A5100318091- melanin and skin pigmentation
- Biochemical Analysis and Sensing Techniques
- Genomic variations and chromosomal abnormalities
- Inflammasome and immune disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Skin Protection and Aging
- Cellular transport and secretion
- Retinal Development and Disorders
- Hearing, Cochlea, Tinnitus, Genetics
- Neural dynamics and brain function
- Advanced Fluorescence Microscopy Techniques
- Hearing Loss and Rehabilitation
- Cell Adhesion Molecules Research
- Olfactory and Sensory Function Studies
- MicroRNA in disease regulation
- Genetic factors in colorectal cancer
- Extracellular vesicles in disease
- Calcium signaling and nucleotide metabolism
- Circular RNAs in diseases
- Bacillus and Francisella bacterial research
Tianjin Medical University General Hospital
2025
Tongji Hospital
2025
Huazhong University of Science and Technology
2025
First Affiliated Hospital of Gannan Medical University
2025
Gannan Medical University
2025
Beijing Children’s Hospital
2016-2024
Capital Medical University
2013-2024
Zhengzhou Children's Hospital
2019-2024
Zhengzhou University
2022-2024
Beijing Anzhen Hospital
2024
Abstract Obesity is associated with an increased risk of developing breast cancer and also worse clinical prognosis. The mechanistic link between obesity progression remains unclear, there has been no development specific treatments to improve the outcome obese patients. Here we show that obesity-associated NLRC4 inflammasome activation/ interleukin (IL)-1 signalling promotes progression. tumour microenvironment in context induces increase tumour-infiltrating myeloid cells activated turn...
Abstract Ischemic heart disease, especially myocardial infarction (MI), is one of the leading causes death worldwide, and desperately needs effective treatments, such as cell therapy. Cardiopulmonary progenitors (CPPs) are stem cells for both lung, but their repairing role in damaged still unknown. Here, we obtained CPPs from E9.5 mouse embryos, maintained stemness while expanding, identified characteristics by scRNA‐seq, flow cytometry, quantitative reverse transcription‐polymerase chain...
KEY POINTS On Mar. 11, 2020, the World Health Organization (WHO) declared coronavirus disease 2019 (COVID-19) a pandemic. The worldwide spread of COVID-19 represents profound threat to human health. Patients with present primarily fever, cough, and myalgia or fatigue, sometimes
Abstract Autism spectrum disorder (ASD) affects 1–2% of all children and poses a great social economic challenge for the globe. As highly heterogeneous neurodevelopmental disorder, development its treatment is extremely challenging. Multiple pathways have been linked to pathogenesis ASD, including signaling involved in synaptic function, oxytocinergic activities, immune homeostasis, chromatin modifications, mitochondrial functions. Here, we identify secretagogin ( SCGN ), regulator...
Abstract Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore Channel 2 (TPC2) from patient with albinism. TPC2 an endolysosome melanosome localized non-selective cation channel involved regulating pigment production. Through inside-out recording plasma membrane targeted direct enlarged endolysosomal vacuoles, reveal that R210C mutant displays constitutive activation...
Diabetic nephropathy (DN) is the leading cause of end-stage kidney disease worldwide but current treatments remain suboptimal. The role inflammation in DN has only recently been recognized. It shown that NLRP3-inflammasome contributes to development by inducing interleukin (IL)-1β processing and secretion. In an effort understand other IL-1β activating mechanism during development, we examined NLRC4-inflammasome found NLRC4 a parallel mechanism, addition NLRP3-inflammasome, induce pro-IL-1β...
Gene expression profiling is widely used in basic and cancer research but still not feasible many clinical applications because tissues, such as brain samples, are difficult ethnical to collect. uncollected tissues can be computationally inferred using genotype quantitative trait loci. No methods infer unmeasured gene of multiple with single tissue profile input.Here, we present a Bayesian ridge regression-based method (B-GEX) profiles from blood profile. For each tissue, low-dimensional...
Left–right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as primary contributor. This study aims to explore the underpinnings of chromosomal variants and individual genes in fetuses afflicted prenatal LR disorder. Through retrospective analysis conducted between 2020 2023 at Tongji Hospital, Huazhong University Science Technology, outcomes asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) whole exome (WES)...
