Telomere-driven diseases and telomere-targeting therapies

A genetic interaction between RAP1 and telomerase reveals an unanticipated role for RAP1 in telomere maintenance

(2016) Paula Martínez et al.   AGING CELL

Telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia

(2016) C. Bar et al.   BLOOD

Danazol Treatment for Telomere Diseases

(2016) Danielle M. Townsley et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Generation of mice with longer and better preserved telomeres in the absence of genetic manipulations

(2016) Elisa Varela et al.   Nature Communications

Role of Telomeres and Telomerase in Aging and Cancer

(2016) J. W. Shay   Cancer Discovery

Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis

(2016) Alexandra M. Pinzaru et al.   Cell Reports

Roles of telomeres and telomerase in cancer, and advances in telomerase-targeted therapies

(2016) Mohammad A. Jafri et al.   Genome Medicine

Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

(2015) Joy D. Cogan et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

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

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

Short Telomeres, Telomeropathy, and Subclinical Extrapulmonary Organ Damage in Patients With Interstitial Lung Disease

(2015) Gautam George 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

Therapeutic inhibition of TRF1 impairs the growth of p53-deficient K-RasG12V-induced lung cancer by induction of telomeric DNA damage

(2015) M. Garcia-Beccaria et al.   EMBO Molecular Medicine

Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation

(2015) Dong-Sheng Huang et al.   EUROPEAN JOURNAL OF CANCER

HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis

(2015) Caroline Kannengiesser et al.   EUROPEAN RESPIRATORY JOURNAL

Transient delivery of modified mRNA encoding TERT rapidly extends telomeres in human cells

(2015) John Ramunas et al.   FASEB JOURNAL

Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres

(2015) C. Bar et al.   HAEMATOLOGICA

Cell death during crisis is mediated by mitotic telomere deprotection

(2015) Makoto T. Hayashi et al.   NATURE

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

(2015) Bridget D Stuart et al.   NATURE GENETICS

Molecular mechanisms of activity and derepression of alternative lengthening of telomeres

(2015) Hilda A Pickett et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis

(2015) Ayalew Tefferi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Telomerase Inhibitor Imetelstat in Patients with Essential Thrombocythemia

(2015) Gabriela M. Baerlocher et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

(2015) Oriol Calvete et al.   Nature Communications

Molecular mechanisms of activity and derepression of alternative lengthening of telomeres

(2015) Hilda A Pickett et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mice with Pulmonary Fibrosis Driven by Telomere Dysfunction

(2015) Juan M. Povedano et al.   Cell Reports

Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres

(2015) C. Bar et al.   HAEMATOLOGICA

Over-Expression of Telomere Binding Factors (TRF1 & TRF2) in Renal Cell Carcinoma and Their Inhibition by Using SiRNA Induce Apoptosis, Reduce Cell Proliferation and Migration Invitro

(2015) Deeksha Pal et al.   PLoS One

The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells

(2014) J. Zhang et al.   BLOOD

Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances

(2014) Jérôme D. Robin et al.   GENES & DEVELOPMENT

Telomeropathies: An emerging spectrum disorder

(2014) Brody Holohan et al.   JOURNAL OF CELL BIOLOGY

Shading the TRF2 Recruiting Function: A New Horizon in Drug Development

(2014) Salvatore Di Maro et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

(2014) Lauren G. Aoude et al.   JNCI-Journal of the National Cancer Institute

TERT promoter mutations contribute to subset prognostication of lower-grade gliomas

(2014) Aden Ka-Yin Chan et al.   MODERN PATHOLOGY

POT1 loss-of-function variants predispose to familial melanoma

(2014) Carla Daniela Robles-Espinoza et al.   NATURE GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

Telomerase expression confers cardioprotection in the adult mouse heart after acute myocardial infarction

(2014) Christian Bär et al.   Nature Communications

Induction of Telomere Dysfunction Mediated by the Telomerase Substrate Precursor 6-Thio-2′-Deoxyguanosine

(2014) Ilgen Mender et al.   Cancer Discovery

TERT Promoter Mutations Occur Early in Urothelial Neoplasia and Are Biomarkers of Early Disease and Disease Recurrence in Urine

(2013) I. Kinde et al.   CANCER RESEARCH

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Super-Resolution Fluorescence Imaging of Telomeres Reveals TRF2-Dependent T-loop Formation

(2013) Ylli Doksani et al.   CELL

Telomere Length in Epidemiology: A Biomarker of Aging, Age-Related Disease, Both, or Neither?

(2013) J. L. Sanders et al.   EPIDEMIOLOGIC REVIEWS

Telomerase Reverse Transcriptase Promoter Mutations in Bladder Cancer: High Frequency Across Stages, Detection in Urine, and Lack of Association with Outcome

(2013) Yves Allory et al.   EUROPEAN UROLOGY

Comprehensive Mutation Analysis of the TERT Promoter in Bladder Cancer and Detection of Mutations in Voided Urine

(2013) Carolyn D. Hurst et al.   EUROPEAN UROLOGY

Cellular senescence and the senescent secretory phenotype: therapeutic opportunities

(2013) Tamara Tchkonia et al.   JOURNAL OF CLINICAL INVESTIGATION

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

The Telomere Deprotection Response Is Functionally Distinct from the Genomic DNA Damage Response

