The molecular genetics of the telomere biology disorders

What the Genetics “RTEL”ing Us about Telomeres and Pulmonary Fibrosis

(2015) Susan E. Stanley et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

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

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

(2015) Jonathan K. Alder et al.   CHEST

HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis

(2015) Caroline Kannengiesser et al.   EUROPEAN RESPIRATORY JOURNAL

Human telomerase: biogenesis, trafficking, recruitment, and activation

(2015) Jens C. Schmidt et al.   GENES & DEVELOPMENT

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

(2015) Hemanth Tummala et al.   JOURNAL OF CLINICAL INVESTIGATION

TRF2 Recruits RTEL1 to Telomeres in S Phase to Promote T-Loop Unwinding

(2015) Grzegorz Sarek et al.   MOLECULAR CELL

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

(2015) Bridget D Stuart et al.   NATURE GENETICS

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

Mice with Pulmonary Fibrosis Driven by Telomere Dysfunction

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

On the road with WRAP53β: guardian of Cajal bodies and genome integrity

(2015) Sofia Henriksson et al.   Frontiers in Genetics

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders

(2014) A. Balakumaran et al.   BLOOD

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

(2014) Y. Guo et al.   BLOOD

Proteostatic Control of Telomerase Function through TRiC-Mediated Folding of TCAB1

(2014) Adam Freund et al.   CELL

Human CST abundance determines recovery from diverse forms of DNA damage and replication stress

(2014) Feng Wang et al.   CELL CYCLE

A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia

(2014) Jonathan A. Kropski et al.   CHEST

Carrier screening ofRTEL1mutations in the Ashkenazi Jewish population

(2014) A.M. Fedick et al.   CLINICAL GENETICS

Metabolism of DNA secondary structures at the eukaryotic replication fork

(2014) Ana María León-Ortiz et al.   DNA REPAIR

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

(2014) C. Kannengiesser et al.   EUROPEAN RESPIRATORY JOURNAL

TRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling

(2014) Michal Zimmermann et al.   GENES & DEVELOPMENT

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

(2014) Hande Kocak et al.   GENES & DEVELOPMENT

A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice

(2014) D. Frescas et al.   GENES & DEVELOPMENT

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

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

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

TALEN Gene Knockouts Reveal No Requirement for the Conserved Human Shelterin Protein Rap1 in Telomere Protection and Length Regulation

(2014) Shaheen Kabir et al.   Cell Reports

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome

(2013) M. M. Gramatges et al.   BLOOD

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

(2013) Ylli Doksani et al.   CELL

Poly(A)-specific ribonuclease (PARN): An allosterically regulated, processive and mRNA cap-interacting deadenylase

(2013) Anders Virtanen et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Pulmonary fibrosis in dyskeratosis congenita withTINF2gene mutation

(2013) Atsuro Fukuhara et al.   EUROPEAN RESPIRATORY JOURNAL

Molecular basis of telomere syndrome caused by CTC1 mutations

(2013) L.-Y. Chen et al.   GENES & DEVELOPMENT

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

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

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

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

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

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

Human TEN1 Maintains Telomere Integrity and Functions in Genome-wide Replication Restart

(2013) Christopher Kasbek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

(2013) Zhong Deng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RTEL1 Is a Replisome-Associated Helicase That Promotes Telomere and Genome-Wide Replication

(2013) J.-B. Vannier et al.   SCIENCE

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

The DNA damage checkpoint response to replication stress: A Game of Forks

(2013) Rachel Jossen et al.   Frontiers in 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

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

(2012) Harriet Holme et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2012) Jean-Baptiste Vannier et al.   CELL

TPP1 OB-Fold Domain Controls Telomere Maintenance by Recruiting Telomerase to Chromosome Ends

(2012) Franklin L. Zhong et al.   CELL

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

(2012) Jason A Stewart et al.   EMBO JOURNAL

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

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

Telomerase Recruitment Requires both TCAB1 and Cajal Bodies Independently

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

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

(2012) Jayakrishnan Nandakumar et al.   NATURE

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

(2012) Beverley H Anderson et al.   NATURE GENETICS

CTC1 Mutations in a patient with dyskeratosis congenita

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

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

(2012) Feng Wang et al.   Cell Reports

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

(2012) Geraldine Aubert et al.   PLoS Genetics

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

(2011) E. M. Parry et al.   BLOOD

Human telomeric proteins occupy selective interstitial sites

(2011) Dong Yang et al.   CELL RESEARCH

Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex

(2011) Z-T Xin et al.   CLINICAL GENETICS

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

A role for heterochromatin protein 1  at human telomeres

(2011) S. Canudas 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

TIN2 Protein Dyskeratosis Congenita Missense Mutants Are Defective in Association with Telomerase

(2011) Dong Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

(2011) Jonathan K. Alder et al.   PLoS Genetics

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

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

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

(2010) Paula Martinez et al.   NATURE CELL BIOLOGY

Telomere Lengths, Pulmonary Fibrosis and Telomerase (TERT) Mutations

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

Syndromes of Telomere Shortening

(2009) Mary Armanios   Annual Review of Genomics and Human Genetics

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Mammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication

(2009) Agnel Sfeir et al.   CELL

Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs

(2009) C. Trahan et al.   HUMAN MOLECULAR GENETICS

In VivoStoichiometry of Shelterin Components

(2009) Kaori K. Takai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Investigation of Human Telomerase Holoenzyme Assembly, Activity, and Processivity Using Disease-linked Subunit Variants

(2009) Aaron R. Robart et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Telomere Protection by TPP1 Is Mediated by POT1a and POT1b

(2009) T. Kibe et al.   MOLECULAR AND CELLULAR BIOLOGY

Conserved Telomere Maintenance Component 1 Interacts with STN1 and Maintains Chromosome Ends in Higher Eukaryotes

(2009) Yulia V. Surovtseva et al.   MOLECULAR CELL

A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

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

Ku86 represses lethal telomere deletion events in human somatic cells

(2009) Y. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

(2009) P. N. Grozdanov et al.   RNA

A Human Telomerase Holoenzyme Protein Required for Cajal Body Localization and Telomere Synthesis

(2009) A. S. Venteicher et al.   SCIENCE

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

RTEL1 Maintains Genomic Stability by Suppressing Homologous Recombination

(2008) Louise J. Barber et al.   CELL

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

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