(Q36814605)

English

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

scientific article published on 28 March 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Maria M Gramatges

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Xiaodong Qi

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Ghadir S Sasa

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Julian J-L Chen

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Alison A Bertuch

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

language of work or name

0 references

publication date

28 March 2013

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

121

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

18

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

3586-3593

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The common ancestral core of vertebrate and fungal telomerase RNAs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The telomere syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Mutations in the telomere capping complex in bone marrow failure and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

CTC1 Mutations in a patient with dyskeratosis congenita.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

It all comes together at the ends: telomerase structure, function, and biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

RNA/DNA hybrid binding affinity determines telomerase template-translocation efficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Telomere dysfunction and chromosome instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Telomere biology of the chicken: a model for aging research.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

A novel motif in telomerase reverse transcriptase regulates telomere repeat addition rate and processivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The telomerase-specific T motif is a restrictive determinant of repetitive reverse transcription by human telomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Identification of deleterious mutations within three human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Cancer in dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

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=3643759

29 September 2017

Mutation in TERT separates processivity from anchor-site function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The telomerase database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 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=3643759

29 September 2017

Dyskeratosis congenita: a genetic disorder of many faces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 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=3643759

29 September 2017

Adult-onset pulmonary fibrosis caused by mutations in telomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Telomerase mutations in families with idiopathic pulmonary fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 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=3643759

29 September 2017

A novel PCR strategy for high-efficiency, automated site-directed mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 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=3643759

29 September 2017

The C terminus of the human telomerase reverse transcriptase is a determinant of enzyme processivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 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=3643759

29 September 2017

Template definition by Tetrahymena telomerase reverse transcriptase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Reconstitution of human telomerase with the template RNA component hTR and the catalytic protein subunit hTRT

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Telomerase catalytic subunit homologs from fission yeast and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Reverse transcriptase motifs in the catalytic subunit of telomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Telomerase activity in germline and embryonic cells of Xenopus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

The RNA component of human telomerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

29 September 2017

Structure and function of the smallest vertebrate telomerase RNA from teleost fish.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

5 September 2018

Mutations in telomerase catalytic protein in Japanese children with aplastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3643759

5 September 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=3643759

5 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23538340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional characterization of natural telomerase mutations found in patients with hematologic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/23538340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2012-08-447755

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

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