(Q21090064)

2

Elly

Ordan

1 reference

14 July 2022

Rotem Shponkin

3

Rotem

Shponkin

1 reference

14 July 2022

Carmelit Richler

4

Carmelit

Richler

1 reference

14 July 2022

Memet Aker

5

Memet

Aker

1 reference

14 July 2022

Yehuda Tzfati

6

Yehuda

Creative Commons Attribution 4.0 International

Tzfati

1 reference

14 July 2022

language of work or name

English

0 references

publication date

2009

0 references

published in

PLOS One

0 references

volume

4

0 references

issue

5

0 references

page(s)

e5666

0 references

copyright license

start time

22 May 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomere protection by mammalian Pot1 requires interaction with Tpp1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

The POT1-TPP1 telomere complex is a telomerase processivity factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

The telomeric protein TRF2 binds the ATM kinase and can inhibit the ATM-dependent DNA damage response

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

A telomerase component is defective in the human disease dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Mammalian telomeres end in a large duplex loop

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Single-stranded DNA arising at telomeres in cdc13 mutants may constitute a specific signal for the RAD9 checkpoint

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Shelterin: the protein complex that shapes and safeguards human telomeres

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

DNA damage foci at dysfunctional telomeres

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Dyskerin, telomerase and the DNA damage response

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomeres in drag: Dressing as DNA damage to engage telomerase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomere maintenance and human bone marrow failure

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomere uncapping and alternative lengthening of telomeres

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Quantitative telomeric overhang determination using a double-strand specific nuclease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Dyskeratosis congenita: a genetic disorder of many faces

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

How telomeres are replicated

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Cellular senescence in cancer and aging

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Replication and protection of telomeres

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

The structure and function of telomerase reverse transcriptase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

An overhanging 3' terminus is a conserved feature of telomeres

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Telomerase-independent regulation of ATR by human telomerase RNA.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Immortalization of immunologically committed Epstein-Barr virus-transformed human B-lymphoblastoid cell lines accompanied by a strong telomerase activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Advances in quantification and characterization of telomerase activity by the telomeric repeat amplification protocol (TRAP).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680952

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

27 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005666

The Shortest Telomere, Not Average Telomere Length, Is Critical for Cell Viability and Chromosome Stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005666

Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005666

Measurements of telomere length on individual chromosomes by image cytometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0005666

Erosion of the telomeric single-strand overhang at replicative senescence

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19461895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19461895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19461895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0005666

1 reference

release_luy4mwqxszddbgaiidjwxciluq

0 references

0 references

2297633

1 reference

1 reference

1 reference