(2013) Anthony J. Cesare et al.   MOLECULAR CELL

TRF2 inhibits a cell-extrinsic pathway through which natural killer cells eliminate cancer cells

(2013) Annamaria Biroccio et al.   NATURE CELL BIOLOGY

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

(2013) Guido Stadler et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Natural Product Telomerase Activator as Part of a Health Maintenance Program: Metabolic and Cardiovascular Response

(2013) Calvin B. Harley et al.   REJUVENATION RESEARCH

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

(2013) Bari J Ballew et al.   Expert Review of Hematology

TRF1 is a stem cell marker and is essential for the generation of induced pluripotent stem cells

(2013) Ralph P. Schneider et al.   Nature Communications

Mutant Mice Lacking the p53 C-Terminal Domain Model Telomere Syndromes

(2013) Iva Simeonova et al.   Cell Reports

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

(2012) F. Beier et al.   BLOOD

Telomere-Driven Tetraploidization Occurs in Human Cells Undergoing Crisis and Promotes Transformation of Mouse Cells

(2012) Teresa Davoli et al.   CANCER CELL

A three-state model of telomere control over human proliferative boundaries

(2012) Anthony J Cesare et al.   CURRENT OPINION IN CELL BIOLOGY

Telomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancer

(2012) Bruno Bernardes de Jesus et al.   EMBO Molecular Medicine

Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

(2012) Paul J. Newey et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation

(2012) Marzia Fumagalli et al.   NATURE CELL BIOLOGY

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

A telomere-dependent DNA damage checkpoint induced by prolonged mitotic arrest

(2012) Makoto T Hayashi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cooperation between p53 and the telomere-protecting shelterin component Pot1a in endometrial carcinogenesis

(2012) E A Akbay et al.   ONCOGENE

The Rate of Increase of Short Telomeres Predicts Longevity in Mammals

(2012) Elsa Vera et al.   Cell Reports

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

Telomere Length Is a Determinant of Emphysema Susceptibility

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

Danazol as first-line therapy for aplastic anemia

(2011) José Carlos Jaime-Pérez et al.   ANNALS OF HEMATOLOGY

The Causes and Consequences of Polyploidy in Normal Development and Cancer

(2011) Teresa Davoli et al.   Annual Review of Cell and Developmental Biology

Five dysfunctional telomeres predict onset of senescence in human cells

(2011) Zeenia Kaul et al.   EMBO REPORTS

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

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

Is telomerase a viable target in cancer?

(2011) C.M. Buseman et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Mitotic catastrophe: a mechanism for avoiding genomic instability

(2011) Ilio Vitale et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Different telomere-length dynamics at the inner cell mass versus established embryonic stem (ES) cells

(2011) E. Varela et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent Patents on Anti-Telomerase Cancer Therapy

(2011) Apurva Agrawal et al.   Recent Patents on Anti-Cancer Drug Discovery

Role of shelterin in cancer and aging

(2010) Paula Martínez et al.   AGING CELL

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

(2010) T. T. Lin et al.   BLOOD

Elevated TRF2 in advanced breast cancers with short telomeres

(2010) Malissa C. Diehl et al.   BREAST CANCER RESEARCH AND TREATMENT

TPP1 Is Required for TERT Recruitment, Telomere Elongation during Nuclear Reprogramming, and Normal Skin Development in Mice

(2010) Agueda M. Tejera et al.   DEVELOPMENTAL CELL

Mammalian Rap1 controls telomere function and gene expression through binding to telomeric and extratelomeric sites

(2010) Paula Martinez et al.   NATURE CELL BIOLOGY

Analysis of Human and Mouse Reprogramming of Somatic Cells to Induced Pluripotent Stem Cells. What Is in the Plate?

(2010) Stéphanie Boué et al.   PLoS One

Loss of Rap1 Induces Telomere Recombination in the Absence of NHEJ or a DNA Damage Signal

(2010) A. Sfeir et al.   SCIENCE

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

(2009) R. T. Calado et al.   BLOOD

Genetic p53 Deficiency Partially Rescues the Adrenocortical Dysplasia Phenotype at the Expense of Increased Tumorigenesis

(2009) Tobias Else et al.   CANCER CELL

Telomeres and telomerase in cancer

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

Telomeres Acquire Embryonic Stem Cell Characteristics in Induced Pluripotent Stem Cells

(2009) Rosa M. Marion et al.   Cell Stem Cell

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

Spontaneous occurrence of telomeric DNA damage response in the absence of chromosome fusions

(2009) Anthony J Cesare et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

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

MSH2 deficiency abolishes the anticancer and pro-aging activity of short telomeres

(2008) Paula Martinez et al.   AGING CELL

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

How Shelterin Protects Mammalian Telomeres

(2008) Wilhelm Palm et al.   Annual Review of Genetics

Telomere dysfunction promotes genome instability and metastatic potential in a K-ras p53 mouse model of lung cancer

(2008) Samanthi A. Perera et al.   CARCINOGENESIS

Telomerase Reverse Transcriptase Delays Aging in Cancer-Resistant Mice

(2008) Antonia Tomás-Loba et al.   CELL

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Engineered telomere degradation models dyskeratosis congenita

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

The longest telomeres: a general signature of adult stem cell compartments

(2008) I. Flores et al.   GENES & DEVELOPMENT

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

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

(2008) J. K. Alder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA