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Article

Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice.

Journal of dermatological science - 1 Mar 2012

Nakagawa Noboru, Yamamoto Masaaki, Imai Yasutomo, Sakaguchi Yoshiko, Takizawa Takami, Ohta Noboru, Yagi Naoto, Hatta Ichiro, Hitomi Kiyotaka, Takizawa Toshihiro, Takeda Junji, Tsuda Tatsuya, Matsuki Masato, Yamanishi Kiyofumi

Abstract excerpt

BACKGROUND: Mutations in the gene encoding transglutaminase 1 (TG1) are responsible for various types of autosomal recessive congenital ichthyosis (ARCI), such as lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and some minor variants of ARCI. A point mutation of R143C in the β-sandwich domain of TG1 has been often identified in patients with LI or CIE. OBJECTIVE: To elucidate the effect of...

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PMID: 22258055
DOI: 10.1016/j.jdermsci.2011.12.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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