(Q84282108)

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3 February 2020

title

Dyskeratosis congenita (English)

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3 February 2020

2

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3 February 2020

author name string

Monica Bessler

series ordinal

1

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3 February 2020

Philip J Mason

series ordinal

3

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3 February 2020

publication date

21 May 2010

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3 February 2020

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3 February 2020

volume

584

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3 February 2020

page(s)

3831-3838

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3 February 2020

issue

17

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

3 February 2020

cites work

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12 December 2020

TERT promotes epithelial proliferation through transcriptional control of a Myc- and Wnt-related developmental program

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

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12 December 2020

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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12 December 2020

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

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12 December 2020

Cancer in dyskeratosis congenita

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12 December 2020

Structure of a functional ribonucleoprotein pseudouridine synthase bound to a substrate RNA

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12 December 2020

Syndromes of telomere shortening

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12 December 2020

Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.

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12 December 2020

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

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12 December 2020

A spectrum of severe familial liver disorders associate with telomerase mutations

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12 December 2020

How telomeres solve the end-protection problem

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12 December 2020

Telomeres: protecting chromosomes against genome instability

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12 December 2020

ATR suppresses telomere fragility and recombination but is dispensable for elongation of short telomeres by telomerase

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12 December 2020

ATR contributes to telomere maintenance in human cells

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12 December 2020

Partners in crime: bidirectional transcription in unstable microsatellite disease

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12 December 2020

Genetic determination of telomere size in humans: a twin study of three age groups.

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12 December 2020

A telomerase component is defective in the human disease dyskeratosis congenita

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12 December 2020

Simple tandem DNA repeats and human genetic disease

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12 December 2020

Positional cloning of the Werner's syndrome gene

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12 December 2020

Telomerase activity in human germline and embryonic tissues and cells.

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12 December 2020

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA

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12 December 2020

Extension of life-span by introduction of telomerase into normal human cells

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12 December 2020

Essential role of mouse telomerase in highly proliferative organs

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12 December 2020

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

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12 December 2020

A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

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12 December 2020

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

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12 December 2020

Telomere fluorescence measurements in granulocytes and T lymphocyte subsets point to a high turnover of hematopoietic stem cells and memory T cells in early childhood.

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12 December 2020

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

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12 December 2020

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance

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12 December 2020

Telomerase therapeutics for degenerative diseases

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12 December 2020

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita

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12 December 2020

Shelterin: the protein complex that shapes and safeguards human telomeres

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12 December 2020

Dyskeratosis congenita in all its forms

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12 December 2020

Telomerase and cancer

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12 December 2020

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

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12 December 2020

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

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12 December 2020

Association between aplastic anaemia and mutations in telomerase RNA

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12 December 2020

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

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12 December 2020

Dyskeratosis congenita associated with three malignancies

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12 December 2020

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

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12 December 2020

Regulation of telomerase by telomeric proteins

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12 December 2020

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

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12 December 2020

A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes

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12 December 2020

The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats

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12 December 2020

Structure and variability of human chromosome ends

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12 December 2020

Telomeres shorten during ageing of human fibroblasts

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12 December 2020

Telomere reduction in human colorectal carcinoma and with ageing

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12 December 2020

Structure and function of telomeres

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12 December 2020

Telomere length predicts replicative capacity of human fibroblasts

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12 December 2020

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

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12 December 2020

The effect of TERC haploinsufficiency on the inheritance of telomere length

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12 December 2020

Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

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12 December 2020

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

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12 December 2020

Keeping p53 in check: essential and synergistic functions of Mdm2 and Mdm4.

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12 December 2020

Crystal structure of an H/ACA box ribonucleoprotein particle.

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12 December 2020

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12 December 2020

Telomerase mutations in families with idiopathic pulmonary fibrosis

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12 December 2020

Protein composition of catalytically active human telomerase from immortal cells

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12 December 2020

Adult-onset pulmonary fibrosis caused by mutations in telomerase

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

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12 December 2020

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome

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12 December 2020

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

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12 December 2020

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex

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12 December 2020

Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation

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12 December 2020

10.1016/J.FEBSLET.2010.05.019

Identifiers

DOI

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3 February 2020

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3 February 2020

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