A5034777800- Gut microbiota and health
- Hemophilia Treatment and Research
- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- Iron Metabolism and Disorders
- Renal and related cancers
- Urinary Tract Infections Management
- Gastrointestinal motility and disorders
- Clostridium difficile and Clostridium perfringens research
- Metabolism and Genetic Disorders
- Magnesium in Health and Disease
- Bone and Dental Protein Studies
- Parathyroid Disorders and Treatments
- Platelet Disorders and Treatments
- Renal cell carcinoma treatment
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Genomics and Rare Diseases
- Bone health and treatments
- Oral microbiology and periodontitis research
- Genetic and Kidney Cyst Diseases
- Connective tissue disorders research
- Blood properties and coagulation
- Heterotopic Ossification and Related Conditions
- Tuberous Sclerosis Complex Research
Fujian Medical University
2020-2023
Fujian Provincial Hospital
2021-2023
Abstract X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate impaired, resulting in and impaired bone mineralization. By phenotypic-genetic linkage analysis, two pathogenic mutations were found XLH families: c.433 G > T, p.Glu145* exon 4 c.2245 T C, p.Trp749Arg 22. Immunofluorescence showed that the localization mutant secretory...
To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) 600 Birt–Hogg–Dubé (BHD) syndrome have been reported, low incidence. Here, we describe a patient suspected rare HLRCC complicated by BHD syndrome. The proband (II1) had characteristic cutaneous leiomyoma-like protrusions on the neck back, left mass multiple right renal, liver bilateral lung cysts. Three family members (I1, II2, II3) history of cancer several aforementioned clinical features. Two (II1,...
Background Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS FKBPl0 , whereas that II PLOD2 . No significant difference has been found in the clinical phenotype between two types BS. In this study, we performed genetic analysis pedigree caused variant studied corresponding cellular function. Methods Serum biochemistry, parathyroid hormone (PTH),...
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
Hereditary factor VII deficiency (FVIID) is a rare congenital autosomal recessive bleeding disorder. In clinical manifestations, its onset caused by variant of the F7 gene (NM_019616) with strong heterogeneity. We identified family hematuria novel compound heterozygous and investigated FVIID-dependent mechanism impacted these variants.Coagulation factors in proband were functionally verified. located pathogenic variants relevant genes using next-generation sequencing after target enrichment...