A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

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

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

TPP1 OB-Fold Domain Controls Telomere Maintenance by Recruiting Telomerase to Chromosome Ends

(2012) Franklin L. Zhong et al.   CELL

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

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

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

(2012) Jayakrishnan Nandakumar et al.   NATURE

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

The common ancestral core of vertebrate and fungal telomerase RNAs

(2012) Xiaodong Qi et al.   NUCLEIC ACIDS RESEARCH

CTC1 Mutations in a patient with dyskeratosis congenita

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

RNA/DNA hybrid binding affinity determines telomerase template-translocation efficiency

(2011) Xiaodong Qi et al.   EMBO JOURNAL

It all comes together at the ends: Telomerase structure, function, and biogenesis

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

Telomere dysfunction and chromosome instability

(2011) John P. Murnane   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

(2011) Jonathan K. Alder et al.   PLoS Genetics

Telomere biology of the chicken: A model for aging research

(2010) Susan E. Swanberg et al.   EXPERIMENTAL GERONTOLOGY

A novel motif in telomerase reverse transcriptase regulates telomere repeat addition rate and processivity

(2010) Mingyi Xie et al.   NUCLEIC ACIDS RESEARCH

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

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Investigation of Human Telomerase Holoenzyme Assembly, Activity, and Processivity Using Disease-linked Subunit Variants

(2009) Aaron R. Robart et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Telomerase-Specific T Motif Is a Restrictive Determinant of Repetitive Reverse Transcription by Human Telomerase

(2009) W. C. Drosopoulos et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Mutation in TERT separates processivity from anchor-site function

(2008) Arthur J Zaug et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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