A5101717729- Thyroid Disorders and Treatments
- Congenital heart defects research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- melanin and skin pigmentation
- Neonatal Health and Biochemistry
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Biochemical Analysis and Sensing Techniques
- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Growth Hormone and Insulin-like Growth Factors
- Hedgehog Signaling Pathway Studies
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Hippo pathway signaling and YAP/TAZ
- Protein Tyrosine Phosphatases
- Aquaculture disease management and microbiota
- Blood groups and transfusion
- Mast cells and histamine
- Chromosomal and Genetic Variations
Guangxi Maternal and Child Health Hospital
2014-2025
Ningbo University
2025
Guangxi Medical University
2020-2024
Hainan University
2021-2024
Ningxia Academy of Agriculture and Forestry Sciences
2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2024
Sichuan University
2019-2021
State Key Laboratory of Biotherapy
2019-2021
Guangxi Center for Disease Prevention and Control
2015-2018
The Military General Hospital of Beijing PLA
2012-2015
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting coding regions hemoglobin genes four modifier was designed. We validated assay by using 2522 subjects affected with hemoglobinopathies applied it to carrier testing in a cohort 10,111 couples who were also screened through traditional methods. In clinical...
The aim of this study is to assess the disease incidence and mutation spectrum glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, determine an optimal cutoff value identify heterozygous female neonates. A total 130, 635 neonates were screened from year 2013 2017. Neonates suspected for G6PD further analyzed by quantitatively enzymatic assay analysis. overall was 7.28%. 14 mutations identified, different lead varying levels activities. best cut-off activity male subjects...
CCCTC‐binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay microcephaly. So far, four patients have reported with de novo mutations. We three additional Chinese variants . The new evidence helped to establish the clinical validity between emerging disorder. described consistent phenotypes shared all revealed features...
Alopecia areata (AA) is a common non-scarring hair loss condition whose specific pathogenesis not yet fully understood. In children, AA often co-occurs with atopic dermatitis (AD), complicating treatment. Here, we report the case of child myasthenia gravis who had severe and moderate AD. The previously been treated local injections corticosteroids developed total AD after discontinuing corticosteroid use. After approximately one year treatment baricitinib, 4 mg once daily, combined...
Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we firstly reanalyzed loci associated IS, drawing upon previous studies. Subsequently, mapped these to candidate genes using either location-based or function-based strategies. To further substantiate our findings, verified enrichment variants within across several large IS cohorts encompassing Chinese, East Asian, and European populations. Consequently, identified in EPHA4 gene as...
The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, early differentiation transient CH is important to avoid unnecessary prolonged treatment with L-T4.To investigate the based on newborn screening program in Guangxi Zhuang Autonomous Region, China, analyze predictors that might allow for an between permanent (P) (T) CH.Data from over a seven-year period (January 2009 January 2016) at Maternal Child Health Hospital are analyzed. Blood...
Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with in the skin, hair, and eyes. OCA1 OCA2 are caused by mutations of TYR genes, respectively, which responsible for most oculocutaneous albinism. However, incidence patients Guangxi remains unclear. To evaluate molecular basis thirty-six Guangxi, China. Peripheral venous blood samples were collected from these unrelated patients. The genes all individuals analyzed direct DNA sequencing sequences compared...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive (RR-MADD). Here, we report three novel one previously reported mutation ETFDH four RR-MADD who presented at various ages, characterize the corresponding changes ETF-QO protein structure. Clinicians should consider differential...
Objectives Defects in the human thyroid peroxidase ( TPO ) gene are reported to be one of causes congenital hypothyroidism (CH) due dyshormonogenesis. The aim this study was examine mutation spectrum and prevalence among patients with CH Guangxi Zhuang Autonomous Region China define relationships between genotypes clinical phenotypes. Methods Blood samples were collected from 192 Region, genomic DNA extracted peripheral blood leucocytes. All exons 10 common CH-associated genes including...
Hepatocellular carcinoma (HCC) is one of the most prevalent cancers worldwide. Nowadays, pharmacological therapy for HCC in urgent needs. Paclitaxel an effective drug against diverse solid tumors, but commonly resisted patients. We recently have disclosed that microtubule affinity-regulating kinase 4 (MARK4) increases dynamics and confers paclitaxel resistance HCC, suggesting MARK4 as attractive target to overcome resistance. Herein, we synthesized identified coumarin derivatives 50 a novel...
Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for microdeletion syndrome. Microdeletion without involvement of gene rarely reported.Here we reported a patient carrying novel de novo deletion adjacent to who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, philtrum, nasal bridge posteriorly rotated low set ears. Chromosomal microarray analysis revealed...
Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It caused biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism PS can be present from birth therefore diagnosed neonatal screening. The aim of this study was to examine mutation spectrum prevalence among congenital hypothyroidism (CH) patients Guangxi Zhuang Autonomous Region China establish how frequently causes impairment our with...