A5111568948- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Platelet Disorders and Treatments
- Neonatal Health and Biochemistry
- Thyroid Disorders and Treatments
- Blood groups and transfusion
- Blood disorders and treatments
- Cell Adhesion Molecules Research
- Cancer, Hypoxia, and Metabolism
- Biochemical and Molecular Research
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- RNA modifications and cancer
- Skin Protection and Aging
- RNA Research and Splicing
- Heparin-Induced Thrombocytopenia and Thrombosis
- Thyroid Cancer Diagnosis and Treatment
- Neuroendocrine Tumor Research Advances
- Viral-associated cancers and disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Monoclonal and Polyclonal Antibodies Research
- Diabetes Treatment and Management
- Cytomegalovirus and herpesvirus research
- Chronic Kidney Disease and Diabetes
Union Hospital
2025
Huazhong University of Science and Technology
2025
Xiamen University
2025
Albert Einstein College of Medicine
2025
Peking University
1992-2024
Peking University First Hospital
2017-2024
The Fifth People’s Hospital of Suzhou
2024
Beijing Fengtai Hospital
2024
The First People's Hospital of Wenling
2017-2024
Peking Union Medical College Hospital
2022-2023
The pathogenesis of atopic dermatitis (AD) is closely linked to both genetic and environmental factors, with patients often exhibiting a range immunological abnormalities, including pronounced Th2-type overreaction, which key feature the disease. Cutibacterium acnes has been shown induce robust Th1 immune response through intraperitoneal injections, potentially preventing development AD. In this study, novel nanoparticulate formulation (NFCA) was developed optimization for dermal delivery....
Accelerated protein glycation in diabetes has been mechanistically linked to the pathogenesis of diabetic nephropathy. Because glycated albumin induces abnormalities cultured mesangial cells that resemble those characterizing glomerular mesangium diabetes, and monoclonal antibodies (A717) specific for Amadori-modified prevent these abnormalities, we postulated vivo administration A717 could retard progression To test this hypothesis, db/db mice their nondiabetic db/m littermates were treated...
BACKGROUND : The study of the immunogenetics human platelet antigens is important to improvement diagnosis and genetic counseling development screening programs for women at risk having babies with neonatal alloimmune thrombocytopenia. Description in some racial groups has been incomplete. STUDY DESIGN AND METHODS A reverse dot blot technique employing polymerase chain reaction‐ amplified genomic DNA was applied genotyping five major following populations: 100 African American white admitted...
Background/Aims Accumulating evidence indicates that L-carnitine (LC) protects against multiorgan damage through its antioxidant properties and preservation of the mitochondria. Little information is available about effects LC on renal fibrosis. This study examined whether treatment would provide renoprotection in a rat model unilateral ureteral obstruction (UUO) vitro. Methods Sprague-Dawley rats underwent UUO were treated daily with for 7 or 14 days. The influence injury caused by was...
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of GP(IIIa) exon 9 splice donor site. Patient transcripts lacked despite normal DNA sequence all cis-acting sequences known to regulate site selection. In vitro analysis generated mini-gene constructs demonstrated that skipping occurred...
Objective: To analyz the current situation of diagnosis, treatment and prevention methylmalonic acidemia, phenotypes, biochemical features genotypes patients in mainland China, were investigated. Methods: Tottally 1 003 acidemia from 26 provinces municipalities China enrolled. The clinical data, gene mutations studied. Blood aminoacids acylcarnitines, urine organic acids, plasma total homocysteine determined for diagnosis. Gene analyses performed genetic study 661 patients. treated with...
Abstract Background Cobalamin C deficiency ( cblC ) caused by the MMACHC mutations is most common type of disorders intracellular cobalamin metabolism. While c.609G > A mutation frequent in Chinese patients, its correlation with phenotype has not been delineated. Here we aim to investigate factors affecting variable phenotypes and outcomes associated homologous 149 cases have implications for treatment prevention. Methods We assessed patients homozygous mutation. The clinical...
RNA-binding motif 47 (RBM47) is a recently identified protein involved in early vertebrate development, immune homeostasis, and cancer development. This study examined the biological functions of RBM47 thyroid-associated ophthalmopathy (TAO). Orbital fibroblasts (OFs) were obtained from control (n = 6) TAO groups 6). Protein gene expression samples investigated using immunohistochemistry, western blotting (WB), RT-PCR. OFs with knockdown established small interfering RNA. Subsequently, Oil...
