A5025610773- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Hedgehog Signaling Pathway Studies
- Adipose Tissue and Metabolism
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Tumors and Oncological Cases
- RNA and protein synthesis mechanisms
- Bacterial Genetics and Biotechnology
- Pancreatic function and diabetes
- Lysosomal Storage Disorders Research
- Adipokines, Inflammation, and Metabolic Diseases
- Sexual Differentiation and Disorders
- Congenital Ear and Nasal Anomalies
- Neurogenetic and Muscular Disorders Research
- Receptor Mechanisms and Signaling
- RNA modifications and cancer
- Erythrocyte Function and Pathophysiology
- Vitamin C and Antioxidants Research
- Lipid Membrane Structure and Behavior
- Retinoids in leukemia and cellular processes
Shenzhen Institutes of Advanced Technology
2025
Chinese Academy of Sciences
2025
Children's Hospital of Zhejiang University
2015-2024
Zhejiang University
2008-2024
National Clinical Research
2020-2024
Hangzhou Children's Hospital
2023
Xiamen University
2023
Jimei University
2019-2021
Second Military Medical University
2014-2020
Changhai Hospital
2014-2020
A DNA sequence rich in (A+T), located upstream of the -10, -35 region Escherichia coli ribosomal RNA promoter rrnB P1 and called UP element, stimulates transcription by a factor 30 vivo, as well vitro absence protein factors other than polymerase (RNAP). When fused to promoters, such lacUV5, element also transcription, indicating that it is separable module. Mutations carboxyl-terminal α subunit RNAP prevent stimulation these promoters although mutant enzymes are effective transcribing...
The TGF-β family ligands myostatin, GDF11, and activins are negative regulators of skeletal muscle mass, which have been reported to primarily signal via the ActRIIB receptor on thereby induce wasting described as cachexia. Use a soluble ActRIIB-Fc "trap," block myostatin pathway signaling in normal or cachectic mice leads hypertrophy prevention loss, perhaps suggesting that is responsible for growth regulation. Genetic evidence demonstrates however both ActRIIB- ActRIIA-deficient display...
FGF19 signaling through the FGFR4/β-klotho receptor complex has been shown to be a key driver of growth and survival in subset hepatocellular carcinomas, making selective FGFR4 inhibition an attractive treatment opportunity. A kinome-wide sequence alignment highlighted poorly conserved cysteine residue within ATP-binding site at position 552, two positions beyond gate-keeper residue. Several strategies for targeting this identify inhibitor starting points are summarized which made use both...
AIM:To investigate the effect of lifestyle intervention on non-alcoholic fatty liver disease (NAFLD) in Chinese obese children. METHODS:Seventy-six children aged from 10 to 17 years with NAFLD were enrolled for a one-month and divided randomly into three groups.Group1, consisting 38 children, was an untreated control group without any intervention.Group 2, 19 summer camp, strictly controlled only by life style 3, received oral vitamin E therapy at dose 100 mg/d.The height, weight, fasting...
Summary The C ‐terminal region (amino acid residues 236–329) of the Escherichia coli RNA polymerase α subunit carries contact site I for positive transcription factors. For detailed mapping cAMP receptor protein (CRP), we made a library mutant rpoA by chain reaction (PCR) mutagenesis, such that each should carry single mutation on average and exclusively in half gene, then screened this mutants with decreased expression lacZ gene. Reconstituted holoenzyme containing subunits transcribed...
The carbohydrate-insulin model predicts that meals with varying glycemic indices will elicit distinct metabolic and hunger responses, including greater intake at subsequent following high-glycemic-index meals. To test this, a randomized trial (NCT05804942) was conducted in healthy adults using intervention low, medium, high constant macronutrient composition. After of the meals, glucose insulin followed predicted pattern, but subjective did not. At group level, low index led to lower energy...
