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

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

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

(2012) Peng Wu et al.   CELL

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

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

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease

(2012) Mary Armanios   PEDIATRIC BLOOD & CANCER

CTC1 Mutations in a patient with dyskeratosis congenita

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

Cdc13 OB2 Dimerization Required for Productive Stn1 Binding and Efficient Telomere Maintenance

(2012) Mark Mason et al.   STRUCTURE

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

(2012) Feng Wang et al.   Cell Reports

Telomere Biology and Telomere Diseases: Implications for Practice and Research

(2011) N. S. Young   Hematology-American Society of Hematology Education Program

Telomere dysfunction in human bone marrow failure syndromes

(2011) Ludmila Shtessel et al.   Nucleus

Oligonucleotide/oligosaccharide-binding fold proteins: a growing family of genome guardians

(2010) Rachel Litman Flynn et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Defending the end zone: Studying the players involved in protecting chromosome ends

(2010) Suzanne S. Chan et al.   FEBS LETTERS

Short Telomeres Resulting from Heritable Mutations in the Telomerase Reverse Transcriptase Gene Predispose for a Variety of Malignancies

(2009) Mark Hills et al.   Annals of the New York Academy of Sciences

Cdk1-Dependent Phosphorylation of Cdc13 Coordinates Telomere Elongation during Cell-Cycle Progression

(2009) Shang Li et al.   CELL

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

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

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

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

Telomere Diseases

(2009) Rodrigo T. Calado et al.   NEW ENGLAND JOURNAL OF MEDICINE

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 maintenance and human bone marrow failure

(2008) R. T. Calado 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

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