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

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

(2015) Grzegorz Sarek et al.   MOLECULAR CELL

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

(2015) Michael Schertzer et al.   NUCLEIC ACIDS RESEARCH

Human dyskerin: beyond telomeres

(2014) Alberto Angrisani et al.   BIOLOGICAL CHEMISTRY

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

(2014) Y. Guo et al.   BLOOD

Transcriptome-wide Mapping Reveals Widespread Dynamic-Regulated Pseudouridylation of ncRNA and mRNA

(2014) Schraga Schwartz et al.   CELL

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

Telomere length in inherited bone marrow failure syndromes

(2014) B. P. Alter et al.   HAEMATOLOGICA

RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility

(2014) Aisling Frizzell 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

p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage

(2013) J. Carrillo et al.   Clinical & Translational Oncology

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

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects

(2013) Marie Eve Brault et al.   HUMAN MOLECULAR 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

Severity of X-linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin (DKC1) Activity in Ribosomal RNA Biogenesis or mRNA Translation

(2013) Naresh R. Thumati et al.   HUMAN MUTATION

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

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

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex

(2013) Paraskevi Vogiatzi et al.   PEDIATRIC BLOOD & CANCER

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

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

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

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

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

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

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

(2012) Franklin L. Zhong et al.   CELL

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

RTEL1 contributes to DNA replication and repair and telomere maintenance

(2012) Evert-Jan Uringa et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2012) Jayakrishnan Nandakumar et al.   NATURE

Connecting complex disorders through biology

(2012) Sharon A Savage   NATURE GENETICS

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

TCAB1: Driving telomerase to Cajal bodies

(2011) Andrew S. Venteicher et al.   CELL CYCLE

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

The H/ACA RNP assembly factor SHQ1 functions as an RNA mimic

(2011) H. Walbott 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

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

(2011) Xi-Lei Zeng et al.   HUMAN MOLECULAR GENETICS

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita

(2011) Fabien Touzot et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

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

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

Telomere Protection by TPP1/POT1 Requires Tethering to TIN2

(2011) Kaori K. Takai et al.   MOLECULAR CELL

rRNA Pseudouridylation Defects Affect Ribosomal Ligand Binding and Translational Fidelity from Yeast to Human Cells

(2011) Karen Jack et al.   MOLECULAR CELL

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

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

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

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

(2010) Petra van der Lelij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) T Vulliamy et al.   CLINICAL GENETICS

Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita

(2010) Cristian Bellodi et al.   EMBO JOURNAL

The genetics and clinical manifestations of telomere biology disorders

(2010) Sharon A. Savage et al.   GENETICS IN MEDICINE

Box H/ACA Small Ribonucleoproteins

(2010) Tamás Kiss et al.   MOLECULAR CELL

Zscan4 regulates telomere elongation and genomic stability in ES cells

(2010) Michal Zalzman et al.   NATURE

Positive feedback between p53 and TRF2 during telomere-damage signalling and cellular senescence

(2010) Kaori Fujita et al.   NATURE CELL BIOLOGY

Effect of pseudouridylation on the structure and activity of the catalytically essential P6.1 hairpin in human telomerase RNA

(2010) Nak-Kyoon Kim et al.   NUCLEIC ACIDS RESEARCH

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

Structure, function and evolution of the XPD family of iron–sulfur-containing 5′→3′ DNA helicases

(2009) Malcolm F. White   BIOCHEMICAL SOCIETY TRANSACTIONS

Single-Molecule Analysis of the Human Telomerase RNA·Dyskerin Interaction and the Effect of Dyskeratosis Congenita Mutations

(2009) Beth Ashbridge et al.   BIOCHEMISTRY

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

DOG 1.0: illustrator of protein domain structures

(2009) Jian Ren et al.   CELL RESEARCH

Dyskeratosis Congenita

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

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita

(2009) P. N. Grozdanov et al.   HUMAN MOLECULAR GENETICS

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

Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings

(2009) Shigeko Kuwashima   JAPANESE JOURNAL OF RADIOLOGY

Severe Variant of X-linked Dyskeratosis Congenita (Hoyeraal-Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

(2009) Ingo Borggraefe et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

A Conserved WD40 Protein Binds the Cajal Body Localization Signal of scaRNP Particles

(2009) Kazimierz T. Tycowski et al.   MOLECULAR CELL

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

(2009) Noa Lamm et al.   PLoS One

Using Mice to Examine p53 Functions in Cancer, Aging, and Longevity

(2009) L. A. Donehower   Cold Spring Harbor Perspectives in Biology

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

An intronic mutation inDKC1in an infant with Høyeraal-Hreidarsson syndrome

(2008) Toni Pearson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Welcome the Family of FANCJ-like Helicases to the Block of Genome Stability Maintenance Proteins

(2008) Y. Wu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

(2008) L. Basel-Vanagaite et al.   HAEMATOLOGICA

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: A historical perspective

(2007) Amanda J. Walne et al.   MECHANISMS OF AGEING AND DEVELOPMENT