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Literature DB >> 22240110

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Timothy J Vece¹, Marc G Schecter, Richard A Gatti, Rashmi Tunuguntla, Christine Kim Garcia, Claire Langston, Megan K Dishop, Robert H Moore, Leland L Fan.

Abstract

Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family. Copyright Â

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2012 PMID： 22240110 PMCID： PMC4835171 DOI： 10.1016/j.jpeds.2011.12.001

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

10 in total

1. Evaluation and management of pulmonary disease in ataxia-telangiectasia.

Authors: Sharon A McGrath-Morrow; W Adam Gower; Cynthia Rothblum-Oviatt; Alan S Brody; Claire Langston; Leland L Fan; Maureen A Lefton-Greif; Thomas O Crawford; Michelle Troche; John T Sandlund; Paul G Auwaerter; Blaine Easley; Gerald M Loughlin; John L Carroll; Howard M Lederman
Journal: Pediatr Pulmonol Date: 2010-09

2. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins.

Authors: Carsten Doil; Niels Mailand; Simon Bekker-Jensen; Patrice Menard; Dorthe Helena Larsen; Rainer Pepperkok; Jan Ellenberg; Stephanie Panier; Daniel Durocher; Jiri Bartek; Jiri Lukas; Claudia Lukas
Journal: Cell Date: 2009-02-06 Impact factor: 41.582

Review 3. DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'.

Authors: Shareef A Nahas; Richard A Gatti
Journal: Curr Opin Allergy Clin Immunol Date: 2009-12

4. Genetic Basis of Children's Interstitial Lung Disease.

Authors: Lawrence M Nogee
Journal: Pediatr Allergy Immunol Pulmonol Date: 2010-03 Impact factor: 1.349

5. Interstitial lung disease in patients with ataxia-telangiectasia.

Authors: Scott A Schroeder; Michael Swift; Claudio Sandoval; Claire Langston
Journal: Pediatr Pulmonol Date: 2005-06

6. Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

Authors: S S Devgan; O Sanal; C Doil; K Nakamura; S A Nahas; K Pettijohn; J Bartek; C Lukas; J Lukas; R A Gatti
Journal: Cell Death Differ Date: 2011-03-11 Impact factor: 15.828

Review 7. Telomere diseases.

Authors: Rodrigo T Calado; Neal S Young
Journal: N Engl J Med Date: 2009-12-10 Impact factor: 91.245

Review 8. Solving the RIDDLE of 53BP1 recruitment to sites of damage.

Authors: Grant S Stewart
Journal: Cell Cycle Date: 2009-05-04 Impact factor: 4.534

9. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.

Authors: Grant S Stewart; Stephanie Panier; Kelly Townsend; Abdallah K Al-Hakim; Nadine K Kolas; Edward S Miller; Shinichiro Nakada; Jarkko Ylanko; Signe Olivarius; Megan Mendez; Ceri Oldreive; Jan Wildenhain; Andrea Tagliaferro; Laurence Pelletier; Nadine Taubenheim; Anne Durandy; Philip J Byrd; Tatjana Stankovic; A Malcolm R Taylor; Daniel Durocher
Journal: Cell Date: 2009-02-06 Impact factor: 41.582

10. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

Authors: Xia Sun; Sara G Becker-Catania; Helen H Chun; Mee Jeong Hwang; Yong Huo; Zhijun Wang; Midori Mitui; Ozden Sanal; Luciana Chessa; Barbara Crandall; Richard A Gatti
Journal: J Pediatr Date: 2002-06 Impact factor: 4.406