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Article

The versatile RECQL4.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2006

Kellermayer Richard

Abstract excerpt

The human DNA helicase RECQL4 interacts in an array of intracellular regulatory pathways from the initiation of DNA replication, through maintaining genomic stability, to the N-end rule pathway. Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also. Although these disorders represent distinct genetic entities,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16617241
DOI: 10.1097/01.gim.0000214457.58378.1a

Genes

RECQL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The versatile RECQL4.PMID 16617241Read ↗

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.Semantic proximity Read ↗

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replicationSemantic proximity Read ↗

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.Semantic proximity Read ↗

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.Semantic proximity Read ↗

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

The mutation spectrum in RECQL4 diseases.Semantic proximity Read ↗

Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.Semantic proximity Read ↗

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4.Semantic proximity Read ↗

Rothmund–Thomson Syndrome Responsible Gene, RECQL4: Genomic Structure and ProductsSemantic proximity Read ↗

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

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.Semantic proximity Read ↗

Functional characterisation of a RECQL4 mutation in Rothmund-Thomson syndromeSemantic proximity Read ↗

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