Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Abstract A disintegrin and metalloprotease 17 (ADAM17) is the major sheddase that processes more than 80 substrates, including tumour necrosis factor-α (TNFα). The homozygous genetic deficiency of ADAM17 causing a complete loss of ADAM17 expression was reported to be linked to neonatal inflammatory...

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Auteurs principaux: Issei Imoto, Masako Saito, Kenichi Suga, Tomohiro Kohmoto, Masanobu Otsu, Keisuke Horiuchi, Hironao Nakayama, Shigeki Higashiyama, Mayumi Sugimoto, Ayumi Sasaki, Yukako Homma, Miki Shono, Ryuji Nakagawa, Yasunobu Hayabuchi, Shoichiro Tange, Shoji Kagami, Kiyoshi Masuda
Format: article
Langue:EN
Publié: Nature Portfolio 2021
Sujets:
Medicine
R
Science
Q
Accès en ligne:https://doaj.org/article/f54d298d87a549a0b4eef6bb10764fdc
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