CLINICAL FEATURES, CELLULAR PHENOTYPE AND ATM GENE MUTATION IN ATAXIA TELANGIECTASIA (AT) AND AT-VARIANT PATIENTS

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Splicing defects in the ataxia-telangiectasia gene, ATM:: Underlying mutations and consequences

• BLOOD

  Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia

• BRITISH JOURNAL OF CANCER

  ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes

• CANCER RESEARCH

  Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations

• CANCER RESEARCH

  Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia

• EUROPEAN JOURNAL OF BIOCHEMISTRY

  Efficient DNA base excision repair in ataxia telangiectasia cells

• HUMAN MOLECULAR GENETICS

  hMRE11:: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

• HUMAN MOLECULAR GENETICS

  MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

• JOURNAL OF CELLULAR BIOCHEMISTRY

  Changes of chromatin condensation in one patient with ataxia telangiectasia disorder: A structural study

• JOURNAL OF PEDIATRICS

  Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

• MOLECULAR AND CELLULAR BIOLOGY

  Chk2 activation dependence on Nbs1 after DNA damage

• MOLECULAR GENETICS AND METABOLISM

  Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

• PRENATAL DIAGNOSIS

  Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

• RADIATION RESEARCH

  Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast