Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

by Naomi Tani, Nanako Yamada, Tetsuya Okazaki, Takashi Horie, Hajime Nakano, Daisuke Sawamura, Osamu Yamamoto
Published 2020-10-01

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

by Maier Dalila, Florea Adrian, Tilinca Mariana Cornelia, Zazgyva Ancuța, Cosgarea Rodica
Published 2016-12-01

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

by Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani
Published 2019-02-01

Increased transcription of transglutaminase 1 mediates neuronal death in in vitro models of neuronal stress and Aβ1–42-mediated toxicity

by Debasmita Tripathy, Alice Migazzi, Federica Costa, Alessandro Roncador, Pamela Gatto, Federica Fusco, Lucia Boeri, Diego Albani, J. Leon Juárez-Hernández, Carlo Musio, Laura Colombo, Mario Salmona, M.M. Micha Wilhelmus, Benjamin Drukarch, Maria Pennuto, Manuela Basso
Published 2020-07-01