Publications:

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: PTEN: 208C>G; L70V

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: PTEN: L70V

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications

Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K

Publication Date: 2020-04-29

Variant appearance in text: PTEN: L70V

PubMed Link: 32350270

Variant Present in the following documents:

• Main text

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Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

Human Molecular Genetics

Wong, Wan-Rong WR; Brugman, Katherine I KI; Maher, Shayda S; Oh, Jun Young JY; Howe, Kevin K; Kato, Mihoko M; Sternberg, Paul W PW

Publication Date: 2019-07-01

Variant appearance in text: PTEN: 208C>G; L70V

PubMed Link: 31220273

Variant Present in the following documents:

• Main text

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PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran

Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M

Publication Date: 2019

Variant appearance in text: PTEN: L70V

PubMed Link: 31086789

Variant Present in the following documents:

• Main text
• mjiri-33-10.pdf

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Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

The Journal Of Allergy And Clinical Immunology

Chen, Hannah H HH; Händel, Norman N; Ngeow, Joanne J; Muller, James J; Hühn, Michael M; Yang, Huei-Ting HT; Heindl, Mario M; Berbers, Roos-Marijn RM; Hegazy, Ahmed N AN; Kionke, Janina J; Yehia, Lamis L; Sack, Ulrich U; Bläser, Frank F; Rensing-Ehl, Anne A; Reifenberger, Julia J; Keith, Julia J; Travis, Simon S; Merkenschlager, Andreas A; Kiess, Wieland W; Wittekind, Christian C; Walker, Lisa L; Ehl, Stephan S; Aretz, Stefan S; Dustin, Michael L ML; Eng, Charis C; Powrie, Fiona F; Uhlig, Holm H HH

Publication Date: 2017-02

Variant appearance in text: PTEN: 208C>G; Leu70Val

PubMed Link: 27477328

Variant Present in the following documents:

• Main text
• main.pdf

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: 208C>G

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

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Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

Molecular Psychiatry

Frazier, T W TW; Embacher, R R; Tilot, A K AK; Koenig, K K; Mester, J J; Eng, C C

Publication Date: 2015-09

Variant appearance in text: PTEN: Leu70Val

PubMed Link: 25288137

Variant Present in the following documents:

View BVdb publication page

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Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.

Frontiers In Molecular Neuroscience

Kreis, Patricia P; Leondaritis, George G; Lieberam, Ivo I; Eickholt, Britta J BJ

Publication Date: 2014

Variant appearance in text: PTEN: L70V

PubMed Link: 24744697

Variant Present in the following documents:

• Main text
• fnmol-07-00023.pdf

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Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

European Journal Of Human Genetics : Ejhg

Hobert, Judith A JA; Embacher, Rebecca R; Mester, Jessica L JL; Frazier, Thomas W TW; Eng, Charis C

Publication Date: 2014-02

Variant appearance in text: PTEN: L70V

PubMed Link: 23695273

Variant Present in the following documents:

• Main text

View BVdb publication page

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