Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations (Q33943465)

30 July 2017

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

1 reference

30 July 2017

Anna Marrone

1

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30 July 2017

Priya Sokhal

2

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30 July 2017

Amanda Walne

3

1 reference

30 July 2017

Richard Beswick

4

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30 July 2017

Michael Kirwan

5

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30 July 2017

Sally Killick

6

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30 July 2017

Mike Williams

7

1 reference

30 July 2017

Judith Marsh

8

1 reference

30 July 2017

Tom Vulliamy

9

1 reference

30 July 2017

Inderjeet Dokal

10

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30 July 2017

language of work or name

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20 July 2007

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30 July 2017

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30 July 2017

92

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30 July 2017

8

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30 July 2017

1013-1020

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

30 July 2017

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 vivo telomere 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

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