Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels...
Ken Yoshida Kazuha Yokota Kazuhisa Watanabe Hidetoshi Tsuda Ayumi Matsumoto Hiroaki Mizukami Sadahiko Iwamoto
Scientific reports 13(1) 1843-1843 2023年2月
Our previous genome-wide association study to explore genetic loci associated with lean nonalcoholic fatty liver disease (NAFLD) in Japan suggested four candidate loci, which were mapped to chr6, chr7, chr12 and chr13. The present study aimed to i...
We previously revealed that Kbtbd11 mRNA levels increase during 3T3-L1 differentiation and Kbtbd11 knockdown suppresses whereas its overexpression promotes adipogenesis. However, how Kbtbd11 mRNA is regulated during adipocyte differentiation and h...
Molecular genetics & genomic medicine 10(9) e2008 2022年6月 [査読有り]
BACKGROUND: Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber-type disproportion (CFTD). CFTD is characterized by type 1 fiber atrophy and distinguished from NM in the absence of r...
Journal of dermatological science 105(2) 113-120 2022年2月
BACKGROUND: IL-33 is a dual-functional molecule; it acts as a cytokine to enhance type 2 inflammation, and as a nuclear factor. The roles of nuclear IL-33 are not yet fully understood. OBJECTIVE: We aimed to investigate the role of IL-33 in normal...
＜症例のポイント＞乾癬性紅皮症の治療経過中にnarrow band ultraviolet B(以下、NB-UVB)照射療法を行い膿疱性乾癬が誘発された。IL36RN遺伝子変異検索ではp.Asn47Serのヘテロ変異を認めた。通常はキャリアと解釈されるヘテロ変異症例でもなんらかの複合要因のもとに炎症反応が強く働き、膿疱性乾癬の皮疹が発症する可能性があり、自験例は光線過敏症が要因と考えた。(著者抄録)
＜症例のポイント＞乾癬性紅皮症の治療経過中にnarrow band ultraviolet B(以下、NB-UVB)照射療法を行い膿疱性乾癬が誘発された。IL36RN遺伝子変異検索ではp.Asn47Serのヘテロ変異を認めた。通常はキャリアと解釈されるヘテロ変異症例でもなんらかの複合要因のもとに炎症反応が強く働き、膿疱性乾癬の皮疹が発症する可能性があり、自験例は光線過敏症が要因と考えた。(著者抄録)
自治医科大学
分子病態治療研究センター