相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。RecQ helicases: guardian angels of the DNA replication fork
Csanad Z. Bachrati et al.
CHROMOSOMA (2008)
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes
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EUROPEAN JOURNAL OF PEDIATRICS (2008)
Nuclear import and retention domains in the amino terminus of RECQL4
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Molecular genetics of RecQ helicase disorders
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Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability
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Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency
MA Broom et al.
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Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome
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Revisiting the craniosynostosis-radial ray hypoplasia association:: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
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JOURNAL OF MEDICAL GENETICS (2006)
The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability
M Petkovic et al.
JOURNAL OF CELL SCIENCE (2005)
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome
MN Sangrithi et al.
CELL (2005)
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO
R Kellermayer et al.
ARCHIVES OF DERMATOLOGY (2005)
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome
MB Mann et al.
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RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway
JH Yin et al.
HUMAN MOLECULAR GENETICS (2004)
Growth retardation and skin abnormalities of the Recq/4-deficient mouse
Y Hoki et al.
HUMAN MOLECULAR GENETICS (2003)
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient
A Beghini et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases
HA Siitonen et al.
HUMAN MOLECULAR GENETICS (2003)
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome
P Balraj et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2002)
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome
LL Wang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Overlap between Baller-Gerold and Rothmund-Thomson syndrome
A Mégarbané et al.
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Radial aplasia, poikiloderma and auto-immune enterocolitis - new syndrome or severe form of Rothmund-Thomson syndrome?
Y Hilhorst-Hofstee et al.
CLINICAL DYSMORPHOLOGY (2000)
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