A5101880989- dental development and anomalies
- Oral and Maxillofacial Pathology
- Bone and Dental Protein Studies
- Alzheimer's disease research and treatments
- Cancer-related gene regulation
- Hedgehog Signaling Pathway Studies
- Cleft Lip and Palate Research
- Cancer-related molecular mechanisms research
- Bone Metabolism and Diseases
- RNA modifications and cancer
- MXene and MAX Phase Materials
- Bone health and treatments
- Neurogenesis and neuroplasticity mechanisms
- Epigenetics and DNA Methylation
- Neuroinflammation and Neurodegeneration Mechanisms
- Dementia and Cognitive Impairment Research
- Advanced Battery Materials and Technologies
- Neurological Disease Mechanisms and Treatments
- Renin-Angiotensin System Studies
- Multimodal Machine Learning Applications
- Medical Imaging and Pathology Studies
- Cancer Genomics and Diagnostics
- Sexual Differentiation and Disorders
- Mathematical Biology Tumor Growth
- Congenital limb and hand anomalies
China Pharmaceutical University
2016-2025
National Clinical Research Center for Digestive Diseases
2019-2024
Peking University
2015-2024
Stomatology Hospital
2017-2021
Xi’an Children’s Hospital
2019-2021
King University
2017
The risk of diabetic cardiovascular complications is closely linked to the length hyperglycemia exposure. Mitophagy plays a significant role in vascular endothelial injury. However, specific mechanisms by which mitophagy contributes injury during sustained remain unclear. In ApoE-/- mice and human umbilical vein cell (HUVEC) models, enhanced following short-term long-term high-glucose Short-term exposure promotes Parkin-mediated upregulates mitochondrial fission protein 1 (Fis1) expression,...
Abstract The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence these variants. Whole-exome sequencing (WES) Sanger were performed causal five oligodontia, a series bioinformatics databases used for variant confirmation prediction. Phenotypic characterization members described, an vitro analysis evaluation. Five novel heterozygous identified: three missense [c.662A>C (p.Q221P), c.670C>T...
Abstract Human with bi-allelic WNT10A mutations and epithelial Wnt10a knockout mice present enlarged pulp chamber apical displacement of the root furcation multi-rooted teeth, known as taurodontism; thus, indicating critical role in tooth morphogenesis. However, endogenous mechanism by which regulates Hertwig’s sheath (HERS) cellular behaviors contributes to patterning remains unclear. In this study, we found that HERS presumptive furcating region failed elongate at an appropriate horizontal...
Abstract Odonto‐onycho‐dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless‐type MMTV integration site family member 10A ( WNT10A ) gene have been associated with OODD. To date, only 11 OODD‐associated mutations reported. In this report, we Characterized clinical manifestations focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, identified five novel gene, including two...
Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding third molars. may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations have been association with oligodontia. In present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in Chinese individual non-syndromic This results substitution Val at residue 105 for Gly (p.Val105Gly); located highly conserved regulator G protein...
The underlying molecular mechanism of the increased bone mass phenotype in Tricho-dento-osseous (TDO) syndrome remains largely unknown. Our previous study has shown that TDO point mutation c.533A>G, Q178R DLX3 could increase density a patient and transgenic mice partially through delaying senescence marrow mesenchymal stem cells (BMSCs). In present study, we provided new complementary explanation for syndrome: (Q178R) BMSCs proliferation H19/miR-675 axis. We found derived from...
To investigate the mutations in patients with Axenfeld-Rieger syndrome (ARS) and pattern of PITX2-related tooth agenesis.Whole-exome sequencing (WES) copy number variation (CNV) array were used to screen four ARS probands. After Sanger quantitative polymerase chain reaction (qPCR) validation, secondary structure prediction dual-luciferase assay employed functional impact. Eighteen PITX2-mutated definite dental records retrieved from our database literatures, agenesis was analyzed.A novel de...
Recent studies have demonstrated that ectodysplasin-A (EDA) mutations are associated with non-syndromic tooth agenesis. Indeed, we were the first to report three novel EDA (A259E, R289C and R334H) in sporadic We studied mechanism linking agenesis human embryonic kidney 293T cells mouse ameloblast-derived LS8 transfected mutant isoforms of EDA. The receptor binding capability EDA1 protein was impaired comparison wild-type EDA1. Although agenesis-causing mutants possessed residual capability,...
