A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE

Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita

(2020) Martin Kirschner et al.   BRITISH JOURNAL OF HAEMATOLOGY

CD8 + T‐cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations

(2020) Ting Zeng et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Noc4L-Mediated Ribosome Biogenesis Controls Activation of Regulatory and Conventional T Cells

(2019) Xueping Zhu et al.   Cell Reports

Murine regulatory T cells induce death of effector T, B, and NK lymphocytes through a contact-independent mechanism involving telomerase suppression and telomere-associated senescence

(2018) Dmitry D. Zhdanov et al.   CELLULAR IMMUNOLOGY

Pathogenic TERT promoter variants in telomere diseases

(2018) Fernanda Gutierrez-Rodrigues et al.   GENETICS IN MEDICINE

Age-related remodelling of oesophageal epithelia by mutated cancer drivers

(2018) Akira Yokoyama et al.   NATURE

Telomere length measurement by qPCR – Summary of critical factors and recommendations for assay design

(2018) Jue Lin et al.   PSYCHONEUROENDOCRINOLOGY

Bone mineral density in patients with inherited bone marrow failure syndromes

(2017) Roopa Kanakatti Shankar et al.   PEDIATRIC RESEARCH

The wide-ranging clinical implications of the short telomere syndromes

(2016) P. M. Barbaro et al.   INTERNAL MEDICINE JOURNAL

Association between Telomere Length and Type 2 Diabetes Mellitus: A Meta-Analysis

(2013) Jinzhao Zhao et al.   PLoS One

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

(2010) Alberto Diaz de Leon et al.   PLoS One

Dyskeratosis congenita, stem cells and telomeres

(2009) Michael Kirwan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Advances in the understanding of dyskeratosis congenita

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