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Disease-causing missense mutations in human DNA helicase disorders
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title
Disease-causing missense mutations in human DNA helicase disorders
(English)
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PubMed
author name string
Avvaru N. Suhasini
series ordinal
1
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Crossref
Robert M. Brosh
series ordinal
2
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
2013
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stated in
PubMed
published in
Mutation Research
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PubMed
volume
752
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stated in
PubMed
issue
2
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stated in
PubMed
page(s)
138-52
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PubMed
cites work
Molecular pathogenesis and clinical management of Fanconi anemia
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PubMed Central
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Therapeutic rescue of misfolded mutants: validation of primary high throughput screens for identification of pharmacoperone drugs
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7 April 2017
BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair
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PubMed Central
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7 April 2017
Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome
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PubMed Central
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7 April 2017
The RecQ DNA helicases in DNA repair
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PubMed Central
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7 April 2017
Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology
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PubMed Central
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7 April 2017
SF1 and SF2 helicases: family matters
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PubMed Central
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7 April 2017
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1
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PubMed Central
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7 April 2017
Rothmund-Thomson syndrome
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PubMed Central
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7 April 2017
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
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PubMed Central
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7 April 2017
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations
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PubMed Central
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7 April 2017
Human premature aging, DNA repair and RecQ helicases
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PubMed Central
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7 April 2017
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein
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PubMed Central
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7 April 2017
The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells
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PubMed Central
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7 April 2017
Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair
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PubMed Central
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7 April 2017
The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
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7 April 2017
The spectrum of WRN mutations in Werner syndrome patients
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PubMed Central
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7 April 2017
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases
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PubMed Central
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7 April 2017
Structural and functional characterizations reveal the importance of a zinc binding domain in Bloom's syndrome helicase
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PubMed Central
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7 April 2017
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
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7 April 2017
The BRCT Domain Is a Phospho-Protein Binding Domain
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
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7 April 2017
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein
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PubMed Central
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7 April 2017
Diverged nuclear localization of Werner helicase in human and mouse cells
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PubMed Central
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7 April 2017
BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function
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PubMed Central
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7 April 2017
Oligomeric ring structure of the Bloom's syndrome helicase
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PubMed Central
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7 April 2017
The Bloom's syndrome gene product is homologous to RecQ helicases
1 reference
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PubMed Central
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7 April 2017
Functional and structural studies of the nucleotide excision repair helicase XPD suggest a polarity for DNA translocation
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PubMed Central
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7 April 2017
RecQ helicases in DNA double strand break repair and telomere maintenance
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PubMed Central
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7 April 2017
Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN
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PubMed Central
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7 April 2017
Structure of the human RECQ1 helicase reveals a putative strand-separation pin
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7 April 2017
Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD
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7 April 2017
Structure of the DNA Repair Helicase XPD
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PubMed Central
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7 April 2017
Structure of the DNA Repair Helicase Hel308 Reveals DNA Binding and Autoinhibitory Domains
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PubMed Central
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7 April 2017
Structural basis for DNA duplex separation by a superfamily-2 helicase
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PubMed Central
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7 April 2017
UvrD helicase unwinds DNA one base pair at a time by a two-part power stroke
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PubMed Central
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7 April 2017
High-resolution structure of the E.coli RecQ helicase catalytic core
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7 April 2017
Structural analysis of DNA replication fork reversal by RecG
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7 April 2017
Crystal structure of UvrB, a DNA helicase adapted for nucleotide excision repair
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PubMed Central
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7 April 2017
Crystal structures of complexes of PcrA DNA helicase with a DNA substrate indicate an inchworm mechanism
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7 April 2017
Structure of the hepatitis C virus RNA helicase domain
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7 April 2017
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains
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PubMed Central
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7 April 2017
Chl1p, a DNA helicase-like protein in budding yeast, functions in sister-chromatid cohesion
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PubMed Central
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7 April 2017
The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2
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7 April 2017
Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability
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7 April 2017
Functional interaction of p53 and BLM DNA helicase in apoptosis
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7 April 2017
Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal
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7 April 2017
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints
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7 April 2017
The Werner syndrome protein has separable recombination and survival functions
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7 April 2017
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome
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7 April 2017
RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity
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7 April 2017
Genetic signatures of exceptional longevity in humans
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7 April 2017
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein
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7 April 2017
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality
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7 April 2017
The Bloom's syndrome helicase suppresses crossing over during homologous recombination
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7 April 2017
Playing the end game: DNA double-strand break repair pathway choice
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7 April 2017
Double-strand break end resection and repair pathway choice
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7 April 2017
Structure and mechanism of helicases and nucleic acid translocases
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7 April 2017
Structural basis for RNA unwinding by the DEAD-box protein Drosophila Vasa
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7 April 2017
Positional cloning of the Werner's syndrome gene
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7 April 2017
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome
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28 September 2017
Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures
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28 September 2017
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity
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28 September 2017
RTEL1 contributes to DNA replication and repair and telomere maintenance.
