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Telomerase mutations in families with idiopathic pulmonary fibrosis.

• Mary Armanios, Julian J-L Chen, +10 authors James E Loyd
• The New England journal of medicine
• 2007

BACKGROUND Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase… (More)

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

• Tasha E Fingerlin, Elissa Murphy, +47 authors David A Schwartz
• Nature Genetics
• 2013

We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication… (More)

A common MUC5B promoter polymorphism and pulmonary fibrosis.

• Max A. Seibold, Anastasia L. Wise, +26 authors David A Schwartz
• The New England journal of medicine
• 2011

BACKGROUND The mutations that have been implicated in pulmonary fibrosis account for only a small proportion of the population risk. METHODS Using a genomewide linkage scan, we detected linkage… (More)

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

• Alan Q Thomas, Kirk F Lane, +11 authors James E Loyd
• American journal of respiratory and critical care…
• 2002

Familial pulmonary fibrosis is a heterogeneous group of interstitial lung diseases of unknown cause that is associated with multiple pathologic subsets. Mutations in the surfactant protein C (SP-C)… (More)

Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection.

• William E. Lawson, Peter F. Crossno, +10 authors Timothy S. Blackwell
• American journal of physiology. Lung cellular and…
• 2008

Recent evidence suggests that dysfunctional type II alveolar epithelial cells (AECs) contribute to the pathogenesis of idiopathic pulmonary fibrosis (IPF). Based on the hypothesis that… (More)

Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.

• William E. Lawson, Sarah W Grant, +13 authors Roland M du Bois
• Thorax
• 2004

BACKGROUND While idiopathic pulmonary fibrosis (IPF) is one of the most common forms of interstitial lung disease, the aetiology of IPF is poorly understood. Familial cases of pulmonary fibrosis… (More)

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

• Jonathan A. Kropski, Daphne B. Mitchell, +8 authors James E Loyd
• Chest
• 2014

Short telomeres are frequently identified in patients with idiopathic pulmonary fibrosis (IPF) and its inherited form, familial interstitial pneumonia (FIP). We identified a kindred with FIP with… (More)

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

• Peter F. Crossno, Vasiliy V. Polosukhin, +9 authors William E. Lawson
• Chest
• 2010

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two… (More)

Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis.

• Anna L. Peljto, Yingze Zhang, +19 authors David A Schwartz
• JAMA
• 2013

IMPORTANCE Current prediction models of mortality in idiopathic pulmonary fibrosis (IPF), which are based on clinical and physiological parameters, have modest value in predicting which patients will… (More)

Rare variants in RTEL1 are associated with familial interstitial pneumonia.

• Joy Cogan, Jonathan A. Kropski, +25 authors Timothy S. Blackwell
• American journal of respiratory and critical care…
• 2015

RATIONALE Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains… (More)

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