Literature DB >> 16355106

Neonatal respiratory failure associated with mutation in the surfactant protein C gene.

A S Soraisham1, A J Tierney, H J Amin.   

Abstract

We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.

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Year:  2006        PMID： 16355106     DOI： 10.1038/sj.jp.7211417

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  14 in total

1.  Site-specific differences in gene expression of secreted proteins in the mouse lung: comparison of methods to show differences by location.

Authors:  Katherine M Sutherland; Trenton J Combs; Patricia C Edwards; Laura S Van Winkle
Journal:  J Histochem Cytochem       Date:  2010-09-17       Impact factor: 2.479

Review 2.  Surfactant dysfunction.

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

3.  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

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

Review 5.  Genetic disorders of surfactant dysfunction.

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

6.  Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.

Authors:  Mei Wang; James P Bridges; Cheng-Lun Na; Yan Xu; Timothy E Weaver
Journal:  J Biol Chem       Date:  2009-10-08       Impact factor: 5.157

7.  Imaging of Childhood Interstitial Lung Disease.

Authors:  R Paul Guillerman
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2010-03       Impact factor: 1.349

8.  Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.

Authors:  Jeroen van Hoorn; Arno Brouwers; Matthias Griese; Boris Kramer
Journal:  BMJ Case Rep       Date:  2014-03-19

9.  Two mutations in surfactant protein C gene associated with neonatal respiratory distress.

Authors:  Anna Tarocco; Elisa Ballardini; Maria Raffaella Contiero; Giampaolo Garani; Silvia Fanaro
Journal:  Case Rep Pediatr       Date:  2015-04-27

Review 10.  Genetic risk factors associated with respiratory distress syndrome.

Authors:  Heui Seung Jo
Journal:  Korean J Pediatr       Date:  2014-04-30
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