p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Journal of Clinical Investigation

• Publication date

  2013-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1172/JCI67289PMID 23454770PMCID PMC3582149
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• ATM and the molecular pathogenesis of ataxia telangiectasia.

  2012cited by this paper
• Beyond ATM: The protein kinase landscape of the DNA damage response

  2011cited by this paper
• ATR and ATM differently regulate WRN to prevent DSBs at stalled replication forks and promote replication fork recovery

  2010cited by this paper
• BRCA mutations in the management of breast cancer: the state of the art

  2010cited by this paper
• Multiple roles of ATM in monitoring and maintaining DNA integrity

  2010cited by this paper
• Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

  2009influential reference
• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

  2009cited by this paper
• Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation

  2009cited by this paper
• Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.

  2009cited by this paper
• Rapid screen for truncating ATM mutations by PTT-ELISA.

  2008cited by this paper
• A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia

  2008cited by this paper
• Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

  2008cited by this paper
• P53, cyclin-dependent kinase and abnormal amplification of centrosomes.

  2008cited by this paper
• Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

  2008influential reference
• Oncogenes and tumour suppressors take on centrosomes

  2007cited by this paper
• DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

  2006cited by this paper
• ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

  2006cited by this paper
• ATM is Activated by Default in Mitosis, Localizes at Centrosomes and Monitors Mitotic Spindle Integrity

  2006cited by this paper
• The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer

  2006cited by this paper
• Cancer risks and mortality in heterozygous ATM mutation carriers.

  2005cited by this paper
• Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia

  2005cited by this paper
• Centrosome control of the cell cycle Centrosome control of the cell cycle Centrosome control of the cell cycle Centrosome control of the cell cycle

  2005cited by this paper
• p53 localization at centrosomes during mitosis and postmitotic checkpoint are ATM-dependent and require serine 15 phosphorylation.

  2004cited by this paper
• Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.

  2003cited by this paper
• Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate

  2003cited by this paper
• Ataxia-telangiectasia: diagnosis and treatment.

  2003cited by this paper
• Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

  2002cited by this paper
• p53 Displacement from Centrosomes and p53-mediated G1 Arrest following Transient Inhibition of the Mitotic Spindle*

  2001cited by this paper
• Investigation

  2000cited by this paper
• Mortality Rates among Carriers of Ataxia-Telangiectasia Mutant Alleles

  2000influential reference
• Diversity of ATM gene mutations detected in patients with ataxia‐telangiectasia

  1997cited by this paper
• Genomic Organization of the ATM gene.

  1996influential reference
• Ataxia-telangiectasia in Italy: genetic analysis.

  1994influential reference
• Ataxia-telangiectasia in Italy: genetic analysis.

  1994cited by this paper
• Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

  1994cited by this paper
• Ataxia‐Telangiectasia: An Interdisciplinary Approach to Pathogenesis

  1991cited by this paper
• The incidence and gene frequency of ataxia-telangiectasia in the United States.

  1986influential reference
• Diagnosis of ataxia-telangiectasia by T-lymphocyte cloning assay.

  1985cited by this paper
• Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

  1975cited by this paper

• Che-1/miR-590-3p/TAZ axis sustains multiple myeloma disease

  2024cites this paper
• New cellular imaging‐based method to distinguish the SPG4 subtype of hereditary spastic paraplegia

  2023cites this paper
• Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia‐Telangiectasia Mutated Gene

  2022cites this paper
• Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone

  2021influential citation
• Novel genetic variants of inborn errors of immunity

  2021cites this paper
• Roles of RACK1 in centrosome regulation and carcinogenesis.

  2021cites this paper
• Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance

  2021cites this paper
• An Alternative Splice Variant of HIPK2 with Intron Retention Contributes to Cytokinesis

  2020cites this paper
• Ataxia–telangiectasia

  2020cites this paper
• Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

  2020cites this paper
• p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

  2019cites this paper
• Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation.

  2019cites this paper
• A look into centrosome abnormalities in colon cancer cells, how they arise and how they might be targeted therapeutically

  2018cites this paper
• Ataxia telangiectasia syndrome: moonlighting ATM

  2017cites this paper
• Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer

  2016cites this paper
• Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification

  2015cites this paper
• Chapter 73 – Ataxia-Telangiectasia

  2015cites this paper
• Biomarkers for Early Detection of Familial Breast Cancer

  2015cites this paper
• ATM-depletion in breast cancer cells confers sensitivity to PARP inhibition

  2013cites this paper
• Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives

  2013cites this paper