Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
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Rothmund-Thomson syndromeHuman RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.Nuclear structure in normal and Bloom syndrome cellsKu complex interacts with and stimulates the Werner proteinReplication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activityPotent inhibition of werner and bloom helicases by DNA minor groove binding drugsCharacterization of the human and mouse WRN 3'-->5' exonucleaseThe Bloom's and Werner's syndrome proteins are DNA structure-specific helicasesBLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrityHuman RECQL5 participates in the removal of endogenous DNA damageWRN helicase and FEN-1 form a complex upon replication arrest and together process branchmigrating DNA structures associated with the replication forkStimulation of flap endonuclease-1 by the Bloom's syndrome proteinRegulation of WRN protein cellular localization and enzymatic activities by SIRT1-mediated deacetylationFunctional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D)Recql5 and Blm RecQ DNA helicases have nonredundant roles in suppressing crossovers.Identification of delta helicase as the bovine homolog of HUPF1: demonstration of an interaction with the third subunit of DNA polymerase delta.The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalphaDirect association of Bloom's syndrome gene product with the human mismatch repair protein MLH1Cleavage of the Bloom's syndrome gene product during apoptosis by caspase-3 results in an impaired interaction with topoisomerase IIIalphaThe RecQ DNA helicases in DNA repairHuman RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biologyIntron-size constraint as a mutational mechanism in Rothmund-Thomson syndromeRoles of Werner syndrome protein in protection of genome integrityRoles of RECQ helicases in recombination based DNA repair, genomic stability and agingA multiprotein nuclear complex connects Fanconi anemia and Bloom syndromeManipulating mitotic recombination in the zebrafish embryo through RecQ helicasesDomain mapping of Escherichia coli RecQ defines the roles of conserved N- and C-terminal regions in the RecQ familyThe Bloom's syndrome gene product promotes branch migration of holliday junctionsHuman premature aging, DNA repair and RecQ helicasesThe C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stabilitySrs2 and RecQ homologs cooperate in mei-3-mediated homologous recombination repair of Neurospora crassa.Evidence that the S.cerevisiae Sgs1 protein facilitates recombinational repair of telomeres during senescence.Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteinsWhat Do We Know about the Role of miRNAs in Pediatric Sarcoma?High-resolution structure of the E.coli RecQ helicase catalytic coreStructure and function of the regulatory C-terminal HRDC domain from Deinococcus radiodurans RecQStructure of the human RECQ1 helicase reveals a putative strand-separation pinStructure and function of the regulatory HRDC domain from human Bloom syndrome proteinRmi1, a member of the Sgs1-Top3 complex in budding yeast, contributes to sister chromatid cohesionOpposing roles for DNA structure-specific proteins Rad1, Msh2, Msh3, and Sgs1 in yeast gene targeting.
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P2860
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@ast
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en-gb
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@nl
type
label
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@ast
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en-gb
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@nl
prefLabel
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@ast
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en-gb
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@nl
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P3181
P356
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P1476
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
@en
P2093
A Shimamoto
N M Lindor
R W Miller
W A Smithson
Y Furuichi
P2888
P3181
P356
10.1038/8788
P407
P577
1999-05-01T00:00:00Z
P5875
P6179
1035046153