Publications:

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Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Iscience

Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E

Publication Date: 2023-02-17

Variant appearance in text: NF1: 3683delC; N1229Mfs*11

PubMed Link: 36818284

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 4
• main.pdf

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Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation.

Cancers

Harigai, Ritsuko R; Sato, Ryo R; Hirose, Chikako C; Takenouchi, Toshiki T; Kosaki, Kenjiro K; Hirose, Takanori T; Saya, Hideyuki H; Arima, Yoshimi Y

Publication Date: 2022-05-12

Variant appearance in text: NF1: 3683delC

PubMed Link: 35625983

Variant Present in the following documents:

• Main text
• cancers-14-02377.pdf

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Neurofibromin Deficiency Causes Epidermal Growth Factor Receptor Upregulation through the Activation of Ras/ERK/SP1 Signaling Pathway in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheet Tumor.

International Journal Of Molecular Sciences

Park, Gun-Hoo GH; Lee, Su-Jin SJ; Lee, Chang-Gun CG; Kim, Jeonghyun J; Park, Eunkuk E; Jeong, Seon-Yong SY

Publication Date: 2021-12-10

Variant appearance in text: NF1: 3683delC

PubMed Link: 34948100

Variant Present in the following documents:

• Main text

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Genetics of human malignant peripheral nerve sheath tumors.

Neuro-Oncology Advances

Pemov, Alexander A; Li, Hua H; Presley, William W; Wallace, Margaret R MR; Miller, David T DT

Publication Date: 2020-07

Variant appearance in text: NF1: 3683delC

PubMed Link: 32642732

Variant Present in the following documents:

• Main text
• vdz049.pdf

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Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Oncotarget

Varin, Jennifer J; Poulain, Laury L; Hivelin, Mikael M; Nusbaum, Patrick P; Hubas, Arnaud A; Laurendeau, Ingrid I; Lantieri, Laurent L; Wolkenstein, Pierre P; Vidaud, Michel M; Pasmant, Eric E; Chapuis, Nicolas N; Parfait, Béatrice B

Publication Date: 2016-06-14

Variant appearance in text: NF1: 3684delC

PubMed Link: 26840085

Variant Present in the following documents:

• Main text

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 3684delC; Asn1229MetfsX11

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

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