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: 1180G>A; Glu394Lys

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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Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology

Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022-12-10

Variant appearance in text: PTEN: E394K

PubMed Link: 36495126

Variant Present in the following documents:

• MOL2-17-598-s002.xlsx, sheet 1

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: PTEN: E394K

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: PTEN: E394K

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Synergistic antitumor activity of pan-PI3K inhibition and immune checkpoint blockade in bladder cancer.

Journal For Immunotherapy Of Cancer

Zhu, Shaoming S; Ma, A-Hong AH; Zhu, Zheng Z; Adib, Elio E; Rao, Ting T; Li, Na N; Ni, Kaiyuan K; Chittepu, Veera Chandra Sekhar Reddy VCSR; Prabhala, Rao R; Garisto Risco, Juan J; Kwiatkowski, David D; Mouw, Kent K; Sonpavde, Guru G; Cheng, Fan F; Pan, Chong-Xian CX

Publication Date: 2021-11

Variant appearance in text: PTEN: E394K

PubMed Link: 34725212

Variant Present in the following documents:

• jitc-2021-002917supp002.pdf

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: E394K

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PTEN: E394K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: E394K

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: 1180G>A; E394K

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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Cell Dispersal Influences Tumor Heterogeneity and Introduces a Bias in NGS Data Interpretation.

Scientific Reports

Pongor, Lőrinc L; Harami-Papp, Hajnalka H; Méhes, Előd E; Czirók, András A; Győrffy, Balázs B

Publication Date: 2017-08-04

Variant appearance in text: PTEN: 1180G>A; E394K

PubMed Link: 28779157

Variant Present in the following documents:

• 41598_2017_7487_MOESM5_ESM.xls, sheet 1
• 41598_2017_7487_MOESM6_ESM.xls, sheet 2
• 41598_2017_7487_MOESM6_ESM.xls, sheet 1

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: PTEN: E394K

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: PTEN: E394K

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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