RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance (Q28771762)

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance (English)

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

Protection of telomeres 1

15 January 2020

main subject

1 reference

RecQ like helicase 4

1 reference

Werner syndrome RecQ like helicase

1 reference

telomeric repeat binding factor 1

1 reference

Telomeric repeat binding factor 2

1 reference

telomeric D-loop disassembly

1 reference

Rothmund-Thomson syndrome

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

8

Vilhelm A Bohr

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Dharmendra Kumar Singh

3

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Christopher Dunn

4

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Yie Liu

7

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Avik K Ghosh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Marie L Rossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Deborah L Croteau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

0 references

publication date

28 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

number of pages

14

1 reference

Journal of Biological Chemistry

inferred from page(s)

published in

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

287

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

1

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

196-209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

15 January 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3249070/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Rothmund-Thomson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The Werner syndrome helicase and exonuclease cooperate to resolve telomeric D loops in a manner regulated by TRF1 and TRF2

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Oligomeric ring structure of the Bloom's syndrome helicase

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Mammalian telomeres end in a large duplex loop

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Telomeres shorten during ageing of human fibroblasts

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

How shelterin protects mammalian telomeres

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Regulation of telomerase by telomeric proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

DNA damage foci at dysfunctional telomeres

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

RecQ helicases: caretakers of the genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Protection of mammalian telomeres

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Reverse transcriptase motifs in the catalytic subunit of telomerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Positional cloning of the Werner's syndrome gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

TLC1: template RNA component of Saccharomyces cerevisiae telomerase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Hyper telomere recombination accelerates replicative senescence and may promote premature aging

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The Werner syndrome protein suppresses telomeric instability caused by chromium (VI) induced DNA replication stress

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

FEN1 ensures telomere stability by facilitating replication fork re-initiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Characterization of oxidative guanine damage and repair in mammalian telomeres

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The involvement of human RECQL4 in DNA double-strand break repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

RecQ helicases: multifunctional genome caretakers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Direct and indirect roles of RECQL4 in modulating base excision repair capacity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The mutation spectrum in RECQL4 diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

How telomeres are replicated

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Replication and protection of telomeres

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Mechanisms of common fragile site instability.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Frequent recombination in telomeric DNA may extend the proliferative life of telomerase-negative cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

T-loops and the origin of telomeres

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Enzymatic and DNA binding properties of purified WRN protein: high affinity binding to single-stranded DNA but not to DNA damage induced by 4NQO.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Telomeres in the mouse have large inter-chromosomal variations in the number of T2AG3 repeats

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

Rothmund-Thomson syndrome: review of the world literature

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3249070

The Human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities.

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M111.295063

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M111.295063

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M111.295063

The DNA damage machinery and homologous recombination pathway act consecutively to protect human telomeres

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22039056

12 December 2020

inferred from PubMed ID database lookup

Quantitative colocalization analysis of confocal fluorescence microscopy images

1 reference

https://pubmed.ncbi.nlm.nih.gov/22039056

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1074/JBC.M111.295063

2 references

14 February 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22039056%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

2 references

14 February 2017