At present, most of the targeted imaging based on insulin-like growth factor 1 receptor (IGF-1R) is for tumor research, and there no IGF-1R-targeted Graves' ophthalmopathy(GO). This study aims to develop a peptide probe, 99mTc-ZIGF1R:4551-GGGC, targeting IGF-1R, achieve specific in disease (GD) animal models exhibiting GO. 99mTc-ZIGF1R:4551-GGGC probe was synthesized using direct labeling method its efficiency assessed via instant thin-layer chromatography (ITLC). Western blot analysis...
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome-related organelles. The Hps3, Hps5, and Hps6 genes are mutated in the cocoa, ruby-eye-2, ruby-eye mouse pigment mutants, respectively, their human orthologs HPS3, HPS5, HPS6 patients. These three encode novel proteins of unknown function. phenotypes Hps5/Hps5,Hps6/Hps6 Hps3/Hps3,Hps6/Hps6 double mutant mice mimic, coat eye colors, melanosome ultrastructure, levels...
Different newborn screening (NBS) programs have been practiced in many countries since the 1960s. It is of considerable interest whether next-generation sequencing applicable NBS. We developed a panel 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases our Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies 8 Women Children's hospitals nationwide China retrospectively. The positive rate from...
Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles. Ten HPS subtypes have been identified with mutations HPS1 HPS10. Only four patients HPS-1 reported Chinese population. Using next-generation sequencing (NGS), we screened 100 hypopigmentation genes HPS-1, two HPS-3, one HPS-5, three HPS-6 typical ocular or oculocutaneous albinism the absence of platelet...
Tuberculosis (TB), caused by the infection of Mycobacterium tuberculosis (MTB), is one leading causes death worldwide, especially in children. However, mechanisms which MTB infects its cellular host, activates an immune response, and triggers inflammation remain unknown. Mitochondria play important roles initiation activation nucleotide-binding oligomerization domain-like receptor with a pyrin domain 3 (NLRP3) inflammasome, where mitochondria-associated endoplasmic reticulum membranes (MAMs)...
Abstract Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum gLEs varies among patients different ages. Distinct from the relatively more abundant studies in children, only few that explore adult have been published, and it should be noted majority these excluded certain gLEs. Thus, to date, no large study has designed conducted characterize phenotypic spectra patients. We recruited consecutive series 309 clinically suspected Beijing...
Hermansky–Pudlak Syndrome (HPS) is a group of related multigenic recessively inherited disorders which causes abnormalities in the biosynthesis and/or function three organelles; melanosomes, platelet‐dense granules and lysosomes. These lead, turn, to hypopigmentation, prolonged bleeding ceroid deposition. Positional cloning strategies have identified five mouse HPS genes. Two orthologous human diseases (HPS1 HPS2) likewise been identified. At least four genes encode proteins involved...
Nitrogen and phosphorous co-doped Co 9 S 8 was in situ synthesized on cobalt foam, it can efficiently electrolyze full water splitting.
Klebsiella pneumoniae (Kpn) is an important pathogen of hospital-acquired pneumonia, which can lead to sepsis and death in severe cases. In this study, we simulated pneumonia induced by Kpn infection mice investigate the therapeutic effect naringin (NAR) on bacterial-induced lung inflammation. Mice infected with exhibited increases white blood cells (WBC) neutrophils peripheral pathological injury lungs. This was manifested increased expression inflammatory cytokines interleukin (IL)- 18,...
Dilated cardiomyopathy (DCM) is the most common with a presentation of heart failure. It has been reported that CASZ1 loss-of-function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in have previously worldwide.To identify causative variant an 11-month-old Chinese boy left noncompaction (LVNC), trio-whole-exome sequencing was performed followed by mutational analysis Sanger sequencing.An unreported de novo...
We present a bimodal endocytic tracer, fluorescent BSA-gold (fBSA-Au), as fiducial marker for 2D and 3D correlative light electron microscopy (CLEM) applications. fBSA-Au consists of colloidal gold (Au) particles stabilized with BSA. The conjugate is efficiently endocytosed distributed throughout the endolysosomal network cells has an excellent visibility in both fluorescence (FM) (EM). demonstrate that facilitates rapid registration several CLEM applications using Tokuyasu cryosections,...