Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita

The telomerase activator TA-65 elongates short telomeres and increases health span of adult/old mice without increasing cancer incidence

(2011) Bruno Bernardes de Jesus et al.   AGING CELL

Essential roles for Pot1b in HSC self-renewal and survival

(2011) Y. Wang et al.   BLOOD

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood

(2011) GS Sasa et al.   CLINICAL GENETICS

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

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

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita

(2011) S. A. Savage et al.   JOURNAL OF MEDICAL GENETICS

Telomere Protection by TPP1/POT1 Requires Tethering to TIN2

(2011) Kaori K. Takai et al.   MOLECULAR CELL

Hematopoietic Stem Cell Quiescence Promotes Error-Prone DNA Repair and Mutagenesis

(2010) Mary Mohrin et al.   Cell Stem Cell

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

(2010) T Vulliamy et al.   CLINICAL GENETICS

Inherited bone marrow failure syndromes

(2010) I. Dokal et al.   HAEMATOLOGICA

The bone marrow: a site of neutrophil clearance

(2010) S. M. Rankin   JOURNAL OF LEUKOCYTE BIOLOGY

Mammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication

(2009) Agnel Sfeir et al.   CELL

Telomere length regulation: coupling DNA end processing to feedback regulation of telomerase

(2009) David Shore et al.   EMBO JOURNAL

Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice

(2009) P. Martinez et al.   GENES & DEVELOPMENT

Telomere Diseases

(2009) Rodrigo T. Calado et al.   NEW ENGLAND JOURNAL OF MEDICINE

Telomere maintenance and human bone marrow failure

(2008) R. T. Calado et al.   BLOOD

Engineered telomere degradation models dyskeratosis congenita

(2008) D. Hockemeyer et al.   GENES & DEVELOPMENT

Telomere dysfunction and cell survival: roles for distinct TIN2-containing complexes

(2008) Sahn-ho Kim et al.   JOURNAL OF CELL BIOLOGY

Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita

(2008) H. He et al.   MOLECULAR AND CELLULAR BIOLOGY

The role of telomere biology in bone marrow failure and other disorders

(2007) Sharon A. Savage et al.   MECHANISMS OF AGEING AND DEVELOPMENT