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: CALR: 1213G>C; Glu405Gln

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Calreticulin: Challenges Posed by the Intrinsically Disordered Nature of Calreticulin to the Study of Its Function.

Frontiers In Cell And Developmental Biology

Varricchio, Lilian L; Falchi, Mario M; Dall'Ora, Massimiliano M; De Benedittis, Caterina C; Ruggeri, Alessandra A; Uversky, Vladimir N VN; Migliaccio, Anna Rita AR

Publication Date: 2017

Variant appearance in text: CALR: E405Q

PubMed Link: 29218307

Variant Present in the following documents:

• Main text
• fcell-05-00096.pdf

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Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.

Blood Cancer Journal

Lim, K-H KH; Chang, Y-C YC; Gon-Shen Chen, C C; Lin, H-C HC; Wang, W-T WT; Chiang, Y-H YH; Cheng, H-I HI; Su, N-W NW; Lin, J J; Chang, Y-F YF; Chang, M-C MC; Hsieh, R-K RK; Kuo, Y-Y YY; Chou, W-C WC

Publication Date: 2015-03-20

Variant appearance in text: CALR: E405Q

PubMed Link: 25794131

Variant Present in the following documents:

• Main text
• bcj201521a.pdf

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