Literature DB >> 17517255

Unexplained neonatal respiratory distress due to congenital surfactant deficiency.

Marco Somaschini1, Lawrence M Nogee, Isabella Sassi, Olivier Danhaive, Silvia Presi, Renata Boldrini, Cristina Montrasio, Maurizio Ferrari, Susan E Wert, Paola Carrera.   

Abstract

Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).

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Year:  2007        PMID： 17517255     DOI： 10.1016/j.jpeds.2007.03.008

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


  25 in total

Review 1.  Genetic interstitial lung disease.

Authors:  Megan Stuebner Devine; Christine Kim Garcia
Journal:  Clin Chest Med       Date:  2011-12-06       Impact factor: 2.878

2.  Large ABCA3 and SFTPC deletions resulting in lung disease.

Authors:  Lindsay B Henderson; Kristin Melton; Susan Wert; Jonathan Couriel; Andrew Bush; Michael Ashworth; Lawrence M Nogee
Journal:  Ann Am Thorac Soc       Date:  2013-12

3.  Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Authors:  Florence Flamein; Laure Riffault; Céline Muselet-Charlier; Julie Pernelle; Delphine Feldmann; Laurence Jonard; Anne-Marie Durand-Schneider; Aurore Coulomb; Michèle Maurice; Lawrence M Nogee; Nobuya Inagaki; Serge Amselem; Jean Christophe Dubus; Virginie Rigourd; François Brémont; Christophe Marguet; Jacques Brouard; Jacques de Blic; Annick Clement; Ralph Epaud; Loïc Guillot
Journal:  Hum Mol Genet       Date:  2011-11-07       Impact factor: 6.150

4.  Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Authors:  Tami H Garmany; Jennifer A Wambach; Hillary B Heins; Julie M Watkins-Torry; Daniel J Wegner; Kate Bennet; Ping An; Garland Land; Ola D Saugstad; Howard Henderson; Lawrence M Nogee; F Sessions Cole; Aaron Hamvas
Journal:  Pediatr Res       Date:  2008-06       Impact factor: 3.756

Review 5.  Surfactant dysfunction.

Authors:  W Adam Gower; Lawrence M Nogee
Journal:  Paediatr Respir Rev       Date:  2011-03-05       Impact factor: 2.726

6.  Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Authors:  Donatella Peca; Renata Boldrini; Jan Johannson; Joseph T Shieh; Arianna Citti; Stefania Petrini; Teresa Salerno; Salvatore Cazzato; Raffaele Testa; Francesco Messina; Alfredo Onofri; Giovanna Cenacchi; Per Westermark; Nicola Ullmann; Nicola Ullman; Paola Cogo; Renato Cutrera; Olivier Danhaive
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

Review 7.  Diseases of pulmonary surfactant homeostasis.

Authors:  Jeffrey A Whitsett; Susan E Wert; Timothy E Weaver
Journal:  Annu Rev Pathol       Date:  2015       Impact factor: 23.472

Review 8.  Interstitial lung disease in infants: new classification system, imaging technique, clinical presentation and imaging findings.

Authors:  Edward Y Lee
Journal:  Pediatr Radiol       Date:  2012-11-15

Review 9.  Genetic disorders of surfactant dysfunction.

Authors:  Susan E Wert; Jeffrey A Whitsett; Lawrence M Nogee
Journal:  Pediatr Dev Pathol       Date:  2009 Jul-Aug

10.  Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Authors:  Aaron Hamvas; Lawrence M Nogee; Daniel J Wegner; Kelcey Depass; John Christodoulou; Bruce Bennetts; Leon R McQuade; Peter H Gray; Robin R Deterding; Travis R Carroll; Anja Kammesheidt; Laura M Kasch; Shashikant Kulkarni; F Sessions Cole
Journal:  J Pediatr       Date:  2009-08-03       Impact factor: 4.406
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