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DNA helicases in inherited human disorders
scientific article published on June 1997
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
review article
1 reference
stated in
Europe PubMed Central
title
DNA helicases in inherited human disorders
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
author name string
Ellis NA
series ordinal
1
1 reference
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Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
publication date
1 June 1997
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Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
published in
Current Opinion in Genetics & Development
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stated in
Europe PubMed Central
PubMed ID
9229111
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2 October 2017
volume
7
1 reference
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Europe PubMed Central
PubMed ID
9229111
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2 October 2017
page(s)
354-363
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stated in
Europe PubMed Central
PubMed ID
9229111
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2 October 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
cites work
DNA helicases: new breeds of translocating motors and molecular pumps
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Crossref
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DNA helicases: enzymes with essential roles in all aspects of DNA metabolism
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Mechanisms of helicase-catalyzed DNA unwinding
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Crystal structure of a DExx box DNA helicase
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Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes
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reference URL
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Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions
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DNA excision repair
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ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3
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A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome
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Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function
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Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene
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Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
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DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor
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Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair
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The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity
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Human xeroderma pigmentosum group D gene encodes a DNA helicase
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Relationships between DNA repair and transcription
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Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
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p53 modulation of TFIIH-associated nucleotide excision repair activity
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The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway
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ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
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Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II
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Molecular mechanism of transcription-repair coupling.
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The SNF/SWI family of global transcriptional activators
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Characterization of the yeast SWI1, SWI2, and SWI3 genes, which encode a global activator of transcription
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Stimulation of GAL4 derivative binding to nucleosomal DNA by the yeast SWI/SNF complex
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DNA-binding properties of the yeast SWI/SNF complex
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Persistent site-specific remodeling of a nucleosome array by transient action of the SWI/SNF complex.
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A complex containing N-CoR, mSin3 and histone deacetylase mediates transcriptional repression
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Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression
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Roles of SWI1, SWI2, and SWI3 proteins for transcriptional enhancement by steroid receptors
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Diversity and specialization of mammalian SWI/SNF complexes
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brahma: a regulator of Drosophila homeotic genes structurally related to the yeast transcriptional activator SNF2/SWI2
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ISWI, a member of the SWI2/SNF2 ATPase family, encodes the 140 kDa subunit of the nucleosome remodeling factor
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A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor
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BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription
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Cloning of an SNF2/SWI2-related protein that binds specifically to the SPH motifs of the SV40 enhancer and to the HIV-1 promoter
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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
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The alpha-thalassemia/mental retardation syndromes
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XNP mutation in a large family with Juberg-Marsidi syndrome
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Cloning and characterization of a new human Xq13 gene, encoding a putative helicase
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Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
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The Bloom's syndrome gene product is homologous to RecQ helicases
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Positional cloning of the Werner's syndrome gene
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Variegated translocation mosaicism in human skin fibroblast cultures
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Elevated spontaneous mutation rate in Bloom syndrome fibroblasts
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Mutator phenotype of Werner syndrome is characterized by extensive deletions
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Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1.
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A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21.
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Genetic linkage of Werner's syndrome to five markers on chromosome 8
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Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
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Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population
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7 January 2021
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Analysis of helicase gene mutations in Japanese Werner's syndrome patients
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Homozygous and compound heterozygous mutations at the Werner syndrome locus
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Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12
1 reference
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Isolation and genetic characterization of a thymineless death-resistant mutant of Escherichia coli K12: identification of a new mutation (recQ1) that blocks the RecF recombination pathway.
1 reference
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Escherichia coli RecQ protein is a DNA helicase
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Bloom Syndrome
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The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase
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Sgs1: a eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation
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Human homologues of yeast helicase
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rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2897%2980149-9
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7 January 2021
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Identifiers
DOI
10.1016/S0959-437X(97)80149-9
1 reference
stated in
Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
PubMed ID
9229111
1 reference
stated in
Europe PubMed Central
PubMed ID
9229111
retrieved
2 October 2017
ResearchGate publication ID
13990778
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