(Q36436735)

14 August 2017

Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase (English)

1 reference

14 August 2017

Hamed Mirzaei

1

1 reference

PMCID

3511070

14 August 2017

Kristina H Schmidt

series ordinal

2

1 reference

PMCID

3511070

14 August 2017

language of work or name

English

0 references

publication date

5 November 2012

1 reference

Proceedings of the National Academy of Sciences of the United States of America

14 August 2017

1 reference

14 August 2017

109

1 reference

14 August 2017

47

1 reference

14 August 2017

19357-19362

1 reference

Sgs1 truncations induce genome rearrangements but suppress detrimental effects of BLM overexpression in Saccharomyces cerevisiae

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Structure of the human RECQ1 helicase reveals a putative strand-separation pin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Sit down, relax and unwind: structural insights into RecQ helicase mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Coupling DNA-binding and ATP hydrolysis in Escherichia coli RecQ: role of a highly conserved aromatic-rich sequence

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Yeast transformation by the LiAc/SS Carrier DNA/PEG method

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Structure and function of RecQ DNA helicases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

High-resolution structure of the E.coli RecQ helicase catalytic core

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

RecQ helicases: caretakers of the genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Defining the roles of individual residues in the single-stranded DNA binding site of PcrA helicase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Potential role for the BLM helicase in recombinational repair via a conserved interaction with RAD51

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Bipartite structure of the SGS1 DNA helicase in Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Site-directed mutagenesis of motif III in PcrA helicase reveals a role in coupling ATP hydrolysis to strand separation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

DNA binding mediates conformational changes and metal ion coordination in the active site of PcrA helicase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Crystal structures of complexes of PcrA DNA helicase with a DNA substrate indicate an inchworm mechanism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Comparisons between the structures of HCV and Rep helicases reveal structural similarities between SF1 and SF2 super-families of helicases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Hepatitis C virus NS3 RNA helicase domain with a bound oligonucleotide: the crystal structure provides insights into the mode of unwinding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Major domain swiveling revealed by the crystal structures of complexes of E. coli Rep helicase bound to single-stranded DNA and ADP

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Bloom's syndrome. XX. The first 100 cancers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Bloom's syndrome. XII. Report from the Registry for 1987.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Molecular evidence that homologous recombination occurs in proliferating human somatic cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

An abnormal profile of DNA replication intermediates in Bloom's syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Heterozygosity for the BLM(Ash) mutation and cancer risk

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511070

CONGENITAL TELANGIECTATIC ERYTHEMA RESEMBLING LUPUS ERYTHEMATOSUS IN DWARFS Probably a Syndrome Entity

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1210304109

Colorectal cancer and polymorphisms in DNA repair genes WRN , RMI1 and BLM

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1210304109

Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility

21 January 2018

1 reference

12 December 2020

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

1 reference

12 December 2020

BLM heterozygosity and the risk of colorectal cancer

1 reference

12 December 2020

Enhanced tumor formation in mice heterozygous for Blm mutation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1210304109

1 reference

14 August 2017

0 references

1 reference

14 August 2017

1 reference

PMCID

3511070