Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Rare Variants inRTEL1Are Associated with Familial Interstitial Pneumonia

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

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

(2015) Amany I. Gorgy et al.   CHEST

Exome Sequencing Identifies Mutant TINF2 in a Family With Pulmonary Fibrosis

(2015) Jonathan K. Alder et al.   CHEST

The short and long telomere syndromes: paired paradigms for molecular medicine

(2015) Susan E Stanley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Human telomerase: biogenesis, trafficking, recruitment, and activation

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

Binding of STIL to Plk4 activates kinase activity to promote centriole assembly

(2015) Tyler C. Moyer et al.   JOURNAL OF CELL BIOLOGY

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

RNA-guided isomerization of uridine to pseudouridine—pseudouridylation

(2015) Yi-Tao Yu et al.   RNA Biology

The Noncoding RNA Revolution—Trashing Old Rules to Forge New Ones

(2014) Thomas R. Cech et al.   CELL

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis

(2014) L. L. Silhan et al.   EUROPEAN RESPIRATORY JOURNAL

Telomerase mutations in smokers with severe emphysema

(2014) Susan E. Stanley et al.   JOURNAL OF CLINICAL INVESTIGATION

Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells

(2014) Thomas M. Carlile et al.   NATURE

CDD: NCBI's conserved domain database

(2014) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Generation of gene-modified mice via Cas9/RNA-mediated gene targeting

(2013) Bin Shen et al.   CELL RESEARCH

A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

(2013) Karen A. Pooley 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

Identification of seven loci affecting mean telomere length and their association with disease

(2013) Veryan Codd et al.   NATURE GENETICS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Genetics of Ribosomal Proteins: “Curiouser and Curiouser”

(2013) Tamara Terzian et al.   PLoS Genetics

The gastrointestinal manifestations of telomere-mediated disease

(2012) Naudia L. Jonassaint et al.   AGING CELL

Biogenesis of telomerase ribonucleoproteins

(2012) E. D. Egan et al.   RNA

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

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

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

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

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

Phenotypes in mTERT+/- and mTERT-/- Mice Are Due to Short Telomeres, Not Telomere-Independent Functions of Telomerase Reverse Transcriptase

(2011) M. A. Strong et al.   MOLECULAR AND CELLULAR BIOLOGY

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Telomerase and idiopathic pulmonary fibrosis

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

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

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

Removal of Spindly from microtubule-attached kinetochores controls spindle checkpoint silencing in human cells

(2010) R. Gassmann et al.   GENES & DEVELOPMENT

Syndromes of Telomere Shortening

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

Comparing effects of mTR and mTERT deletion on gene expression and DNA damage response: a critical examination of telomere length maintenance-independent roles of telomerase

(2009) Sofia L. Vidal-Cardenas et al.   NUCLEIC ACIDS RESEARCH

Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

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

Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

(2008) Andrew S. Venteicher et al.   CELL

The Jpred 3 secondary structure prediction server

(2008) C. Cole et al.   NUCLEIC ACIDS RESEARCH

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