Telomerase mutations in families with idiopathic pulmonary fibrosis.

By M. Armanios, Julian J‐L Chen, J. Cogan, J. Alder, R. Ingersoll, C. Markin, William E Lawson, Mingyi Xie, I. Vulto, J. Phillips and 3 more. New England Journal of Medicine, 2007

1,312 citations recorded by the source corpus.

Subfields: Genetics, Physiology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/3a45984a6148a7ca7ffb634a056569889bdc1588

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. M. Blasco
2. Thomas Tuschl

In Physiology

1. J. Karlseder
2. Roderick J. O’Sullivan
3. M. Blasco
4. Peter M. Lansdorp
5. A. Alimonti
6. J. Kohli
7. E. Zagato
8. N. Marchetto

Citations in the corpus

• Short telomeres are a risk factor for idiopathic pulmonary fibrosis (2008, background): “In IPF families with telomerase mutations, cases of aplastic anemia can be hidden and are uncovered after a thorough family history, suggesting that mutations in telomerase have heterogeneous manifestations in an individual patient and within families, and that a subset of families with IPF falls on”
• Cellular Senescence: Aging, Cancer, and Injury. (2019, background): “Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by decreased lung function due to persistent scarring.”
• A census of human RNA-binding proteins (2014, background): “telRNAbinding developmental / cardiovascular/ pulmonary disease TERT coronary artery disease, dyskeratosis congenita, aplastic anemia missense mutation, frameshift (Armanios et al., 2007; Marrone et al., 2007; Tsakiri et al., 2007; Yamaguchi et al., 2005)”
• Telomeres: protecting chromosomes against genome instability (2010, background): “The discovery that short telomeres correlate with idiopathic pulmonary fibrosis eventually led to the finding that heterozygous mutations in TERT or TERC can be the cause of the diseas”
• Telomeres and aging. (2008, background): “Recent studies have shown that mutations in the genes encoding telomerase components are also implicated in familial idiopathic pulmonary fibrosis (6, 209).”
• Mechanisms of fibrosis: therapeutic translation for fibrotic disease (2012, neutral): “This shortening has been attributed to mutations in the gene encoding telomerase reverse transcriptase (TERT), an enzyme crucial to the maintenance of telomere length in adult stem cells 130–132 .”
• Linking functional decline of telomeres, mitochondria and stem cells during ageing (2010, neutral): “However, TERC or TERT mutations have been linked to more organ-restricted dysfunction as well, for instance to idiopathic pulmonary fibrosis (a progressive fatal lung disease with excessive scarring”
• Telomeres: Linking stress and survival, ecology and evolution (2010, background): “Furthermore, short telomeres are a risk factor in cardiovascular disease (Samani et al., 2001), liver cirrhosis (Mason et al., 2005), pulmonary fibrosis (Armanios et al., 2007), diabetes (Valdes et al., 2005), stroke (Martin-Ruiz et al., 2006), and Alzheimer’s disease (Honig et al., 2006).”
• Telomere length, stem cells and aging. (2007, background): “This further expands the number of human diseases characterized by regeneration defects that are associated with telomerase defect”