Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.

DNA repair - 1 Jan 2000

Taylor A M R, Groom A, Byrd P J

Abstract excerpt

Comparison of the clinical and cellular phenotypes of different genomic instability syndromes provides new insights into functional links in the complex network of the DNA damage response. A prominent example of this principle is provided by examination of three such disorders: ataxia-telangiectasia (A-T) caused by lack or inactivation of the ATM protein kinase, which mobilises the cellular response to double...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ataxia Telangiectasia
Share to Ataxia Telangiectasia Mutated Proteins
Share to Chromatin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomal Proteins, Non-Histone

Share to MRE11 Homologue Protein

Share to Radiation, Ionizing

Share to S Phase

Share to Structural Maintenance of Chromosome Protein 1

Source

Identifiers

PMID: 15279810
DOI: 10.1016/j.dnarep.2004.04.009

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.PMID 15279810Read ↗

Molecular basis of ataxia telangiectasia and related diseases.Semantic proximity Read ↗

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.Semantic proximity Read ↗

Ataxia-telangiectasia and related diseases.Semantic proximity Read ↗

Ataxia telangiectasia syndrome: moonlighting ATM.Semantic proximity Read ↗

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.Semantic proximity Read ↗

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.Semantic proximity Read ↗

The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle.Semantic proximity Read ↗

ATAXIA-TELANGIECTASIA AND THE NIJMEGEN BREAKAGE SYNDROME: Related Disorders But Genes ApartSemantic proximity Read ↗

NBS1 and its functional role in the DNA damage response.Semantic proximity Read ↗

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.Semantic proximity Read ↗

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functionsSemantic proximity Read ↗

Ataxia-telangiectasia and cellular responses to DNA damage.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.