Publications by authors named "Chikako Oyama"
Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.
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- Nucleotide excision repair (NER) is crucial for fixing DNA damage from UV light, and deficiencies in this process lead to rare genetic disorders like xeroderma pigmentosum (XP) and Cockayne syndrome (CS), which share skin sensitivity but differ in other symptoms.
- The XP/CS complex represents a rare NER disorder that combines features of both XP and CS, including severe skin and eye issues alongside neurological problems, with cases sometimes complicated by renal failure.
- A study reports on a 1-year-old boy with XP/CS complex who developed nephrotic syndrome due to mutations in the ERCC2 gene, highlighting the potential role of oxidative stress in kidney damage, ultimately leading to his death from renal failure at
In adults, serum uric acid levels are positively correlated with body mass index (BMI) and hyperuricemia is considered to be a common lifestyle disorder related with obesity. However, the relation of serum uric acid levels with obesity has not been elucidated in children and adolescents. Serum uric acid levels were determined in 1,729 healthy children, consisted of 923 boys and 806 girls, aged 9.
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