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: BRAF: 362C>T; Thr121Ile

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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SPOP inhibits BRAF-dependent tumorigenesis through promoting non-degradative ubiquitination of BRAF.

Cell & Bioscience

Feng, Kai K; Shi, Qing Q; Jiao, Dongyue D; Chen, Yingji Y; Yang, Wanqi W; Su, Ke K; Wang, Yalan Y; Huang, Yan Y; Zhang, Pingzhao P; Li, Yao Y; Wang, Chenji C

Publication Date: 2022-12-30

Variant appearance in text: BRAF: T121I

PubMed Link: 36585710

Variant Present in the following documents:

• Main text
• 13578_2022_Article_950.pdf

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: BRAF: T121I

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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BRAF AMP Frequently Co-occurs With IDH1/2, TP53, and ATRX Mutations in Adult Patients With Gliomas and Is Associated With Poorer Survival Than That of Patients Harboring BRAF V600E.

Frontiers In Oncology

Da, Rong R; Wang, Maode M; Jiang, Haitao H; Wang, Tuo T; Wang, Wei W

Publication Date: 2020

Variant appearance in text: BRAF: T121I

PubMed Link: 33489866

Variant Present in the following documents:

• Main text
• fonc-10-531968.pdf
• Table_1.xlsx, sheet 1

View BVdb publication page