PMID: 16617241Apr 18, 2006Paper

The versatile RECQL4

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Richard Kellermayer

Abstract

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, clinical observations have delineated highly variable expressivity and significant overlaps in the associated phenotypic manifestations. Consequently, it is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with.

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Citations

Jun 26, 2012·Nucleic Acids Research·Oliver OhlenschlägerHelmut Pospiech
Nov 4, 2010·Cancer Research·Yanrong SuAdayabalam S Balajee
Mar 18, 2009·American Journal of Medical Genetics. Part a·Marusa DebeljakJanez Jazbec
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Feb 16, 2010·Methods : a Companion to Methods in Enzymology·Kambiz Tahmaseb, Steven W Matson

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