Short telomere syndromes cause a primary T cell immunodeficiency

Diagnostic utility of telomere length testing in a hospital-based setting

(2018) Jonathan K. Alder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CD57 in human natural killer cells and T-lymphocytes

(2016) Hassen Kared et al.   CANCER IMMUNOLOGY IMMUNOTHERAPY

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

(2016) Susan E. Stanley et al.   Science Translational Medicine

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

(2015) Galina Glousker et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

(2015) Amany I. Gorgy et al.   CHEST

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

(2015) Jonathan K. Alder et al.   CHEST

The short and long telomere syndromes: paired paradigms for molecular medicine

(2015) Susan E Stanley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes

(2015) Susan E. Stanley et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Telomere dysfunction causes alveolar stem cell failure

(2015) Jonathan K. Alder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

(2014) L. L. Silhan et al.   EUROPEAN RESPIRATORY JOURNAL

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

(2014) H. B. Gaspar et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Telomerase mutations in smokers with severe emphysema

(2014) Susan E. Stanley et al.   JOURNAL OF CLINICAL INVESTIGATION

Diversity and clonal selection in the human T-cell repertoire

(2014) Q. Qi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1 ) Gene

(2013) Jonathan K. Alder et al.   HUMAN MUTATION

Identification of seven loci affecting mean telomere length and their association with disease

(2013) Veryan Codd et al.   NATURE GENETICS

Understanding immunosenescence to improve responses to vaccines

(2013) Jörg J Goronzy et al.   NATURE IMMUNOLOGY

Using synthetic templates to design an unbiased multiplex PCR assay

(2013) Christopher S. Carlson et al.   Nature Communications

The gastrointestinal manifestations of telomere-mediated disease

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

Prednisone, Azathioprine, andN-Acetylcysteine for Pulmonary Fibrosis

(2012)   NEW ENGLAND JOURNAL OF MEDICINE

Collapse of Telomere Homeostasis in Hematopoietic Cells Caused by Heterozygous Mutations in Telomerase Genes

(2012) Geraldine Aubert et al.   PLoS 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

Durable Complete Responses in Heavily Pretreated Patients with Metastatic Melanoma Using T-Cell Transfer Immunotherapy

(2011) S. A. Rosenberg et al.   CLINICAL CANCER RESEARCH

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

(2011) E. M. Parry et al.   JOURNAL OF MEDICAL GENETICS

Genetics of leukocyte telomere length and its role in atherosclerosis

(2011) Abraham Aviv   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

Short Telomeres Compromise β-Cell Signaling and Survival

(2011) Nini Guo et al.   PLoS One

The Blood of Healthy Individuals Exhibits CD8 T Cells with a Highly Altered TCR Vb Repertoire but with an Unmodified Phenotype

(2011) Nicolas Degauque et al.   PLoS One

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita

(2010) A C Dietz et al.   BONE MARROW TRANSPLANTATION

Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging

(2009) Mary Armanios et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reductive isolation from bone marrow and blood implicates common lymphoid progenitors as the major source of thymopoiesis

(2008) T. Serwold et al.   BLOOD