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28 September 2017
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function
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28 September 2017
Shining a light on xeroderma pigmentosum
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28 September 2017
Defects in mitochondrial DNA replication and human disease
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28 September 2017
Iron-sulphur clusters in nucleic acid processing enzymes
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28 September 2017
Biochemical characterization of Warsaw breakage syndrome helicase
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28 September 2017
Regulation of translocation polarity by helicase domain 1 in SF2B helicases
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28 September 2017
The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA.
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28 September 2017
DNA interstrand crosslink repair and cancer
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28 September 2017
A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.
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28 September 2017
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
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28 September 2017
Winged helix domains with unknown function in Hel308 and related helicases.
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28 September 2017
Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress
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28 September 2017
Helicase-inactivating mutations as a basis for dominant negative phenotypes
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28 September 2017
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
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28 September 2017
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
BLM has early and late functions in homologous recombination repair in mouse embryonic stem cells.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
RecQ4: the second replicative helicase?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Probing the structural basis of RecQ helicase function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
RTEL-1 enforces meiotic crossover interference and homeostasis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The long unwinding road: XPB and XPD helicases in damaged DNA opening.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Werner syndrome gene variants in human sarcomas
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Dissolution of double Holliday junctions by the concerted action of BLM and topoisomerase IIIalpha
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
RecQ helicases: multifunctional genome caretakers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Replication stress induces sister-chromatid bridging at fragile site loci in mitosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Hitting the bull's eye: novel directed cancer therapy through helicase-targeted synthetic lethality
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
FANCJ uses its motor ATPase to destabilize protein-DNA complexes, unwind triplexes, and inhibit RAD51 strand exchange
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
XPD structure reveals its secrets
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Translocation and unwinding mechanisms of RNA and DNA helicases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Non-hexameric DNA helicases and translocases: mechanisms and regulation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Inhibition of BACH1 (FANCJ) helicase by backbone discontinuity is overcome by increased motor ATPase or length of loading strand.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Mechanisms of helicases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The newly discovered Q motif of DEAD-box RNA helicases regulates RNA-binding and helicase activity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled replication forks
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
WRN, the protein deficient in Werner syndrome, plays a critical structural role in optimizing DNA repair
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The Newly Identified Q Motif of DEAD Box Heicases IS Involved in Adenine Recognition
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The Q motif: a newly identified motif in DEAD box helicases may regulate ATP binding and hydrolysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Rescuing the function of mutant p53.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Bloom's syndrome. XX. The first 100 cancers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Mechanisms of helicase-catalyzed DNA unwinding
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Genetics and aging; the Werner syndrome as a segmental progeroid syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 September 2017
Kinetic mechanism of DNA unwinding by the BLM helicase core and molecular basis for its low processivity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
31 May 2018
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
31 May 2018
CHL-1 provides an essential function affecting cell proliferation and chromosome stability in Caenorhabditis elegans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Superfamily I helicases as modular components of DNA-processing machines.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
The iron-containing domain is essential in Rad3 helicases for coupling of ATP hydrolysis to DNA translocation and for targeting the helicase to the single-stranded DNA-double-stranded DNA junction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Loss of ChlR1 helicase in mouse causes lethality due to the accumulation of aneuploid cells generated by cohesion defects and placental malformation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Werner syndrome protein 1367 variants and disposition towards coronary artery disease in Caucasian patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640642
retrieved
28 November 2018
Human diseases deficient in RecQ helicases
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23276657
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23276657
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Werner syndrome and mutations of the WRN and LMNA genes in France
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23276657
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.MRREV.2012.12.004
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836191
Fatcat ID
release_epywggsfkvdebezh4u4o4rhepy
0 references
OpenCitations bibliographic resource ID
4836191
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836191
PMC publication ID
3640642
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836191
PubMed publication ID
23276657
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4836191
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