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

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 skin and...

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Detalles Bibliográficos
Autores principales: Imoto, Issei, Saito, Masako, Suga, Kenichi, Kohmoto, Tomohiro, Otsu, Masanobu, Horiuchi, Keisuke, Nakayama, Hironao, Higashiyama, Shigeki, Sugimoto, Mayumi, Sasaki, Ayumi, Homma, Yukako, Shono, Miki, Nakagawa, Ryuji, Hayabuchi, Yasunobu, Tange, Shoichiro, Kagami, Shoji, Masuda, Kiyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100128/
https://www.ncbi.nlm.nih.gov/pubmed/33953303
http://dx.doi.org/10.1038/s41598-021-89063-0

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