4.1 Review

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

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Article Genetics & Heredity

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Amanda J. Walne et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Marjolijn C. J. Jongmans et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity

Jean-Baptiste Vannier et al.

Article Hematology

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

Blanche P. Alter et al.

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)

Article Cell Biology

RTEL1 contributes to DNA replication and repair and telomere maintenance

Evert-Jan Uringa et al.

MOLECULAR BIOLOGY OF THE CELL (2012)

Review Biotechnology & Applied Microbiology

Dyskeratosis congenita as a disorder of telomere maintenance

Nya D. Nelson et al.

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2012)

Editorial Material Genetics & Heredity

Connecting complex disorders through biology

Sharon A. Savage

NATURE GENETICS (2012)

Article Genetics & Heredity

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley H. Anderson et al.

NATURE GENETICS (2012)

Article Oncology

CTC1 Mutations in a patient with dyskeratosis congenita

Rachel B. Keller et al.

PEDIATRIC BLOOD & CANCER (2012)

Article Cell Biology

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Franklin Zhong et al.

GENES & DEVELOPMENT (2011)

Article Cell Biology

A role for heterochromatin protein 1γ at human telomeres

Silvia Canudas et al.

GENES & DEVELOPMENT (2011)

Review Hematology

Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura et al.

BLOOD REVIEWS (2010)

Review Genetics & Heredity

The genetics and clinical manifestations of telomere biology disorders

Sharon A. Savage et al.

GENETICS IN MEDICINE (2010)

Article Biochemistry & Molecular Biology

Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs

Christian Trahan et al.

HUMAN MOLECULAR GENETICS (2010)

Review Biochemistry & Molecular Biology

The Box H/ACA Ribonucleoprotein Complex: Interplay of RNA and Protein Structures in Post-transcriptional RNA Modification

Tomoko Hamma et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Multidisciplinary Sciences

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

Fabien Touzot et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Review Genetics & Heredity

Syndromes of Telomere Shortening

Mary Armanios

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)

Article Hematology

Cancer in dyskeratosis congenita

Blanche P. Alter et al.

Article Oncology

Dyskeratosis Congenital

Sharon A. Savage et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2009)

Article Multidisciplinary Sciences

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

Rodrigo T. Calado et al.

PLOS ONE (2009)

Article Pediatrics

Dyskeratosis congenita: The first NIH clinical research workshop

Sharon A. Savage et al.

PEDIATRIC BLOOD & CANCER (2009)

Article Biochemistry & Molecular Biology

SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

Petar N. Grozdanov et al.

Article Multidisciplinary Sciences

A Human Telomerase Holoenzyme Protein Required for Cajal Body Localization and Telomere Synthesis

Andrew S. Venteicher et al.

SCIENCE (2009)

Article Genetics & Heredity

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

Sharon A. Savage et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

All in the Family: Disclosure of Unwanted Information to an Adolescent to Benefit a Relative

Colleen C. Denny et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Biochemistry & Molecular Biology

Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly

Andrew S. Venteicher et al.

Article Dentistry, Oral Surgery & Medicine

Oral and dental phenotype of dyskeratosis congenita

J. C. Atkinson et al.

ORAL DISEASES (2008)

Article Multidisciplinary Sciences

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

Jonathan K. Alder et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Multidisciplinary Sciences

Adult-onset pulmonary fibrosis caused by mutations in telomerase

Kalliopi D. Tsakiri et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Medicine, General & Internal

Telomerase mutations in families with idiopathic pulmonary fibrosis

Mary Y. Armanios et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Hematology

Dyskeratosis congenita

Tom Vulliamy et al.

SEMINARS IN HEMATOLOGY (2006)

Article Hematology

Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita

MM Al-Rahawan et al.

INTERNATIONAL JOURNAL OF HEMATOLOGY (2006)

Article Multidisciplinary Sciences

The effect of TERC haploinsufficiency on the inheritance of telomere length

F Goldman et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Multidisciplinary Sciences

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

M Armanios et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Review Cell Biology

The telomere length dynamic and methods of its assessment

KW Lin et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2005)

Review Geriatrics & Gerontology

New developments in telomere length analysis

DM Baird

EXPERIMENTAL GERONTOLOGY (2005)

Article Medicine, General & Internal

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

H Yamaguchi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

Article Cell Biology

Does a sentinel or a subset of short telomeres determine replicative senescence?

Y Zou et al.

MOLECULAR BIOLOGY OF THE CELL (2004)

Article Multidisciplinary Sciences

Genetic regulation of telomere-telomere fusions in the yeast Saccharomyces cerevisae

PA Mieczkowski et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Biochemistry & Molecular Biology

NEJ1 prevents NHEJ-dependent telornere fusions in yeast without telornerase

G Liti et al.

MOLECULAR CELL (2003)