ATP-abhängige DNA-Helikase Q4

Kitao S et al. (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.

Lindor NM et al. (2000) Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.

Mohaghegh P et al. (2001) DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders.

Wang LL et al. (2003) Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

Beghini A et al. (2003) RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

Hoki Y et al. (2003) Growth retardation and skin abnormalities of the Recql4-deficient mouse.

Siitonen HA et al. (2003) Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Yin J et al. (2004) RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.

Mann MB et al. (2005) Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.

Van Maldergem L et al. (2006) Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Siitonen HA et al. (2009) The mutation spectrum in RECQL4 diseases.

Schurman SH et al. (2009) Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

Uwanogho DA et al. (2010) The intergenic region between the Mouse Recql4 and Lrrc14 genes functions as an evolutionary conserved bidirectional promoter.

Simon T et al. (2010) Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Kitao S et al. (1998) Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.