ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Human Mutation

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/(SICI)1098-1004(1998)12:3<186::AID-HUMU6>3.0.CO;2-FPMID 9711876
• 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.

• Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

  1998cited by this paper
• Recommendations for a nomenclature system for human gene mutations

  1998cited by this paper
• Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression.

  1997cited by this paper
• Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation

  1997cited by this paper
• Interaction between ATM protein and c-Abl in response to DNA damage

  1997cited by this paper
• Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.

  1997cited by this paper
• CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1

  1997cited by this paper
• CAND3: a ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 11q23.1.

  1997cited by this paper
• A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis.

  1997cited by this paper
• SSCP analysis of long DNA fragments in low pH gel

  1997cited by this paper
• Diversity of ATM gene mutations detected in patients with ataxia‐telangiectasia

  1997cited by this paper
• Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

  1996cited by this paper
• Exon-Scanning Mutation Analysis of the ATM Gene in Patients with Ataxia-Telangiectasia

  1996influential reference
• Ataxia-telangiectasia: founder effect among north African Jews.

  1996influential reference
• Checkpoints Take the Next Step

  1996cited by this paper
• Genomic Organization of the ATM gene.

  1996cited by this paper
• Identification and characterization of a new gene physically linked to the ATM gene.

  1996cited by this paper
• Mutations associated with variant phenotypes in ataxia-telangiectasia.

  1996influential reference
• The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

  1996influential reference
• A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

  1996influential reference
• Predominance of null mutations in ataxia-telangiectasia.

  1996influential reference
• Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

  1996influential reference
• ATM mutations in cancer families.

  1996cited by this paper
• The Schizosaccharomyces pombe rad3 checkpoint gene.

  1996cited by this paper
• New mutations in the ataxia telangiectasia gene

  1996influential reference
• A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

  1995cited by this paper
• The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene.

  1995cited by this paper
• The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

  1995influential reference
• TEL1, a gene involved in controlling telomere length in S. cerevisiae, is homologous to the human ataxia telangiectasia gene.

  1995cited by this paper
• TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1.

  1995cited by this paper
• Ataxia-Telangiectasia: Closer to Unraveling the Mystery

  1995cited by this paper
• Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families.

  1995cited by this paper
• When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

  1995cited by this paper
• Human cDNA clones that modify radiomimetic sensitivity of ataxia-telangiectasia (group A) cells

  1995cited by this paper
• β-サラセミア変異における銀染色法を用いたPCR-SSCP(single strand conformation polymorphism)

  1995cited by this paper
• Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP.

  1994cited by this paper

• Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

  2021cites this paper
• The cerebellar degeneration in ataxia-telangiectasia: A case for genome instability.

  2020cites this paper
• Next-generation sequencing reveals a novel pathogenic variant in the ATM gene

  2020cites this paper
• A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

  2018cites this paper
• Role of ATM in the repair of blocked DNA double-strand breaks

  2017cites this paper
• Computational Refinement of Functional Single Nucleotide Polymorphisms Associated with ATM Gene

  2012cites this paper
• New mutations in the ATM gene and clinical data of 25 AT patients

  2011cites this paper
• Rapid molecular diagnosis of ataxia-telangiectasia by optimised RT-PCR and direct sequencing analysis.

  2005cites this paper
• Radiation sensitivities of 31 human oesophageal squamous cell carcinoma cell lines

  2005cites this paper
• Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation

  2003influential citation
• Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions.

  2002cites this paper
• A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.

  2002cites this paper
• DNA damage response genes and chromosome 11q21-q24 candidate tumor suppressor genes in breast cancer

  2002cites this paper
• ATM mutations in Finnish breast cancer patients

  2002cites this paper
• A Val 227 Ala polymorphism in the peroxisome proliferator activated receptor α ( PPAR á ) gene is associated with variations in serum lipid levels

  2002cites this paper
• A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

  2002cites this paper
• Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high‐performance liquid chromatography

  2001cites this paper
• ATM: genome stability, neuronal development, and cancer cross paths.

  2001cites this paper
• Global analysis of ATM polymorphism reveals significant functional constraint.

  2001cites this paper
• Altered splicing of the ATDC message in ataxia telangiectasia group D cells results in the absence of a functional protein.

  2000cites this paper
• Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

  2000cites this paper
• Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

  2000cites this paper
• pK-matched running buffers for gel electrophoresis.

  1999cites this paper
• New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

  1999cites this paper
• Role of the ATM Gene in Bilateral Breast Cancer Following Radiotherapy

  1998cites this paper