A5036133013- Ion Transport and Channel Regulation
- Pancreatic function and diabetes
- Genetics and Neurodevelopmental Disorders
- Hepatitis C virus research
- Cellular transport and secretion
- Hypothalamic control of reproductive hormones
- Ion channel regulation and function
- Liver Disease Diagnosis and Treatment
- Growth Hormone and Insulin-like Growth Factors
- Genetic Associations and Epidemiology
- Axon Guidance and Neuronal Signaling
Shandong Provincial Hospital
2022-2023
Shandong Academy of Chinese Medicine
2022-2023
Shandong First Medical University
2023
Shandong Center for Disease Control and Prevention
2023
Shanghai Clinical Research Center
2023
Shandong University
2020-2022
Background/Aims: To evaluate the causal correlation between complement components and non-viral liver diseases their potential use as druggable targets.Methods: We conducted Mendelian randomization (MR) to assess role of circulating complements in risk diseases. A complement-centric protein interaction network was constructed explore biological functions identify therapeutic options.Results: In MR analysis, genetically predicted levels C1q C chain (C1QC) were positively associated with...
Abstract Dysfunction of glucokinase (GCK) caused by mutations in the GCK gene is main cause maturity‐onset diabetes young type‐2 (MODY2, also known as GCK‐MODY), which usually present adolescence or adulthood. MODY2 characterized mild, stable fasting hyperglycemia that presents at birth, 5.4–8.3 mmol L −1 , and rarely develops complications from diabetes. The treatment prefers a manageable diet rather than use insulin. Previous studies have identified only online software prediction enzyme...
Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to defective migration of gonadotropin-releasing hormone (GnRH) neurons. However, this disorder clinically heterogeneous genotype-phenotype relationship has not been determined. The present study aimed identify variant causing KS in Chinese family evaluate functional consequences phenotypes associated with novel variant. A was screened for pathogenic variants whole-exome...
Gitelman syndrome(GS) is an autosomal recessive genetic disease caused by mutations in the SLC12A3 gene located chromosome 16q13. The incidence of GS 1-10∶40 000. encodes thiazide-sensitive sodium-chloride cotransporters(NCC) which play key roles Na+ and Cl- reabsorption. characterized hypokalemic metabolic alkalosis combination with significant hypomagnesaemia low urinary calcium excretion. There are some correlations between genotypes phenotypes. In previous studies, more than 500 have...