Publications:

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Orphanet Journal Of Rare Diseases

Schröder, Simone S; Yigit, Gökhan G; Li, Yun Y; Altmüller, Janine J; Büttel, Hans-Martin HM; Fiedler, Barbara B; Kretzschmar, Christoph C; Nürnberg, Peter P; Seeger, Jürgen J; Serpieri, Valentina V; Valente, Enza Maria EM; Wollnik, Bernd B; Boltshauser, Eugen E; Brockmann, Knut K

Publication Date: 2023-05-02

Variant appearance in text: ATM: Lys750del

PubMed Link: 37131188

Variant Present in the following documents:

• 13023_2023_Article_2706.pdf

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ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers

Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M

Publication Date: 2021-11-01

Variant appearance in text: ATM: K750del

PubMed Link: 34771661

Variant Present in the following documents:

• Main text
• cancers-13-05498.pdf

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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Scientific Reports

Pozzi, Elisa E; Giorgio, Elisa E; Mancini, Cecilia C; Lo Buono, Nicola N; Augeri, Stefania S; Ferrero, Marta M; Di Gregorio, Eleonora E; Riberi, Evelise E; Vinciguerra, Maria M; Nanetti, Lorenzo L; Bianchi, Federico Tommaso FT; Sassi, Maria Paola MP; Costanzo, Vincenzo V; Mariotti, Caterina C; Funaro, Ada A; Cavalieri, Simona S; Brusco, Alfredo A

Publication Date: 2020-11-19

Variant appearance in text: ATM: Lys750del

PubMed Link: 33214630

Variant Present in the following documents:

• 41598_2020_77352_MOESM1_ESM.pdf

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: Lys750del

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer

Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM

Publication Date: 2011-08-09

Variant appearance in text: ATM: Lys750del

PubMed Link: 21792198

Variant Present in the following documents:

View BVdb publication page