A5052720375- Pediatric Hepatobiliary Diseases and Treatments
- Drug Transport and Resistance Mechanisms
- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Liver Disease Diagnosis and Treatment
- Liver Diseases and Immunity
- Gallbladder and Bile Duct Disorders
- Hepatitis B Virus Studies
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- Genetic and Kidney Cyst Diseases
- Folate and B Vitamins Research
- Glycogen Storage Diseases and Myoclonus
- Amino Acid Enzymes and Metabolism
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Liver physiology and pathology
- Digestive system and related health
- Hepatitis C virus research
- Hepatitis Viruses Studies and Epidemiology
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Liver Disease and Transplantation
- Biomedical Research and Pathophysiology
- Child Nutrition and Water Access
Children's Hospital of Fudan University
2016-2025
Shanxi Agricultural University
2023
Anyang Institute of Technology
2023
Shanghai Medical College of Fudan University
2000-2023
Academic Degrees & Graduate Education
2023
Shanghai Institute of Hematology
2022-2023
Jinshan Hospital of Fudan University
2012-2022
Ministry of Agriculture and Rural Affairs
2021-2022
University Medical Center Groningen
2022
University of Groningen
2022
Hereditary cholestasis in childhood and infancy with normal serum gamma‐glutamyltransferase (GGT) activity is linked to several genes. Many patients, however, remain genetically undiagnosed. Defects myosin VB (MYO5B; encoded by MYO5B ) cause microvillus inclusion disease (MVID; MIM251850) recurrent watery diarrhea. Cholestasis, reported as an atypical presentation MVID, has been considered a side effect of parenteral alimentation. Here, we report on 10 patients who experienced associated...
Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, real‐world lacking. This study aimed to elucidate the natural history of liver disease in contemporary, international cohort children with ALGS. Approach Results: was multicenter retrospective clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 August 2019. Native survival (NLS) event‐free rates...
Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, approved pharmacologic therapy for cholestatic in ALGS. Since long-term placebo-controlled studies are not feasible or ethical children rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials aligned harmonized natural history cohort the G lobal AL agille A lliance...
Abstract Background & Aims In about 20% of children with cholestasis and normal or low serum gamma‐glutamyltransferase (GGT) activity, no aetiology is identified. We sought new genes implicated in paediatric hepatobiliary disease. Methods conducted whole‐exome sequencing 69 evaluated at our centre from 2011 to 2018 who had low‐GGT whom homozygous/compound heterozygous predictedly pathogenic variants (PPVs) ATP8B1 , ABCB11 NR1H4 MYO5B TJP2 were not found. Clinical records findings on...
AIM:To better understand the clinical significance of hepatitis B serologic markers in babies born to surface antigen (HBsAg) positive mothers, incidence maternal via placenta and its transformation these were investigated. METHODS:Mothers with HBsAg selected third trimester pregnancy.Their received immunoprophylaxis immunoglobulin vaccine after birth, consecutively followed up for HBV DNA at mo 1, 4, 7, 12, 24.RESULTS: Forty-two entered study, including 16 e (HBeAg)-positive carrier mothers...
Background and Aims Large indels are commonly identified in patients but not detectable by routine Sanger sequencing panel sequencing. We specially designed a multi-gene that could simultaneously test known large addition to ordinary variants, reported the diagnostic yield with intrahepatic cholestasis. Methods The contains 61 genes associated cholestasis 25 recurrent indels. amplicon library was sequenced on Ion PGM system. Sequencing data were analyzed using analysis protocol an internal...
Abstract Fruit shape is an important quality and yield trait in melon (Cucumis melo). Although some quantitative loci for fruit have been reported this species, the genes responsible underlying mechanisms remain poorly understood. Here, we identified characterized a gene controlling from two inbred lines, B8 with long-horn HP22 flat-round fruit. Genetic analysis suggested that was controlled by single incompletely dominant locus, which designate as CmFSI8/CmOFP13. This finely mapped to...
Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded CYP27A1), a key enzyme the bile acid synthesis pathway. CTX usually presents as neurologic disease adults or older children. The rare reports of manifest neonatal cholestasis assess transient, with patient survival. Our experience differs.Homozygous compound heterozygous CYP27A1 mutations were detected 8 patients whole exome sequencing, panel Sanger sequencing. Their clinical and biochemical...
To assess the spectrum of pediatric clinical phenotypes in TJP2 disease, we reviewed records our seven patients whom intrahepatic cholestasis was associated with biallelic variants (13; 12 novel) and correlated manifestations mutation type. The effect a splicing variant analyzed minigene assay. effects three missense were protein expression vitro. Our had both remitting persistent cholestasis. Three exhibited growth retardation. Six responded to treatment cholestyramine, ursodeoxycholic...
Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which most frequently due to JAG1 mutations. This study investigated rate, spectrum, and origin of mutations 91 Chinese children presenting with at least two clinical features (cholestasis, heart murmur, skeletal abnormalities, ocular characteristic facial features, renal abnormalities). Direct sequencing and/or multiplex-ligation-dependent probe amplification were performed these...
Underlying causes in Chinese children with recurrent acute liver failure (RALF), including crises less than full failure, are incompletely understood. We sought to address this by searching for genes mutated such children. Five unrelated boys presenting between 2012 and 2015 RALF of unexplained etiology were studied. Results whole exome sequencing screened mutations candidate genes. Mutations verified patients their family members Sanger sequencing. All 5 underwent biopsy. NBAS was the only...
Background For many children with intrahepatic cholestasis and high-serum gamma-glutamyl transferase (GGT) activity, a genetic aetiology of hepatobiliary disease remains undefined. We sought to identify novel genes mutated in idiopathic high-GGT cholestasis, clinical, histopathological functional correlations. Methods assembled cohort 25 undiagnosed without clinical features biliary-tract infection or radiological choledochal malformation, sclerosing cholangitis cholelithiasis. Mutations...
A recent cluster of pneumonia cases in China was caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We report screening and diagnosis corona virus disease 2019 (COVID-19) our hospital.
Cotton is one of the most important crops in world. GDSL-type esterases/lipases (GELPs) are widely present all kingdoms and play an essential role regulating plant growth, development, responses to abiotic biotic stresses. However, molecular mechanisms underlying this functional diversity remain unclear. Here, based on identification GELP gene family, we applied genetic evolution simulation techniques explore cotton species. A total 1502 genes were identified 10 Segmental duplication...
A recent study suggested that administration of ursodeoxycholic acid (UDCA) at dosages usually employed clinically may reduce rates severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. surge SARS-CoV-2 omicron infection in China allowed whether UDCA reduced susceptibility to children with liver disease.Through WeChat groups, a questionnaire was distributed families (n = 300) which child had been admitted our service the past 5 years. Among families/households someone...