The short and long telomere syndromes: paired paradigms for molecular medicine (Q26800388)

Current Opinion in Genetics & Development

Europe PubMed Central

title

The short and long telomere syndromes: paired paradigms for molecular medicine (English)

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2

Mary Armanios

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author name string

Susan E Stanley

series ordinal

1

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language of work or name

English

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publication date

August 2015

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published in

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volume

33

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page(s)

1-9

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cites work

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

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

7 April 2017

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The POT1-TPP1 telomere complex is a telomerase processivity factor

7 April 2017

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

7 April 2017

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POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

7 April 2017

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A telomerase component is defective in the human disease dyskeratosis congenita

7 April 2017

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

7 April 2017

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7 April 2017

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Specific association of human telomerase activity with immortal cells and cancer

7 April 2017

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

7 April 2017

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A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia

7 April 2017

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

7 April 2017

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Telomere dysfunction and evolution of intestinal carcinoma in mice and humans

7 April 2017

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Identification of a specific telomere terminal transferase activity in Tetrahymena extracts

7 April 2017

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A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena

7 April 2017

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Telomeres shorten during ageing of human fibroblasts

7 April 2017

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Highly recurrent TERT promoter mutations in human melanoma

7 April 2017

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TERT promoter mutations in familial and sporadic melanoma

7 April 2017

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Telomerase mutations in families with idiopathic pulmonary fibrosis

7 April 2017

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Regulation of telomerase by telomeric proteins

7 April 2017

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A DNA damage checkpoint response in telomere-initiated senescence

7 April 2017

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Essential role of mouse telomerase in highly proliferative organs

7 April 2017

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Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

7 April 2017

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A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis

7 April 2017

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Telomere length predicts replicative capacity of human fibroblasts

7 April 2017

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Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer.

7 April 2017

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Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

28 September 2017

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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

28 September 2017

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Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

28 September 2017

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Telomere dysfunction causes alveolar stem cell failure

28 September 2017

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Rare variants in RTEL1 are associated with familial interstitial pneumonia

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomerase mutations in smokers with severe emphysema.

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

28 September 2017

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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

The effect on melanoma risk of genes previously associated with telomere length

28 September 2017

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Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

28 September 2017

1 reference

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Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

TERT promoter mutations in cancer development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomeres and age-related disease: how telomere biology informs clinical paradigms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

The gastrointestinal manifestations of telomere-mediated disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Shorter telomeres associate with a reduced risk of melanoma development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomere length is a determinant of emphysema susceptibility.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Genetics of leukocyte telomere length and its role in atherosclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Short telomeres compromise β-cell signaling and survival

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Short telomeres are sufficient to cause the degenerative defects associated with aging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Syndromes of telomere shortening

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Cancer in dyskeratosis congenita

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Short telomeres limit tumor progression in vivo by inducing senescence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomerase RNA levels limit the telomere length equilibrium

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Incidence and prevalence of idiopathic pulmonary fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Inherited aplastic anaemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Cellular responses to telomere shortening: cellular senescence as a tumor suppressor mechanism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Dyskeratosis congenita in all its forms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Short dysfunctional telomeres impair tumorigenesis in the INK4a(delta2/3) cancer-prone mouse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomere length and risk of melanoma, squamous cell carcinoma, and basal cell carcinoma.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Long telomere length and a TERT-CLPTM1 locus polymorphism association with melanoma risk.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomere dysfunction and the initiation of genome instability.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Telomerase activity in hematopoietic cells is associated with self-renewal potential

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741306

Longevity, Stress Response, and Cancer in Aging Telomerase-Deficient Mice

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

1 reference

12 December 2020

Telomere dysfunction promotes genome instability and metastatic potential in a K-ras p53 mouse model of lung cancer

1 reference

12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

1 reference

12 December 2020