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

A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix

(2011) Patrick G. Kaminker et al.   CELL CYCLE

A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex

(2010) Nazan Sarper et al.   PEDIATRIC BLOOD & CANCER

Advances in the understanding of dyskeratosis congenita

(2009) Amanda J. Walne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC

(2009) Francoise A. Gourronc et al.   EXPERIMENTAL DERMATOLOGY

Dyskeratosis Congenita

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

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

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

Ataxia and pancytopenia caused by a mutation in TINF2

(2008) Elena Tsangaris et al.   HUMAN GENETICS

TINF2mutations in children with severe aplastic anemia

(2008) Hong-Yan Du et al.   PEDIATRIC BLOOD & CANCER

A Shared Docking Motif in TRF1 and TRF2 Used for Differential Recruitment of Telomeric Proteins

(2008) Y. Chen et al.   SCIENCE