DNA helicases in inherited human disorders (Q41536284)

2 October 2017

title

DNA helicases in inherited human disorders (English)

1 reference

2 October 2017

N. A. Ellis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9229111

8 November 2024

publication date

1 June 1997

1 reference

2 October 2017

June 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9229111

8 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9229111

https://api.elsevier.com/content/article/PII:S0959437X97801499?httpAccept=text/xml

8 November 2024

work available at URL

1 reference

https://api.crossref.org/works/10.1016/S0959-437X(97)80149-9

https://api.elsevier.com/content/article/PII:S0959437X97801499?httpAccept=text/plain

8 November 2024

1 reference

https://api.crossref.org/works/10.1016/S0959-437X(97)80149-9

Current Opinion in Genetics & Development

8 November 2024

published in

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2 October 2017

volume

7

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2 October 2017

issue

3

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2 October 2017

page(s)

354-363

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publication type of scholarly work

2 October 2017

review article

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DNA helicases: new breeds of translocating motors and molecular pumps

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7 January 2021

DNA helicases: enzymes with essential roles in all aspects of DNA metabolism

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7 January 2021

Mechanisms of helicase-catalyzed DNA unwinding

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7 January 2021

Crystal structure of a DExx box DNA helicase

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7 January 2021

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7 January 2021

Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions

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7 January 2021

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7 January 2021

ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3

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7 January 2021

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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7 January 2021

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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7 January 2021

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene

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7 January 2021

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

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7 January 2021

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

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7 January 2021

Dual roles of a multiprotein complex from S. cerevisiae in transcription and DNA repair

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7 January 2021

The xeroderma pigmentosum group B protein ERCC3 produced in the baculovirus system exhibits DNA helicase activity

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7 January 2021

Human xeroderma pigmentosum group D gene encodes a DNA helicase

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7 January 2021

Relationships between DNA repair and transcription

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7 January 2021

Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G

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7 January 2021

p53 modulation of TFIIH–associated nucleotide excision repair activity

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7 January 2021

The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway

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7 January 2021

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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7 January 2021

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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7 January 2021

Molecular mechanism of transcription-repair coupling

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7 January 2021

The SNF/SWI family of global transcriptional activators

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7 January 2021

Characterization of the yeast SWI1, SWI2, and SWI3 genes, which encode a global activator of transcription

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7 January 2021

Stimulation of GAL4 derivative binding to nucleosomal DNA by the yeast SWI/SNF complex

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7 January 2021

DNA-binding properties of the yeast SWI/SNF complex

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7 January 2021

Persistent site-specific remodeling of a nucleosome array by transient action of the SWI/SNF complex

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7 January 2021

A complex containing N-CoR, mSin3 and histone deacetylase mediates transcriptional repression

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7 January 2021

Role for N-CoR and histone deacetylase in Sin3-mediated transcriptional repression

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7 January 2021

Roles of SWI1, SWI2, and SWI3 proteins for transcriptional enhancement by steroid receptors

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7 January 2021

Diversity and specialization of mammalian SWI/SNF complexes

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7 January 2021

brahma: a regulator of Drosophila homeotic genes structurally related to the yeast transcriptional activator SNF2/SWI2

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7 January 2021

ISWI, a member of the SWI2/SNF2 ATPase family, encodes the 140 kDa subunit of the nucleosome remodeling factor

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7 January 2021

A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor

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7 January 2021

BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription

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7 January 2021

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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7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

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7 January 2021

The alpha-thalassemia/mental retardation syndromes

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7 January 2021

XNP mutation in a large family with Juberg-Marsidi syndrome

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7 January 2021

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

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7 January 2021

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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7 January 2021

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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7 January 2021

The Bloom's syndrome gene product is homologous to RecQ helicases

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7 January 2021

Positional cloning of the Werner's syndrome gene

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7 January 2021

Variegated translocation mosaicism in human skin fibroblast cultures

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7 January 2021

Elevated spontaneous mutation rate in Bloom syndrome fibroblasts

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7 January 2021

Mutator phenotype of Werner syndrome is characterized by extensive deletions

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7 January 2021

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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7 January 2021

A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21.

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7 January 2021

Genetic linkage of Werner's syndrome to five markers on chromosome 8

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7 January 2021

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1

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7 January 2021

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

Analysis of helicase gene mutations in Japanese Werner's syndrome patients

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7 January 2021

Homozygous and compound heterozygous mutations at the Werner syndrome locus

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Escherichia coli RecQ protein is a DNA helicase

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7 January 2021

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7 January 2021

The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase

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7 January 2021

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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7 January 2021

Human homologues of yeast helicase

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7 January 2021

rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest

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7 January 2021

Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3

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Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy

8 November 2024

16

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A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

8 November 2024

46

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Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome

8 November 2024

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Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers

8 November 2024

62

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Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ

8 November 2024

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Excess of rare cancers in Werner syndrome (adult progeria)

8 November 2024

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8 November 2024

Identifiers

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2 October 2017

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