Mutations inSTN1cause Coats plus syndrome and are associated with genomic and telomere defects

Stn1 is critical for telomere maintenance and long-term viability of somatic human cells

(2015) Virginia Boccardi et al.   AGING CELL

Bone marrow failure and the telomeropathies

(2014) D. M. Townsley et al.   BLOOD

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome

(2014) Shira Sagie et al.   HUMAN MOLECULAR GENETICS

Telomeropathies: An emerging spectrum disorder

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

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

(2013) Peili Gu et al.   AGING CELL

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

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

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structure of the Human Telomeric Stn1-Ten1 Capping Complex

(2013) Christopher Bryan et al.   PLoS One

Pomalidomide is nonteratogenic in chicken and zebrafish embryos and nonneurotoxic in vitro

(2013) C. Mahony et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CST for the grand finale of telomere replication

(2013) Liuh-Yow Chen et al.   Nucleus

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

(2013) Shiran Yehezkel et al.   Frontiers in Oncology

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

Revealing the role of phospholipase C 3 in the regulation of VEGF-induced vascular permeability

(2012) L. H. Hoeppner et al.   BLOOD

Human Stn1 protects telomere integrity by promoting efficient lagging-strand synthesis at telomeres and mediating C-strand fill-in

(2012) Chenhui Huang et al.   CELL RESEARCH

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

The human CST complex is a terminator of telomerase activity

(2012) Liuh-Yow Chen et al.   NATURE

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

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

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

Five dysfunctional telomeres predict onset of senescence in human cells

(2011) Zeenia Kaul et al.   EMBO REPORTS

Shelterin complex and associated factors at human telomeres

(2011) Raffaella Diotti et al.   Nucleus

Molecular steps of G-overhang generation at human telomeres and its function in chromosome end protection

(2010) Xueyu Dai et al.   EMBO JOURNAL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Telomeric recombination induced by dysfunctional telomeres

(2010) Marie Eve Brault et al.   MOLECULAR BIOLOGY OF THE CELL

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A DNA Polymerase-α·Primase Cofactor with Homology to Replication Protein A-32 Regulates DNA Replication in Mammalian Cells

(2009) Darren E. Casteel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

OB Fold-containing Protein 1 (OBFC1), a Human Homolog of Yeast Stn1, Associates with TPP1 and Is Implicated in Telomere Length Regulation

(2009) Ma Wan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RPA-like Mammalian Ctc1-Stn1-Ten1 Complex Binds to Single-Stranded DNA and Protects Telomeres Independently of the Pot1 Pathway

(2009) Yasuyuki Miyake et al.   MOLECULAR CELL

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

(2009) Noa Lamm et al.   PLoS One

How Telomeres Solve the End-Protection Problem

(2009) T. de Lange   SCIENCE

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

(2008) Shiran Yehezkel et al.   HUMAN MOLECULAR GENETICS

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols