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

DNA helicases in inherited human disorders.

Current opinion in genetics & development - 1 Jun 1997

Ellis N A

Abstract excerpt

Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnorma...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to DNA Helicases
Share to DNA Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Diseases, Inborn

Share to Molecular Sequence Data

Share to Mutation

Share to Transcription Factors

Source

Identifiers

PMID: 9229111
DOI: 10.1016/s0959-437x(97)80149-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9229111-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA helicases in inherited human disorders.PMID 9229111Read ↗

DNA repair helicases: from mechanistic understanding to therapeutic implications.Semantic proximity Read ↗

Helicases and aging.Semantic proximity Read ↗

DNA helicases, genomic instability, and human genetic disease.Semantic proximity Read ↗

Werner syndrome: entering the helicase era.Semantic proximity Read ↗

DNA helicases associated with genetic instability, cancer, and aging.Semantic proximity Read ↗

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsSemantic proximity Read ↗

Hereditary cancer syndromesSemantic proximity Read ↗

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.Semantic proximity Read ↗

[DNA helicases and progeroid syndromes].Semantic proximity Read ↗

An overview of RecQ helicases and related diseases.Semantic proximity Read ↗

Rare hereditary diseases with defects in DNA-repair.Semantic proximity Read ↗

Human RecQ Helicases in DNA Double-Strand Break RepairSemantic proximity Read ↗

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