(Q34339671)

1 August 2017

title

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

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Hoyeraal-Hreidarsson syndrome

1 August 2017

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9

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12

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Jean-Pierre de Villartay

16

Jean-Pierre de Villartay

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Patrick Nitschké

8

Patrick Nitschke

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Nada Jabado

14

Nada Jabado

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Laurent Jullien

Laurent Jullien

2

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Fabien Touzot

Fabien Touzot

3

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Patrick Revy

Patrick Revy

17

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Laetitia Gaillard

5

Laetitia Gaillard

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1 August 2017

13

Isabelle Callebaut

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1 August 2017

Tangui Le Guen

1

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1 August 2017

Michael Schertzer

4

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1 August 2017

Mylène Perderiset

6

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1 August 2017

Wassila Carpentier

7

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1 August 2017

Patrick Nitschke

8

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1 August 2017

Gérard Couillault

10

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1 August 2017

Jean Soulier

11

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1 August 2017

Arturo Londono-Vallejo

15

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1 August 2017

publication date

15 April 2013

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1 August 2017

published in

Human Molecular Genetics

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1 August 2017

volume

22

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1 August 2017

issue

16

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1 August 2017

page(s)

3239-3249

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How telomeres solve the end-protection problem

1 August 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Mammalian telomeres end in a large duplex loop

21 January 2018

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How telomeres are replicated

21 January 2018

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Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Dyskeratosis congenita, stem cells and telomeres

21 January 2018

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Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers

21 January 2018

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

21 January 2018

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A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

21 January 2018

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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

21 January 2018

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CTC1 Mutations in a patient with dyskeratosis congenita.

21 January 2018

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

21 January 2018

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Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein

21 January 2018

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21 January 2018

The telomere syndromes

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Advances in quantification and characterization of telomerase activity by the telomeric repeat amplification protocol (TRAP).

21 January 2018

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Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

DNA damage foci at dysfunctional telomeres

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Structure and mechanism of helicases and nucleic acid translocases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations

21 January 2018

1 reference

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Crystal Structure of the FeS Cluster–Containing Nucleotide Excision Repair Helicase XPD

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

RTEL1 contributes to DNA replication and repair and telomere maintenance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity

21 January 2018

1 reference

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[Dyskeratosis congenita: short telomeres are not the rule].

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Syndromes of telomere shortening

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Dyskeratosis congenita and the DNA damage response

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

RTEL-1 enforces meiotic crossover interference and homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

RTEL1 maintains genomic stability by suppressing homologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

Studying telomere replication by Q-CO-FISH: the effect of telomestatin, a potent G-quadruplex ligand.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT178

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT178

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1 August 2017

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