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Ataxia telangiectasia
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant...
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Katherine Schon, Nienke JH van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Julian Ray, Mohnish Suri, William P Whitehouse, Puja R Mehta, Natasha Everett, Leonardo Bottolo, Bart P van de Warrenburg, Philip J Byrd, Corry Weemaes, Michel A Willemsen, Marc Tischkowitz, A Malcolm Taylor, Anke E Hensiek
Jan 02, 2019
Pharmacological activation of a novel p53-dependent S-phase checkpoint involving CHK-1.
We have recently shown that induction of the p53 tumour suppressor protein by the small-molecule RITA (reactivation of p53 and induction of tumour cell apoptosis; 2,5-bis(5-hydroxymethyl-2-thienyl)furan) inhibits...
Apoptosis Ataxia Telangiectasia Breast Neoplasms Cell Cycle Proteins Cell Line Tumor Checkpoint Kinase 1 Colorectal Neoplasms DNA Damage DNA Replication Female Furans Gene Knockdown Techniques Histones Humans Hypoxia Hypoxia-Inducible Factor 1 alpha Subunit Osteosarcoma Phosphorylation Protein Kinase Inhibitors Protein Kinases Replication Origin S Phase Signal Transduction Transfection Tumor Suppressor Protein p53
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Fabienne Lesueur, Douglas F Easton, Anne-Laure Renault, Sean V Tavtigian, Jonine L Bernstein, Zsofia Kote-Jarai, Rosalind A Eeles, Dijana Plaseska-Karanfia, Lidia Feliubadaló, Spanish ATM working group, Banu Arun, Natalie Herold, Beatrix Versmold, Rita Katharina Schmutzler, GC-HBOC, Tú Nguyen-Dumont, Melissa C Southey, Leila Dorling, Alison M Dunning, Paola Ghiorzo, Bruna Samia Dalmasso, Eve Cavaciuti, Dorothée Le Gal, Nicholas J Roberts, Mev Dominguez-Valentin, Matti Rookus, Alexander MR Taylor, Alisa M Goldstein, David E Goldgar, CARRIERS and Ambry Groups, Dominique Stoppa-Lyonnet, Nadine Andrieu
Apr 14, 2021
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated...
Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.
Mae A Goldgraben, Eleanor Fewings, Alexey Larionov, James Scarth, James Redman, Nick Telford, Peter D Arkwright, Denise Bonney, Deepti Wilks, Samar Kulkarni, A Malcolm R Taylor, Marc D Tischkowitz, Stefan Meyer
Apr 02, 2020
Adolescent Ataxia Telangiectasia Ataxia Telangiectasia Mutated Proteins Chromosome Aberrations DNA Helicases Female Gene Expression Profiling Humans Interleukin-7 Receptor alpha Subunit Leukemia Myeloid Acute Poly-ADP-Ribose Binding Proteins Polymorphism Single Nucleotide Proto-Oncogene Proteins p21(ras) RNA Helicases RNA Recognition Motif Proteins Transcriptome Tumor Suppressor Protein p53
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Víctor Lorca, Inés Llinares-Burguet, Jamie Allen, Alicia García-Álvarez, Pedro Pérez-Segura, Mercedes Durán, Douglas F Easton, Peter Devilee, Maaike PG Vreeswijk, Miguel de la Hoya, Eladio A Velasco-Sampedro
Jul 15, 2022
The ataxia telangiectasia-mutated (ATM) protein is a major coordinator of the DNA damage response pathway. ATM loss-of-function variants are associated with 2-fold increased breast cancer risk. We aimed at identifying and...