(Q24318921)

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

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scholarly article

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

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1 reference

based on heuristic

inferred from title

TERF1 interacting nuclear factor 2

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GOA release 2020-03-11

regulation of telomere maintenance via telomere lengthening

1 reference

GOA release 2020-03-11

dyskeratosis congenita

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based on heuristic

inferred from title

author name string

Amanda J Walne

1

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Tom Vulliamy

2

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Richard Beswick

3

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Michael Kirwan

4

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Inderjeet Dokal

5

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language of work or name

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publication date

1 November 2008

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112

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9

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3594-600

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

Multiple sequence alignment with hierarchical clustering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

Shelterin: the protein complex that shapes and safeguards human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

TIN2 mediates functions of TRF2 at human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

19 March 2017

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

7 April 2017

Tethering telomeric double- and single-stranded DNA-binding proteins inhibits telomere elongation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

The role of telomere biology in bone marrow failure and other disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

Dyskeratosis Congenita: a historical perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

How telomeres are replicated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

In vivo telomere dynamics of human hematopoietic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

27 September 2017

Structure and polymorphism of human telomere-associated DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572788

29 November 2018

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/18669893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18669893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18669893

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2008-05-153445

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