A5067519867- Pharmaceutical and Antibiotic Environmental Impacts
- Genomic variations and chromosomal abnormalities
- Antibiotic Resistance in Bacteria
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Antimicrobial agents and applications
- Metabolism and Genetic Disorders
- Renal and related cancers
- Congenital heart defects research
- Antibiotics Pharmacokinetics and Efficacy
- Blood disorders and treatments
- Cerebrovascular and genetic disorders
- Epilepsy research and treatment
- Microplastics and Plastic Pollution
- Infectious Encephalopathies and Encephalitis
- Effects and risks of endocrine disrupting chemicals
- Reproductive System and Pregnancy
- Galectins and Cancer Biology
- Chromosomal and Genetic Variations
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- Acute Myeloid Leukemia Research
- Cardiac Health and Mental Health
- Amino Acid Enzymes and Metabolism
Maternal and Child Health Hospital of Sichuan Province
2022-2025
Chengdu University of Traditional Chinese Medicine
2025
Chengdu Women's and Children's Central Hospital
2024
Chengdu Medical College
2024
Yangzhou University
2023-2024
The prevalence and spread of multidrug-resistant (MDR) bacteria pose a global challenge to public health. Natural transformation is one the essential ways for horizontal transfer antibiotic resistance genes (ARGs). Although disinfectants are frequently used during COVID-19, little known about whether these associated with plasmid-borne ARGs. In our study, we assessed effect some on bacterial using plasmids as extracellular DNA E. coli DH5α recipient bacteria. results showed that at...
Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, HPA identified only through newborn screening for diseases. It important to distinguish BH4 from phenylketonuria (PKU, MIM # 261600). Timely diagnosis treatment are crucial prognosis patients.
List of key features High nasal bridge Short stature Micrognathia Seizure Introduction The loss function PCNT is the cause microcephalic osteosplastic primary dwarfism type II (MOPD II, MIM 605925) (Ain et al., 2021). Since first report in 2008 (Rauch 2008), over 150 cases MOPD have been documented, including ten observations China, suggesting that this an extremely rare condition. disorder characterized by distinct such as a high palate, prominent bridge, and bird-like facial profile (Hall...
The antibiotic resistance crisis has seriously jeopardized public health and human safety. As one of the ways horizontal transfer, transformation enables bacteria to acquire exogenous genes naturally. Bisphenol compounds are now widely used in plastics, food, beverage packaging, have become a new environmental pollutant. However, their potential relationship with spread (ARGs) environment remains largely unexplored. In this study, we aimed assess whether ubiquitous bisphenol S (BPS) could...
Abstract The emergence and prevalence of plasmid-encoded RND-type efflux pump TMexCD-TOprJ severely compromise tigecycline treatment, which is recognized as the last resort for multidrug-resistant (MDR) Gram-negative bacterial infections. There an urgent need rapid antibiotic susceptibility testing (AST) that can simultaneously identify genotype phenotype tmexCD-toprJ -positive bacteria. Through characterizing transcriptional profiling responses -negative strains after exposure to 2 μg/mL...
Familial focal epilepsy with variable foci 2 (FFEVF2; MIM:617116), also known as NPRL2-associated epilepsy, is caused by pathogenic heterozygous variations in the NPRL2 gene and a relatively new autosomal dominant disorder discovered recent years. It characterized seizures originating different cortical regions of brain, including temporal, frontal, parietal, occipital lobes. In this study, we present pedigree analysis FFEVF2 induced novel frameshift variation c.907delC (p.Gln303Serfs*11)....
Abstract Background MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It characterized by delayed or absent speech development, severe motor and cognitive impairment, recurrent respiratory infections. MDS caused the of chromosomal region located on chromosome Xq28, which contains methyl CpG binding protein-2 ( ) gene. functions as transcriptional repressor activator, regulating genes associated with nervous system development. The objective...
Zhu, Hui; Shuyao; Wang, Qiyan; Lijuan; Jiang, Qiong; Hu, Yuhang; Huang, Yu; Zeng, Lan; Luo, Zemin Author Information
Abstract The hypothalamic–pituitary–gonadal axis (HPG) is the key neuroendocrine involved in reproductive regulation. Brain and muscle ARNT‐like protein 1 (Bmal1) participates regulating metabolism of various endocrine hormones. However, regulation Bmal1 on HPG female fertility unclear. This study aims to explore reproduction by via mice. ‐knockout (Ko) mice were generated using CRISPR/Cas9 technology. structure, function, estrous cycle ovarian Ko measured. genes proteins examined through...
Cao, Min; Dan, Tang; Nie, Xiaocheng; Tang, Biao; Zeng, Lan; Pi, Guanghuan; Chen, Ai; Luo, Hongquan; Zhu, Shuyao Author Information
ABSTRACT Background Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods In this study, we conducted peripheral blood G‐banding karyotyping and whole‐exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, other multisystem anomalies. Additionally, was also carried out proband's parents brother. Results The 7‐month‐old found have 26.738 Mb 4p15.33‐p14 as identified by WES....
Abstract We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, displayed distinct clinical phenotypes, suggesting presence of non‐genetic factors influencing phenotypic variability this This represents first documented instance prenatally identified identical affected by
Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV). The primary clinical phenotypes associated with this syndrome include abnormal facial morphology, global developmental delay (GDD), short stature, and reported predisposing factors for atypical behavior, autism, the development of learning disabilities, neuropsychiatric disorders. dosage-sensitive genes are not disclosed preventing to establish genotype-phenotype correlation. We report case Chinese patient...
Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autoregulatory factor-1 homology. VSVS characterized mild to severe intellectual disability (ID) and/or global developmental delay (GDD), seriously limited language expression, behavioral abnormalities, somnipathy, and reduced pain sensitivity. In this...
Abstract Background Noonan syndrome (NS) due to the RRAS2 gene, pathogenic variant is an extremely rare RASopathies. Our objective was identify potential site of , combined with literature review, find correlation between clinical phenotype and genotype. De novo missense mutations affect different aspects function, leading hyperactivation RAS‐MAPK signaling cascade. Methods Conventional G‐banding used analyze chromosome karyotype patient. Copy number variation sequencing (CNV‐seq) detect...
Abstract Background: MECP2 duplication syndrome (MDS), a rare X-linked genomic disorder affecting predominantly males, characterized by delayed or absent speech development, severe motor and cognitive impairment recurrent respiratory infections, is caused of the chromosomal region located on chromosome Xq28, containing methyl CpG binding protein-2 ( ) gene. acts as transcriptional repressor activator regulating genes related to nervous system development. The objective study adds clinical...