Telomeropathies: An emerging spectrum disorder

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

Early Hits and Long-Term Consequences: Tracking the Lasting Impact of Prenatal Smoke Exposure on Telomere Length in Children

(2013) Katherine P. Theall et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

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

(2013) Ylli Doksani et al.   CELL

HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment

(2013) Dennis Kappei et al.   EMBO JOURNAL

Telomere length in circulating leukocytes is associated with lung function and disease

(2013) E. Albrecht et al.   EUROPEAN RESPIRATORY JOURNAL

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

(2013) Tangui Le Guen et al.   HUMAN MOLECULAR GENETICS

IOP1 Protein Is an External Component of the Human Cytosolic Iron-Sulfur Cluster Assembly (CIA) Machinery and Functions in the MMS19 Protein-dependent CIA Pathway

(2013) Mineaki Seki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Telomeres and age-related disease: how telomere biology informs clinical paradigms

(2013) Mary Armanios   JOURNAL OF CLINICAL INVESTIGATION

Irreversible Leukoencephalopathy After Reduced-intensity Stem Cell Transplantation in a Dyskeratosis Congenita Patient With TINF2 Mutation

(2013) Takeshi Isoda et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

(2013) Stig E Bojesen et al.   NATURE GENETICS

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

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

TRF1 and TRF2 use different mechanisms to find telomeric DNA but share a novel mechanism to search for protein partners at telomeres

(2013) Jiangguo Lin et al.   NUCLEIC ACIDS RESEARCH

Environmental and occupational exposure to chemicals and telomere length in human studies

(2013) Xiao Zhang et al.   OCCUPATIONAL AND ENVIRONMENTAL MEDICINE

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy

(2013) Maria M. Gramatges et al.   Translational Research

Telomeres shorten at equivalent rates in somatic tissues of adults

(2013) Lily Daniali et al.   Nature Communications

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

(2013) Bari J. Ballew et al.   PLoS Genetics

Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts

(2013) Shiran Yehezkel et al.   Frontiers in Oncology

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

(2012) Marjolijn C.J. Jongmans et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

(2012) Anne Polvi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

RTEL1 Dismantles T Loops and Counteracts Telomeric G4-DNA to Maintain Telomere Integrity

(2012) Jean-Baptiste Vannier et al.   CELL

Telomeric 3′ Overhangs Derive from Resection by Exo1 and Apollo and Fill-In by POT1b-Associated CST

(2012) Peng Wu et al.   CELL

Human CST promotes telomere duplex replication and general replication restart after fork stalling

(2012) Jason A Stewart et al.   EMBO JOURNAL

CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion

(2012) Peili Gu et al.   EMBO JOURNAL

Mutations in the telomere capping complex in bone marrow failure and related syndromes

(2012) A. J. Walne et al.   HAEMATOLOGICA

Synchronous cryptogenic liver cirrhosis and idiopathic pulmonary fibrosis: A clue to telomere involvement

(2012) Lucia Carulli et al.   HEPATOLOGY

Coilin Displays Differential Affinity for Specific RNAs In Vivo and Is Linked to Telomerase RNA Biogenesis

(2012) Hanna J. Broome et al.   JOURNAL OF MOLECULAR BIOLOGY

Telomerase Recruitment Requires both TCAB1 and Cajal Bodies Independently

(2012) J. L. Stern et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2012) Beverley H Anderson et al.   NATURE GENETICS

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

Oxidative stress-induced telomeric erosion as a mechanism underlying airborne particulate matter-related cardiovascular disease

(2012) Thomas J Grahame et al.   Particle and Fibre Toxicology

CTC1 Mutations in a patient with dyskeratosis congenita

(2012) Rachel B. Keller et al.   PEDIATRIC BLOOD & CANCER

A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency

(2012) Samuel Goldfarb et al.   PEDIATRIC PULMONOLOGY

Delayed paternal age of reproduction in humans is associated with longer telomeres across two generations of descendants

(2012) D. T. A. Eisenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Removal of Shelterin Reveals the Telomere End-Protection Problem

(2012) A. Sfeir et al.   SCIENCE

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

(2012) Vadim Shchepachev et al.   Cell Reports

Human CST Has Independent Functions during Telomere Duplex Replication and C-Strand Fill-In

(2012) Feng Wang et al.   Cell Reports

Adult lung stem cells and their contribution to lung tumourigenesis

(2012) M.-L. Asselin-Labat et al.   Open Biology

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

The replication rate of human hematopoietic stem cells in vivo

(2011) S. N. Catlin et al.   BLOOD

Bevacizumab for Coats' disease with exudative retinal detachment and risk of vitreoretinal traction

(2011) Aparna Ramasubramanian et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

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

(2011) GS Sasa et al.   CLINICAL GENETICS

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

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

Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks

(2011) Jennifer M. Mason et al.   HUMAN MOLECULAR GENETICS

RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance

(2011) Avik K. Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Telomerase and idiopathic pulmonary fibrosis

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

Genetics of leukocyte telomere length and its role in atherosclerosis

(2011) Abraham Aviv   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Dyskeratosis Congenita

(2011) I. Dokal   Hematology-American Society of Hematology Education Program

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

(2010) Blanche P. Alter et al.   BRITISH JOURNAL OF HAEMATOLOGY

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

(2010) T Vulliamy et al.   CLINICAL GENETICS

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

Lymphoid and myeloid lineage commitment in multipotent hematopoietic progenitors

(2010) Motonari Kondo   IMMUNOLOGICAL REVIEWS

Specificity and Stoichiometry of Subunit Interactions in the Human Telomerase Holoenzyme Assembled In Vivo

(2010) Emily D. Egan et al.   MOLECULAR AND CELLULAR BIOLOGY

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

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

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

(2010) F. Touzot 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

Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology

(2010) D. Levy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Telomere Length, Current Perceived Stress, and Urinary Stress Hormones in Women

(2009) C. G. Parks et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Leukocyte telomere dynamics and human hematopoietic stem cell kinetics during somatic growth

(2009) Igor Sidorov et al.   EXPERIMENTAL HEMATOLOGY

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

(2009) Michael Kirwan et al.   HUMAN MUTATION

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

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

Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome

(2009) Noa Lamm et al.   PLoS One

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

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

(2008) Jennifer T. Cronkhite et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

How Shelterin Protects Mammalian Telomeres

(2008) Wilhelm Palm et al.   Annual Review of 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

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

Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP

(2008) C. Trahan et al.   RNA

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

(2008) Y. Chen et al.   SCIENCE