Literature DB >> 15572558

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.

S Percopo, H S Cameron, L M Nogee, G Pettinato, S Montella, F Santamaria.   

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Year:  2004        PMID： 15572558     DOI： 10.1183/09031936.04.00092304

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  13 in total

1.  Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation.

Authors:  Deborah R Liptzin; Tarak Patel; Robin R Deterding
Journal:  Am J Respir Crit Care Med       Date:  2015-06-01       Impact factor: 21.405

2.  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

3.  A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy.

Authors:  Arie Hawkins; Susan H Guttentag; Robin Deterding; William K Funkhouser; Jennifer L Goralski; Shampa Chatterjee; Surafel Mulugeta; Michael F Beers
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2014-10-24       Impact factor: 5.464

4.  Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

Authors:  Whitney B Eldridge; Qunyuan Zhang; Albert Faro; Stuart C Sweet; Pirooz Eghtesady; Aaron Hamvas; F Sessions Cole; Jennifer A Wambach
Journal:  J Pediatr       Date:  2017-02-16       Impact factor: 4.406

5.  A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.

Authors:  Michael F Beers; Arie Hawkins; Jean Ann Maguire; Adam Kotorashvili; Ming Zhao; Jennifer L Newitt; Wenge Ding; Scott Russo; Susan Guttentag; Linda Gonzales; Surafel Mulugeta
Journal:  Traffic       Date:  2011-06-28       Impact factor: 6.215

6.  Persistence of LPS-induced lung inflammation in surfactant protein-C-deficient mice.

Authors:  Stephan W Glasser; Melissa D Maxfield; Teah L Ruetschilling; Henry T Akinbi; John E Baatz; Joseph A Kitzmiller; Kristen Page; Yan Xu; Erik L Bao; Thomas R Korfhagen
Journal:  Am J Respir Cell Mol Biol       Date:  2013-11       Impact factor: 6.914

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

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

Review 8.  Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Authors:  Surafel Mulugeta; Shin-Ichi Nureki; Michael F Beers
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2015-07-17       Impact factor: 5.464

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.  The past and future of genetics in pulmonary disease: You can teach an old dog new tricks.

Authors:  Lawrence M Nogee; Aaron Hamvas
Journal:  Pediatr Pulmonol       Date:  2020-07
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