(Q36786840)

16 August 2017

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

1 reference

16 August 2017

0 references

0 references

Bai-Wei Gu

1

1 reference

16 August 2017

Monica Bessler

series ordinal

2

1 reference

16 August 2017

Philip J Mason

series ordinal

3

1 reference

16 August 2017

language of work or name

English

0 references

publication date

14 July 2008

1 reference

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

16 August 2017

1 reference

16 August 2017

105

1 reference

16 August 2017

29

1 reference

16 August 2017

10173-10178

1 reference

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

DNA repair is crucial for maintaining hematopoietic stem cell function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Spreading of mammalian DNA-damage response factors studied by ChIP-chip at damaged telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Protein composition of catalytically active human telomerase from immortal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Short telomeres, even in the presence of telomerase, limit tissue renewal capacity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Shelterin: the protein complex that shapes and safeguards human telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Extratelomeric functions of telomerase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

The many facets of H/ACA ribonucleoproteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

T-loops and the origin of telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

A DNA damage checkpoint response in telomere-initiated senescence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

DNA damage foci at dysfunctional telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Preferential maintenance of critically short telomeres in mammalian cells heterozygous for mTert.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

A telomerase component is defective in the human disease dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Disease states associated with telomerase deficiency appear earlier in mice with short telomeres

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Telomerase extends the lifespan of virus-transformed human cells without net telomere lengthening

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Cell cycle-regulated generation of single-stranded G-rich DNA in the absence of telomerase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Tumor spectrum analysis in p53-mutant mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

The telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Telomeres shorten during ageing of human fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

The two-stage mechanism controlling cellular senescence and immortalization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

27 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0803559105

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2481326

Long-term repopulating ability of telomerase-deficient murine hematopoietic stem cells

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18626023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A role for both RB and p53 in the regulation of human cellular senescence

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18626023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dyskeratosis congenita

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18626023

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0803559105

1 reference

16 August 2017

0 references

1 reference

16 August 2017

PubMed publication ID

18626023

1 reference