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: 1189C>T; His397Tyr

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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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics

Chetruengchai, Wanna W; Shotelersuk, Vorasuk V

Publication Date: 2022-03

Variant appearance in text: PTEN: 1189C>T

PubMed Link: 34621001

Variant Present in the following documents:

• nihms-1795698.pdf

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: PTEN: 1189C>T; H397Y

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

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: H397Y

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: 1189C>T; H397Y

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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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: PTEN: 1189C>T; H397Y

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Phase I study of everolimus and mitomycin C for patients with metastatic esophagogastric adenocarcinoma.

Cancer Medicine

Werner, Dominique D; Atmaca, Akin A; Pauligk, Claudia C; Pustowka, Anette A; Jäger, Elke E; Al-Batran, Salah-Eddin SE

Publication Date: 2013-06

Variant appearance in text: PTEN: H397Y

PubMed Link: 23930209

Variant Present in the following documents:

• Main text
• cam40002-0325.pdf

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: H397Y

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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