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

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.

Cell - 1 May 1992

Barnes D E, Tomkinson A E, Lehmann A R, Webster A D, Lindahl T

Abstract excerpt

Two missense mutations occurring in different alleles of the DNA ligase I gene, encoding the major DNA ligase in proliferating mammalian cells, were detected in a human fibroblast strain (46BR). These cells exhibit retarded joining of Okazaki fragments during DNA replication and hypersensitivity to a variety of DNA-damaging agents. 46BR was derived from a patient who displayed symptoms of immunodeficiency,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to Cells, Cultured

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

Share to DNA Repair

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Sequence Alignment

Source

Identifiers

PMID: 1581963
DOI: 10.1016/0092-8674(92)90450-q

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.PMID 1581963Read ↗

Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.Semantic proximity Read ↗

Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity.Semantic proximity Read ↗

Altered DNA ligase activity in human diseaseSemantic proximity Read ↗

Specific function of DNA ligase I in simian virus 40 DNA replication by human cell-free extracts is mediated by the amino-terminal non-catalytic domain.Semantic proximity Read ↗

DNA ligase I deficiency in Bloom's syndrome.Semantic proximity Read ↗

Ligase IV syndrome.Semantic proximity Read ↗

A newly identified DNA ligase of Saccharomyces cerevisiae involved in RAD52-independent repair of DNA double-strand breaks.Semantic proximity Read ↗

DNA ligase IV syndrome; a review.Semantic proximity Read ↗

Genetic interactions between BLM and DNA ligase IV in human cells.Semantic proximity Read ↗

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.Semantic proximity Read ↗

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.Semantic proximity Read ↗

Genetic evidence for the involvement of DNA ligase IV in the DNA-PK-dependent pathway of non-homologous end joining in mammalian cells.Semantic proximity Read ↗

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