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

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Bari J. Ballew et al.   HUMAN GENETICS

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

(2012) Marjolijn C.J. Jongmans et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

(2012) Anne Polvi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human telomere disease due to disruption of the CCAAT box of the TERC promoter

(2012) A. M. Aalbers et al.   BLOOD

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

(2012) Jean-Baptiste Vannier et al.   CELL

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

(2012) A. J. Walne et al.   HAEMATOLOGICA

RTEL1 contributes to DNA replication and repair and telomere maintenance

(2012) Evert-Jan Uringa et al.   MOLECULAR BIOLOGY OF THE CELL

Connecting complex disorders through biology

(2012) Sharon A Savage   NATURE GENETICS

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

(2012) Beverley H Anderson et al.   NATURE GENETICS

CTC1 Mutations in a patient with dyskeratosis congenita

(2012) Rachel B. Keller et al.   PEDIATRIC BLOOD & CANCER

Neuropsychiatric Conditions Among Patients with Dyskeratosis Congenita: A Link with Telomere Biology?

(2012) Sandra Rackley et al.   PSYCHOSOMATICS

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

(2011) F. Zhong et al.   GENES & DEVELOPMENT

A role for heterochromatin protein 1  at human telomeres

(2011) S. Canudas et al.   GENES & DEVELOPMENT

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

(2011) B. P. Alter et al.   HAEMATOLOGICA

Dyskeratosis congenita as a disorder of telomere maintenance

(2011) Nya D. Nelson et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

(2011) Tom J. Vulliamy et al.   PLoS One

Reduced-Intensity Conditioning Using Fludarabine and Antithymocyte Globulin Alone Allows Stable Engraftment in a Patient with Dyskeratosis Congenita

(2010) L.G. Vuong et al.   ACTA HAEMATOLOGICA

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

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

(2010) A C Dietz et al.   BONE MARROW TRANSPLANTATION

The genetics and clinical manifestations of telomere biology disorders

(2010) Sharon A. Savage et al.   GENETICS IN MEDICINE

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

(2010) Amanda J. Walne et al.   HUMAN MOLECULAR GENETICS

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

(2010) F. Touzot et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Syndromes of Telomere Shortening

(2009) Mary Armanios   Annual Review of Genomics and Human Genetics

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Dyskeratosis Congenita

(2009) Sharon A. Savage et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

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

(2009) C. Trahan et al.   HUMAN MOLECULAR GENETICS

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

(2009) Tomoko Hamma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

(2009) Ekaterini T. Tsilou et al.   OPHTHALMOLOGY

Dyskeratosis congenita: The first NIH clinical research workshop

(2009) Sharon A. Savage et al.   PEDIATRIC BLOOD & CANCER

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

(2009) Rodrigo T. Calado et al.   PLoS One

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

(2009) P. N. Grozdanov et al.   RNA

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

(2009) A. S. Venteicher et al.   SCIENCE

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

(2008) Sharon A. Savage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative

(2008) Colleen C. Denny et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) A. J. Walne et al.   BLOOD

Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

(2008) Andrew S. Venteicher et al.   CELL

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

(2008) J. K. Alder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oral and dental phenotype of dyskeratosis congenita

(2007) JC Atkinson et al.   ORAL DISEASES