Author

Takashi Kato

2 papers indexed here

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Aug 2026

Adult Hypophosphatasia with a Single Heterozygous c.572A>G p.Glu191Gly Mutation in the ALPL gene: Case Report.

Adult-onset hypophosphatasia manifests after age 18, and is characterized by reduced tissue-nonspecific alkaline phosphatase (ALP) activity. This can lead to fractures, pseudo-fractures, osteomalacia, decreased bone density (bone loss), muscle weakness, myalgia, arthralgia, headache, dental symptoms (loss of permanent...

Kota Hyakuna, Shigeru Iwata, Taro Nishikawa et al. · Modern Rheumatology Case Rep... · 0 citations

Open access Sep 2026

Hypomorphic Lig4 gene mutation in mice predisposes to Th1-skewed intestinal inflammation.

DNA ligase IV (LIG4) is essential for DNA double-strand break (DSB) repair. Hypomorphic LIG4 variants cause LIG4 syndrome, characterized by growth disturbance, increased radiosensitivity, predisposition to malignancies, adaptive immunodeficiency and inflammatory conditions. Most of these manifestations are recapitulate...

Yusuke Yamashita, Hideki Kosako, Takashi Kato et al. · JCI Insight · 0 citations