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: STRADB: 1247G>T; Trp416Leu
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.
Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021
Variant appearance in text: STRADB: 1247G>T; W416L
Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.
Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021-08-13
Variant appearance in text: STRADB: 1247G>T; W416L