Publications:

Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: NF1: 1960C>T; Pro654Ser; rs765281937

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids

Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D

Publication Date: 2022-06-14

Variant appearance in text: NF1: Pro654Ser

PubMed Link: 35433111

Variant Present in the following documents:

• mmc1.pdf

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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine

Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S

Publication Date: 2018-10

Variant appearance in text: rs765281937

PubMed Link: 30274822

Variant Present in the following documents:

• mmc1.xls, sheet 1

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TIAM1 variants improve clinical outcome in neuroblastoma.

Oncotarget

Sanmartín, Elena E; Yáñez, Yania Y; Fornés-Ferrer, Victoria V; Zugaza, José L JL; Cañete, Adela A; Castel, Victoria V; Font de Mora, Jaime J

Publication Date: 2017-07-11

Variant appearance in text: NF1: 1960C>T; Pro654Ser

PubMed Link: 28423360

Variant Present in the following documents:

• oncotarget-08-45286-s003.xlsx, sheet 1

View BVdb publication page