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: PTEN: 1204A>G; Lys402Glu

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Precise Immunodetection of PTEN Protein in Human Neoplasia.

Cold Spring Harbor Perspectives In Medicine

Pulido, Rafael R; Mingo, Janire J; Gaafar, Ayman A; Nunes-Xavier, Caroline E CE; Luna, Sandra S; Torices, Leire L; Angulo, Javier C JC; López, José I JI

Publication Date: 2019-12-02

Variant appearance in text: PTEN: K402E

PubMed Link: 31501265

Variant Present in the following documents:

• Main text

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Precise definition of PTEN C-terminal epitopes and its implications in clinical oncology.

Npj Precision Oncology

Mingo, Janire J; Luna, Sandra S; Gaafar, Ayman A; Nunes-Xavier, Caroline E CE; Torices, Leire L; Mosteiro, Lorena L; Ruiz, Rebeca R; Guerra, Isabel I; Llarena, Roberto R; Angulo, Javier C JC; López, José I JI; Pulido, Rafael R

Publication Date: 2019

Variant appearance in text: PTEN: 1204A>G

PubMed Link: 30993208

Variant Present in the following documents:

• 41698_2019_83_MOESM1_ESM.pdf

View BVdb publication page