Publications:

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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: 1202C>T; Thr401Ile

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: PTEN: T401I

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PTEN: T401I

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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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: T401I

PubMed Link: 31501265

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1202C>T; T401I

PubMed Link: 30993208

Variant Present in the following documents:

• 41698_2019_83_MOESM1_ESM.pdf
• 41698_2019_Article_83.pdf

View BVdb publication page

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PTEN Regulates Glucose Transporter Recycling by Impairing SNX27 Retromer Assembly.

Cell Reports

Shinde, Swapnil Rohidas SR; Maddika, Subbareddy S

Publication Date: 2017-11-07

Variant appearance in text: PTEN: T401I

PubMed Link: 29117568

Variant Present in the following documents:

• Main text
• mmc2.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PTEN: T401I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: T401I

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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