Bone marrow failure and the telomeropathies

Response to androgen therapy in patients with dyskeratosis congenita

(2014) Payal P. Khincha et al.   BRITISH JOURNAL OF HAEMATOLOGY

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

(2013) Amanda J. Walne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Outcomes of Allogeneic Hematopoietic Cell Transplantation in Patients with Dyskeratosis Congenita

(2013) Shahinaz M. Gadalla et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure

(2013) M Ayas et al.   BONE MARROW TRANSPLANTATION

Haematological recovery in dyskeratosis congenita patients treated with danazol

(2013) Amin Islam et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

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

Extensive Telomere Erosion in the Initiation of Colorectal Adenomas and Its Association With Chromosomal Instability

(2013) Laureline Roger et al.   JNCI-Journal of the National Cancer Institute

Many disease-associated variants of hTERT retain high telomerase enzymatic activity

(2013) Arthur J. Zaug et al.   NUCLEIC ACIDS RESEARCH

Telomere Dynamics in Mice and Humans

(2013) Rodrigo T. Calado et al.   SEMINARS IN HEMATOLOGY

The gastrointestinal manifestations of telomere-mediated disease

(2012) Naudia L. Jonassaint et al.   AGING CELL

Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation

(2012) Patrick Ziegler et al.   ANNALS OF HEMATOLOGY

Human telomere disease due to disruption of the CCAAT box of the TERC promoter

(2012) A. M. Aalbers et al.   BLOOD

The effect of chemotherapy on telomere dynamics: clinical results and possible mechanisms

(2012) Talia Diker-Cohen et al.   LEUKEMIA & LYMPHOMA

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

(2012) Beverley H Anderson et al.   NATURE GENETICS

Telomere Length Is a Determinant of Emphysema Susceptibility

(2011) Jonathan K. Alder et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

(2011) E. M. Parry et al.   BLOOD

Subclinical Lung Disease, Macrocytosis, and Premature Graying in Kindreds With Telomerase ( TERT ) Mutations

(2011) Alberto Diaz de Leon et al.   CHEST

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

(2011) F. Zhong et al.   GENES & DEVELOPMENT

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

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

Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia

(2011) R T Calado et al.   LEUKEMIA

Telomere length in myelodysplastic syndromes

(2011) Dana E Rollison et al.   LEUKEMIA & LYMPHOMA

Telomerase and idiopathic pulmonary fibrosis

(2011) Mary Armanios   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Telomere length measurement—Caveats and a critical assessment of the available technologies and tools

(2011) Geraldine Aubert et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience

(2011) S. Jyonouchi et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Cumulative Inflammatory Load Is Associated with Short Leukocyte Telomere Length in the Health, Aging and Body Composition Study

(2011) Aoife O'Donovan et al.   PLoS One

Shortened Telomere Length Is Associated with Increased Risk of Cancer: A Meta-Analysis

(2011) Hongxia Ma et al.   PLoS One

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

(2011) Tom J. Vulliamy et al.   PLoS One

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 dysfunction and fusion during the progression of chronic lymphocytic leukemia: evidence for a telomere crisis

(2010) T. T. Lin et al.   BLOOD

Variation at the TERT locus and predisposition for cancer

(2010) Duncan M. Baird   EXPERT REVIEWS IN MOLECULAR MEDICINE

Telomere Length and Risk of Incident Cancer and Cancer Mortality

(2010) Peter Willeit et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Association of Telomere Length of Peripheral Blood Leukocytes With Hematopoietic Relapse, Malignant Transformation, and Survival in Severe Aplastic Anemia

(2010) Phillip Scheinberg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Alternative lengthening of telomeres: models, mechanisms and implications

(2010) Anthony J. Cesare et al.   NATURE REVIEWS GENETICS

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

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

The latent human herpesvirus-6A genome specifically integrates in telomeres of human chromosomes in vivo and in vitro

(2010) J. H. Arbuckle et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Telomere length is inherited with resetting of the telomere set-point

(2010) Y. J. Chiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evaluation of Candidate Stromal Epithelial Cross-Talk Genes Identifies Association between Risk of Serous Ovarian Cancer and TERT, a Cancer Susceptibility “Hot-Spot”

(2010) Sharon E. Johnatty et al.   PLoS Genetics

Race/ethnicity and telomere length in the Multi-Ethnic Study of Atherosclerosis

(2009) Ana V. Diez Roux et al.   AGING CELL

Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells

(2009) R. T. Calado et al.   BLOOD

Telomeres and telomerase in cancer

(2009) S. E. Artandi et al.   CARCINOGENESIS

Dyskeratosis Congenita

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

Accelerated Telomere Shortening Precedes Development of Therapy-Related Myelodysplasia or Acute Myelogenous Leukemia After Autologous Transplantation for Lymphoma

(2009) Sujata Chakraborty et al.   JOURNAL OF CLINICAL ONCOLOGY

Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements

(2009) Boitelo T. Letsolo et al.   NUCLEIC ACIDS RESEARCH

Analysis of telomeres in peripheral blood cells from patients with bone marrow failure

(2009) Elisa Pavesi et al.   PEDIATRIC BLOOD & CANCER

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

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

Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia

(2009) R. T. Calado et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF 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

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

Telomere length and telomerase subunits as diagnostic and prognostic biomarkers in Barrett carcinoma

(2008) Ralf Gertler et al.   CANCER

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

Telomere length assessment: Biomarker of chronic oxidative stress?

(2007) Joyce M.J. Houben et al.   FREE RADICAL BIOLOGY AND MEDICINE