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Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

ERJ Open Research

Nov 23, 2019

Neelam GiriSharon A Savage

Abstract

Pulmonary fibrosis and pulmonary arteriovenous malformations are known manifestations of dyskeratosis congenita (DC), a telomere biology disorder (TBD) and inherited bone marrow failure syndrome caused by germline mutations in telomere maintenance genes resulting in very short telomeres...read more

Mentioned in this Paper

Germ-Line Mutation
Lung
Telomere Recombination
Bone Marrow
Molecular_function
Pulmonary Fibrosis
Logistic Regression
Carbon Monoxide
Pulmonary Function Tests
Telomere
15
1
1
Paper Details
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Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

ERJ Open Research

Nov 23, 2019

Neelam GiriSharon A Savage

PMID: 31754622

DOI: 10.1183/23120541.00209-2019

Abstract

Pulmonary fibrosis and pulmonary arteriovenous malformations are known manifestations of dyskeratosis congenita (DC), a telomere biology disorder (TBD) and inherited bone marrow failure syndrome caused by germline mutations in telomere maintenance genes resulting in very short telomeres...read more

Mentioned in this Paper

Germ-Line Mutation
Lung
Telomere Recombination
Bone Marrow
Molecular_function
Pulmonary Fibrosis
Logistic Regression
Carbon Monoxide
Pulmonary Function Tests
Telomere
15
1
1

Similar Papers Found In These Feeds

Telomere Dysfunction

Telomere dysfunction in response to critical telomere shortening induces dna damage checkpoints that lead to cell cycle arrest and/or cell death.

Lung Fibrosis & Scleroderma

Scleroderma is a chronic autoimmune disease that leads to hardening of connective tissues in the body. Lung fibrosis and disease is one of the leading causes of deaths in patients with scleroderma. Here is the latest research.

Related Papers

Expert Review of Hematology

An update on the biology and management of dyskeratosis congenita and related telomere biology disorders

Expert Review of HematologySeptember 4, 2019
Marena R Niewisch, Sharon A Savage
Hematology/oncology Clinics of North America

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita

Hematology/oncology Clinics of North AmericaJuly 27, 2018
Suneet Agarwal
Paper Details
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    References currently unavailable

    We're still populating references for this paper, please check back later.
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