Dyskeratosis congenita

Partners in crime: bidirectional transcription in unstable microsatellite disease

(2010) R. Batra et al.   HUMAN MOLECULAR GENETICS

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

(2010) Carolyn J. McNees et al.   JOURNAL OF CELL BIOLOGY

Telomeres: protecting chromosomes against genome instability

(2010) Roderick J. O'Sullivan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

ATR contributes to telomere maintenance in human cells

(2010) Gaëlle Pennarun et al.   NUCLEIC ACIDS RESEARCH

Short Telomeres Resulting from Heritable Mutations in the Telomerase Reverse Transcriptase Gene Predispose for a Variety of Malignancies

(2009) Mark Hills et al.   Annals of the New York Academy of Sciences

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

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

(2009) Michael Kirwan et al.   HUMAN MUTATION

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

(2009) Bo Liang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

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

How Telomeres Solve the End-Protection Problem

(2009) T. de Lange   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

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

(2008) H.-Y. Du et al.   BLOOD

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

TERT Promotes Epithelial Proliferation through Transcriptional Control of a Myc- and Wnt-Related Developmental Program

(2008) Jinkuk Choi et al.   PLoS Genetics

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

(2008) B.-W. Gu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) T. Vulliamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2007) T.J. Vulliamy et al.   BIOCHIMIE