(Q33943465)

30 July 2017

title

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations (English)

1 reference

30 July 2017

Anna Marrone

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30 July 2017

Priya Sokhal

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30 July 2017

Amanda Walne

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30 July 2017

Richard Beswick

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30 July 2017

Michael Kirwan

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30 July 2017

Sally Killick

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30 July 2017

Mike Williams

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30 July 2017

Judith Marsh

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30 July 2017

Tom Vulliamy

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30 July 2017

Inderjeet Dokal

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30 July 2017

language of work or name

1 reference

20 July 2007

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30 July 2017

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30 July 2017

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30 July 2017

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30 July 2017

page(s)

1013-1020

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

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Dyskeratosis congenita: telomerase, telomeres and anticipation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Functional analysis of the pseudoknot structure in human telomerase RNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Structure of the human telomerase RNA pseudoknot reveals conserved tertiary interactions essential for function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Functional characterization of telomerase RNA variants found in patients with hematologic disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Template boundary definition in mammalian telomerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Comprehensive structure-function analysis of the core domain of human telomerase RNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Roles for RNA in telomerase nucleotide and repeat addition processivity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Determinants in mammalian telomerase RNA that mediate enzyme processivity and cross-species incompatibility

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Minimum length requirement of the alignment domain of human telomerase RNA to sustain catalytic activity in vitro

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Late clonal diseases of treated aplastic anemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

In vivotelomere dynamics of human hematopoietic stem cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Human telomerase RNA template sequence is a determinant of telomere repeat extension rate

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Telomerase RNA structure and function: implications for dyskeratosis congenita.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Telomerase recognizes its template by using an adjacent RNA motif

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

Secondary structure of vertebrate telomerase RNA

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892775

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

29 October 2018

1 reference

12 December 2020

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

1 reference

12 December 2020

TERC mutations in children with refractory cytopenia

1 reference

12 December 2020

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020

Human telomerase RNA mutations and bone marrow failure

1 reference

12 December 2020

Effect of dGTP concentration on human and CHO telomerase

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.3324/HAEMATOL.11407

1 reference

30 July 2017

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30 July 2017

1 reference