To investigate the role of ghrelin and obestatin in obesity mechanisms.A total 88 obese children 25 normal were enrolled. Moreover, 46 took part a summer camp for weight reduction. Fasting ghrelin, other biochemical parameters measured all subjects re-measured 45 finishing camp.The levels control groups 67.26 +/- 23.41 pmol/L 56.53 15.97 with significant difference (p = 0.039), while (89.41 23.63 vs. 83.13 17.21 pmol/L) not significantly different 0.083). The ghrelin/obestatin ratio controls...
We have previously demonstrated that upregulation of Sonic hedgehog (SHH) expression in allergic airway epithelia essentially contributes to the goblet cell metaplasia and mucous hypersecretion. However, mechanism underlying SHH remains completely unknown. In cultured human epithelial cells, IL-4/IL-13 but not IL-5 robustly induces mRNA protein turn activates signaling by promoting JAK/STAT6-controlling transcription gene. Moreover, intratracheal instillation IL-4 and/or IL-13 STAT6...
The Escherichia coli OxyR protein requires the C-terminal contact site I region of RNA polymerase alpha subunit for cooperative interaction with and transcription activation at OxyR-dependent promoters, suggesting direct protein-protein between subunit. To determine precise location site(s) in this region, we carried out mutational analysis 3' half E. rpoA, gene encoding polymerase. We isolated a number rpoA mutants defective oxyR-dependent katG promoter. Nucleotide sequence from these...
Summary The effects of a number mutations in crp have been measured at different cyclic AMP receptor protein (CRP)‐dependent Class II promoters, where the CRP‐binding site is centred around 411/2 base pairs upstream from transcription start point. amino acid substitutions HL159 and TA158 result reduced CRP‐dependent activation, but reduction varies one promoter to another. Deletions C ‐terminus RNA polymerase alpha subunit suppress TA158. role these promoters assessed. Other changes E58, K52...
A diverse range of selective FGFR4 inhibitor hit series were identified using unbiased screening approaches and by the modification known kinase scaffolds. In each case origin selectivity was consistent with an interaction a poorly conserved cysteine residue within middle-hinge region domain FGFR4, at position 552. Targeting this non-covalent diaminopyrimidine differentiating size, irreversible-covalent in which Cys552 undergoes SNAr reaction 2-chloropyridine, reversible-covalent forms...
Abstract Sonic hedgehog (Shh) functions as a conserved morphogen in the development of various organs metazoans ranging from Drosophila to humans. Here, we have investigated potential roles and underlying mechanisms Shh signaling murine placentation. Immunostaining revealed abundant expression main components pathway both trophectoderm blastocysts developing placentas. Disruption led impaired vascularogenesis yolk sac, less branching malformation placental labyrinth, thereby leading robust...
Abstract The genotype–phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and characteristics different genotypes children. We aimed to explore influence specific gene changes on symptoms value early screening intervention condition. All data this study were extracted from database XiaoPang Weili Rare Disease Care Center. collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth...
Abstract Objective To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining physical characteristics genetic makeup pediatric patients. Methods In this group, 26 were diagnosed sitosterolemia, 24 whom underwent analysis. Patient family medical history, symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol cardiac/carotid artery ultrasounds, fundus examinations, treatment collected. Results The majority...
Abstract Background Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, transient hypocalcemia. It caused variants in FAM111A gene. Diagnosis of KCS2 can be challenging because its similarities to other syndromes, the absence clear hallmarks deficient number genetically confirmed cases. Here, we aimed further delineate summarize genotype phenotype KCS2, order get a better...
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) lysosome. The storage of GAGs leads involvement several systems and even death patient. In recent years, an increasing number therapies have increased treatment options available patients. Early is beneficial improving prognosis, but children with MPSs often delayed their diagnosis. Therefore, there urgent need develop method for early screening diagnosis disease. Tandem mass...
Inhibin is a heterodimeric peptide hormone produced in the ovary that antagonizes activin signaling and FSH synthesis pituitary. The inhibin β-subunit interacts with type II receptor (ActRII) to functionally antagonize activin. α-subunit mature domain (N terminus) arose relatively early during evolution of hormone, function decreased by an antibody directed against N-terminal extension region or deletion region. We hypothesized I (ALK4) Human chicken free inhibited pituitary...