory bowel disease (IBD) constitutes a chronic inflammatory disorder affecting the gastrointestinal tract, characterized by a multifaceted pathogenesis that encompasses genetic, environmental, and immunological influence…
View article: Identification of serine acetyltransferase (SAT) gene family in peach (Prunus persica) and study on the function of PpSAT1 gene regulating adventitious root formation
Identification of serine acetyltransferase (SAT) gene family in peach (Prunus persica) and study on the function of PpSAT1 gene regulating adventitious root formation Open
Background Serine acetyltransferase (SAT), an enzyme that catalyzes the formation of O-acetyl-serine (OAS), is integral to sulfur assimilation, cysteine (Cys) synthesis, and adventitious root development. However, it remains unclear how th…
View article: Amelioration of Inflammation in Rats with Experimentally Induced Asthma by Spenceria ramalana Trimen Polyphenols via the PI3K/Akt Signaling Pathway
Amelioration of Inflammation in Rats with Experimentally Induced Asthma by Spenceria ramalana Trimen Polyphenols via the PI3K/Akt Signaling Pathway Open
Asthma is a chronic inflammatory respiratory disease that affects millions globally and poses a serious public health challenge. Current therapeutic strategies, including corticosteroids, are constrained by variable patient responses and a…
View article: P030 Sex hormones and blood metabolites mediating the causal associations between gut microbiota and prostate cancer: Evidences from mendelian randomization study
P030 Sex hormones and blood metabolites mediating the causal associations between gut microbiota and prostate cancer: Evidences from mendelian randomization study Open
View article: SMC3 contributes to heart development by regulating super-enhancer associated genes
SMC3 contributes to heart development by regulating super-enhancer associated genes Open
Abnormal cardiac development has been observed in individuals with Cornelia de Lange syndrome (CdLS) due to mutations in genes encoding members of the cohesin complex. However, the precise role of cohesin in heart development remains elusi…
View article: Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants Open
Background This study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS). Methods This study involved the collection and analysis of clinical data from an individual with sporadic KS…
View article: Research on the coupling and coordinated development of forest economic and ecological environment systems in Heilongjiang Province
Research on the coupling and coordinated development of forest economic and ecological environment systems in Heilongjiang Province Open
The coupling coordination degree model is used to analyze the change law of the inherent coupling relationship between the forest economy and the ecological environment system in Heilongjiang Province from 2006 to 2018 and its causes. The …
View article: <i>WDR62</i> variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation
<i>WDR62</i> variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation Open
Background Congenital heart disease (CHD) is the most common birth defect and has high heritability. Although some susceptibility genes have been identified, the genetic basis underlying the majority of CHD cases is still undefined. Method…
View article: Exosomes and autophagy in ocular surface and retinal diseases: new insights into pathophysiology and treatment
Exosomes and autophagy in ocular surface and retinal diseases: new insights into pathophysiology and treatment Open
View article: Exosomes From Human Umbilical Cord Mesenchymal Stem Cells Treat Corneal Injury via Autophagy Activation
Exosomes From Human Umbilical Cord Mesenchymal Stem Cells Treat Corneal Injury via Autophagy Activation Open
Corneal injury (CI) affects corneal integrity and transparency, deteriorating the patient’s quality of life. This study aimed to explore the molecular mechanisms by which exosomes secreted from human umbilical cord mesenchymal stem cells (…
View article: Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing
Expression Profiles of Exosomal MicroRNAs Derived from Cerebrospinal Fluid in Patients with Congenital Hydrocephalus Determined by MicroRNA Sequencing Open
Purpose. Congenital hydrocephalus is one of the most common birth defects worldwide. Exosomal microRNAs (miRNAs) in body fluids have been implicated in many diseases. However, their involvement in cerebrospinal fluid from congenital hydroc…
View article: Selectively targeting disease‐restricted secretogranin III to alleviate choroidal neovascularization
Selectively targeting disease‐restricted secretogranin III to alleviate choroidal neovascularization Open
Choroidal neovascularization (CNV), a leading cause of blindness in the elderly, is routinely treated with vascular endothelial growth factor (VEGF) inhibitors that have limited efficacy and potentially adverse side effects. An unmet clini…
View article: [Novel duplication mutation of <i>EYA1</i> causes branchio-oto-renal syndrome in a Chinese family].
[Novel duplication mutation of <i>EYA1</i> causes branchio-oto-renal syndrome in a Chinese family]. Open
Objective:To identify novel genetic causes of branchio-oto-renal （BOR） syndrome in a Chinese family. Methods:Clinical characteristics and treatment of a family with a BOR syndrome were retrospectively analyzed. Genetic analys…
View article: Synthetic retinal ganglion cell image generation for deep-learning-based neuronal tracing
Synthetic retinal ganglion cell image generation for deep-learning-based neuronal tracing Open
View article: Effectiveness of a Multimodal Intervention using Movement, Mental Exercise and Dietary Approaches on Children with Specific Learning Difficulties
Effectiveness of a Multimodal Intervention using Movement, Mental Exercise and Dietary Approaches on Children with Specific Learning Difficulties Open
View article: Hypermethylation‐mediated down‐regulation of lncRNA TBX5‐AS1:2 in Tetralogy of Fallot inhibits cell proliferation by reducing <i>TBX5</i> expression
Hypermethylation‐mediated down‐regulation of lncRNA TBX5‐AS1:2 in Tetralogy of Fallot inhibits cell proliferation by reducing <i>TBX5</i> expression Open
Tetralogy of Fallot (TOF) is the most common complex congenital heart disease (CHD) with uncertain cause. Although long non‐coding RNAs (lncRNAs) have been implicated in heart development and several CHDs, their role in TOF is not well und…
View article: Two novel <i>ANK1</i> loss‐of‐function mutations in Chinese families with hereditary spherocytosis
Two novel <i>ANK1</i> loss‐of‐function mutations in Chinese families with hereditary spherocytosis Open
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In thi…
View article: The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish
The roles of SMYD4 in epigenetic regulation of cardiac development in zebrafish Open
SMYD4 belongs to a family of lysine methyltransferases. We analyzed the role of smyd4 in zebrafish development by generating a smyd4 mutant zebrafish line (smyd4L544Efs*1) using the CRISPR/Cas9 technology. The maternal and zygotic smyd4L54…
View article: The Novel Pathogenic Mutation c.849dupT in <i>BRCA2</i> Contributes to the Nonsense-Mediated mRNA Decay of <i>BRCA2</i> in Familial Breast Cancer
The Novel Pathogenic Mutation c.849dupT in <i>BRCA2</i> Contributes to the Nonsense-Mediated mRNA Decay of <i>BRCA2</i> in Familial Breast Cancer Open
In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutati…
View article: Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation
Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation Open
View article: 临床路径在脑卒中康复护理中的应用效果
临床路径在脑卒中康复护理中的应用效果 Open
目的 临床路径在脑卒中偏瘫患者康复护理中的效果评价。方法 选取本科2016年1—6月脑卒中患者60例随机分为干预组和对照组，对照组病人给予常规宣教，治疗组病人按照临床路径时间表给予针对性的宣教，对病人的临床路径效果进行三次Barthe评分、简化Fugl-Meyer运动功能评分法。结果 经过康复护理两组的Barthe评分、简化Fugl-Meyer运动功能评分均有所提高，但治疗组效果更为显著。比较差异有统计学意义( P <0.05)。结论 依据Barthe评分、简化Fu…
View article: Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss Open