Nonsyndromic oligodontia is a rare congenital anomaly. Mutations in the ectodysplasin A receptor (EDAR) gene are primary cause of hypohidrotic ectodermal dysplasia but rarely reported nonsyndromic oligodontia. This study investigated EDAR mutations multiplex and comparatively analyzed EDAR- EDA-related tooth agenesis patterns. Mutation screening was carried out using whole-exome sequencing familial segregation. Evolutionary conservation conformational analyses were used to evaluate potential...
To investigate pathogenic variants of the paired box 9 (PAX9) gene in patients with non-syndromic oligodontia, and functional impact these variants.Whole exome sequencing Sanger were utilized to detect a cohort 80 diagnosed oligodontia. Bioinformatic conformational analyses, fluorescence microscopy luciferase reporter assay employed explore impact.We identified three novel PAX9, including two frameshift (c.211_212insA; p.I71Nfs*246 c.236_237insAC; p.T80Lfs*6), one missense variant (c.229C >...
The homeodomain transcription factor distal-less homeobox 3 gene (DLX3) is required for hair, tooth and skeletal development. DLX3 mutations have been found to be responsible Tricho-Dento-Osseous (TDO) syndrome, characterized by kinky thin-pitted enamel increased bone density. Here we show that the mutation (c.533 A>G; Q178R) attenuates osteogenic potential senescence of mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing molecular explanation abnormal Both A>G...
Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate (EEC) syndrome and Ankyloblepharon-Ectodermal defects-Cleft (AEC) belong to p63 syndromes, a group of rare disorders exhibiting wide variety clinical manifestations. TP63 mutations have been reported be associated with both EEC AEC.Analysis whole exome sequencing (WES) from patients or AEC Sanger family members.We confirmed that three Chinese pedigrees affected harboring distinct mutation, described novel phenotypes AEC, including the...
Abstract Mild cognitive impairment (MCI) is a precursor phase of Alzheimer’s disease (AD). As current treatments may be effective only at the early stages AD, it important to track MCI patients who will convert AD. The aim this study develop high performance semi-mechanism based approach predict conversion from AD and improve our understanding MCI-to-AD mechanism. First, analysis variance (ANOVA) test lasso regression are employed identify markers related conversion. Then Bayesian network on...
Adaptive therapy exploits the self-organization of tumor cells to delay outgrowth resistant subpopulations successfully. When has aggressive subpopulations, outcome adaptive was not superior maximum tolerated dose (MTD). To explore methods improve therapy's performance this case, system constructed by osimertinib-sensitive and cell lines illustrated Lotka-Volterra model in study. Restore index proposed assess reachability can predict duration each treatment cycle. Then threshold restore...
Deciduous tooth agenesis is a severe craniofacial developmental defect because it affects masticatory function from infancy and may result in delayed growth development. Here, we aimed to identify the crucial pathogenic genes clinical features of patients with deciduous agenesis. We recruited 84 Whole-exome Sanger sequencing were used causative variants. Phenotype–genotype correlation analysis was conducted. identified 54 different variants 8 patients, including EDA (73, 86.9%), PAX9 (2,...
Abstract Emerged evidence indicated that stimulating hippocampal neurogenesis is a potential strategy for restoring cognition in AD. Mitogen‐activated protein kinases (MAPKs) play an essential role neurogenesis. Meanwhile, the enzymatic power of phosphatases much greater than kinases. Dual‐specificity phosphatase 16 (DUSP16), known to as negatively regulate MAPKs, may be implicated neural differentiation. Nevertheless, effect DUSP16 on cognitive disorders by progenitor cell (NPC)...
Hypodontia is one of the most common anomalies human dentition. Recent genetic studies provide information on a number genes related to both syndromic and non‐syndromic forms hypodontia. Fifty putative single nucleotide polymorphisms ( SNP s) in 20 that play important roles tooth development were selected, case–control study was conducted 273 subjects with hypodontia (cases) 200 without (controls). DNA obtained from samples whole blood or saliva. Genotyping performed by matrix‐assisted laser...
Tooth agenesis is one of the most common anomalies human dentition. Recent studies suggest that a number genes are related to both syndromic and non-syndromic forms hypodontia. In previous study, we observed polymorphism in rs929387 GLI3 might be associated with hypodontia Chinese Han population based on limited population. To further confirm this observation, employed 89 individuals diagnosed sporadic oligodontia (40 males 49 females) investigate relationship between tooth agenesis. These...
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. The purpose this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function mutant proteins. DNA samples were prepared from peripheral blood individuals, then subjected sequencing. Conservation secondary structure analysis performed based on sequencing results. pEGFP-C1 plasmids containing GFP-tagged...