Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GJB1: 770G>A; Gly257Asp

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Hypermutation and unique mutational signatures of occupational cholangiocarcinoma in printing workers exposed to haloalkanes.

Carcinogenesis

Mimaki, Sachiyo S; Totsuka, Yukari Y; Suzuki, Yutaka Y; Nakai, Chikako C; Goto, Masanori M; Kojima, Motohiro M; Arakawa, Hirofumi H; Takemura, Shigekazu S; Tanaka, Shogo S; Marubashi, Shigeru S; Kinoshita, Masahiko M; Matsuda, Tomonari T; Shibata, Tatsuhiro T; Nakagama, Hitoshi H; Ochiai, Atsushi A; Kubo, Shoji S; Nakamori, Shoji S; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2016-08

Variant appearance in text: GJB1: G257D

PubMed Link: 27267998

Variant Present in the following documents:

• supp_bgw066_Supplementary_File_1_151127.xlsx, sheet 4

View BVdb publication page