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: TP53: 1145A>C; Lys382Thr

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Evolution of Mutational Landscape and Tumor Immune-Microenvironment in Liver Oligo-Metastatic Colorectal Cancer.

Cancers

Ottaiano, Alessandro A; Caraglia, Michele M; Di Mauro, Annabella A; Botti, Gerardo G; Lombardi, Angela A; Galon, Jerome J; Luce, Amalia A; D'Amore, Luigi L; Perri, Francesco F; Santorsola, Mariachiara M; Hermitte, Fabienne F; Savarese, Giovanni G; Tatangelo, Fabiana F; Granata, Vincenza V; Izzo, Francesco F; Belli, Andrea A; Scala, Stefania S; Delrio, Paolo P; Circelli, Luisa L; Nasti, Guglielmo G

Publication Date: 2020-10-21

Variant appearance in text: TP53: K382T

PubMed Link: 33096795

Variant Present in the following documents:

• Main text
• cancers-12-03073.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: K382T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Impaired p53 binding to importin: a novel mechanism of cytoplasmic sequestration identified in oxaliplatin-resistant cells.

Oncogene

Komlodi-Pasztor, E E; Trostel, S S; Sackett, D D; Poruchynsky, M M; Fojo, T T

Publication Date: 2009-09-03

Variant appearance in text: p53: K382T

PubMed Link: 19581934

Variant Present in the following documents:

• Main text

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