Predicting the timing and occurrence of events is a major focus data science applications, especially in context biomedical research. Performance for models estimating these outcomes, often referred to as time-to-event or survival frequently summarized using measures discrimination, particular time-dependent AUC concordance. Many estimators quantities have been proposed which can be broadly categorized either semi-parametric non-parametric estimators. In this paper, we review mathematical...
Abstract Background Although gait speed typically declines with age, some individuals manage to maintain higher walking speeds well into older age. To better understand healthy longevity, we propose a novel exceptional aging phenotype of super movers, 80 years or comparable three decades younger. Methods We conducted retrospective cohort study examine the epidemiology and determinants mover status as mortality, biological trajectories movers compared age peers identified from 15 studies...
Abstract: Neonatal alloimmune thrombocytopenia (NATP) and post‐transfusion purpura (PTP) are acquired bleeding disorders caused by thrombocytopenia. In most cases, the is due to an alloantibody directed against platelet glycoprotein IIb‐IIIa (GPIIb‐IIIa) complex. During course of routine studies on role GPIIb‐IIIa in inherited thrombotic disorders, we unexpectedly identified individual whose platelets reacted non‐reduced Western blot analysis with anti‐GPIIIa polyclonal antisera, but did not...
Monoamine oxidase (MAO) is a critical metabolic enzyme of dopamine, which key neurotransmitter the mesolimbic reward pathway in human brain. Consequently, gene encoding MAO an important candidate genetics smoking behaviour. We investigated association between MAOA polymorphisms (a VNTR polymorphism and EcoRV polymorphism) status. A community-based cross-sectional study was conducted with 203 current subjects 168 non-current Beijing, China. Genotyping for these performed using PCR restriction...
A stable clone of rat mesangial cells expressing antisense GLUT-1 (i.e., MCGT1AS cells) was developed to protect them from high glucose exposure. protein reduced 50%, and the 2-deoxy-[ 3 H]glucose uptake rate 33% in MCGT1AS. MCLacZ control MCGT1 GLUT-1-overexpressing were used for comparisons. In MCLacZ, 20 mMd-glucose increased transcription 90% vs. no increase Glucose (8 mM) 12 mM xylitol [a hexose monophosphate (HMP) shunt substrate] did not stimulate transcription. An 87% replacement...
Abstract Background Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded PCCA and PCCB genes. The aim study was to investigate clinical features outcomes, molecular epidemiology phenotype-genotype relationship in Chinese population. Methods We conducted retrospective 60 patients diagnosed at Peking University First Hospital from 2007 2020. Their laboratory data were reviewed. next-generation sequencing on blood...
To analyze the clinical characteristics of patients with hydrocephalus secondary to cobalamin C (cblC) deficiency and discuss optimal strategies for assessing treating such by performing laboratory studies in 70 patients.A total 1,211 were clinically diagnosed methylmalonic acidemia (MMA) from 1998 2019. Among them, cblC was confirmed brain imaging biochemical genetic analysis.Of patients, 67 (95.7%) had early-onset MMA homocystinuria. The typically high blood propionylcarnitine...
Abstract Background Clinicians traditionally aim to identify a singular explanation for the clinical presentation of patient; however, in some cases, diagnosis may remain elusive or fail comprehensively explain findings. In recent years, advancements next-generation sequencing, including whole-exome have led incidental identification dual diagnoses patients. Herein we present cases five pediatric patients diagnosed with rare genetic diseases. Their natural history and diagnostic process were...
<b><i>Background:</i></b> Leflunomide (LEF) and benazepril have renoprotective effects on diabetic nephropathy (DN) through their anti-inflammatory anti-fibrotic activities. This study investigated whether combined treatment using LEF affords superior protection compared with the respective monotherapies. <b><i>Methods:</i></b> Diabetes was induced streptozotocin (STZ, 65 mg/kg) by intraperitoneal injection in male Wistar rats. Two weeks after...
Abstract Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose this study to investigate clinical features late-onset explore diagnosis management strategies around puberty. Results This included 56 (35 males 21 females) who were admitted our clinic between 2002 September 2021. was confirmed by metabolic genetic tests. biochemical features, disease...