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Joy D. Cogan

Researcher at Vanderbilt University Medical Center

Publications -  109
Citations -  7741

Joy D. Cogan is an academic researcher from Vanderbilt University Medical Center. The author has contributed to research in topics: Gene & Medicine. The author has an hindex of 41, co-authored 95 publications receiving 6593 citations. Previous affiliations of Joy D. Cogan include Vanderbilt University.

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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

TL;DR: In this paper, the authors found that mutations in the genes encoding telomerase components can appear as familial idiopathic pulmonary fibrosis, which is a rare hereditary disorder associated with premature death from aplastic anemia and lung fibrosis.
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Short telomeres are a risk factor for idiopathic pulmonary fibrosis

TL;DR: Short telomeres are a signature in IIPs and likely play a role in their age-related onset, and the clustering of cryptogenic liver cirrhosis with IPF suggests that the telomere shortening can contribute to what appears clinically as idiopathic progressive organ failure in the lung and the liver.
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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

TL;DR: The results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.
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Mutations in PROP1 cause familial combined pituitary hormone deficiency

TL;DR: The results identify a major cause of CPHD in humans and suggest a direct or indirect role for PROP1 in the ontogenesis of pituitary gonadotropes, as well as somatotrope, lactotropes and caudomedial thyrotropes.
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Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

TL;DR: Variations in oestrogens and oestrogen metabolism modify FPAH risk, and gene expression data implicating the oest estrogen-metabolising enzyme CYP1B1 suggests a detrimental role.