Publications:

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Scientific Reports

Rawat, Amit A; Tyagi, Rahul R; Chaudhary, Himanshi H; Pandiarajan, Vignesh V; Jindal, Ankur Kumar AK; Suri, Deepti D; Gupta, Anju A; Sharma, Madhubala M; Arora, Kanika K; Bal, Amanjit A; Madaan, Priyanka P; Saini, Lokesh L; Sahu, Jitendra Kumar JK; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Nonoyama, Shigeaki S; Singh, Surjit S

Publication Date: 2022-03-08

Variant appearance in text: ATM: Asp2708Gln

PubMed Link: 35260754

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8019.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: Asp2708Gln

PubMed Link: 33214630

Variant Present in the following documents:

• 41598_2020_77352_MOESM1_ESM.pdf

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Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.

Neurology. Genetics

Leuzzi, Vincenzo V; D'Agnano, Daniela D; Menotta, Michele M; Caputi, Caterina C; Chessa, Luciana L; Magnani, Mauro M

Publication Date: 2018-04

Variant appearance in text: ATM: Asp2708Gln

PubMed Link: 29600275

Variant Present in the following documents:

• Main text
• NG2017006700.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: Asp2708Gln

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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