Literature DB >> 23932215

Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.

W Adam Gower1, Lawrence M Nogee.   

Abstract

Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.
Copyright © 2013 Mosby, Inc. All rights reserved.

Entities:  

Keywords:  DLD; Diffuse lung disease; SFTPD; SNP; SP; Single nucleotide polymorphism; Surfactant protein; Surfactant protein D gene

Mesh：

Substances：

Year:  2013        PMID： 23932215      PMCID： PMC3846094          DOI： 10.1016/j.jpeds.2013.06.063

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


  13 in total

1.  Increased metalloproteinase activity, oxidant production, and emphysema in surfactant protein D gene-inactivated mice.

Authors:  S E Wert; M Yoshida; A M LeVine; M Ikegami; T Jones; G F Ross; J H Fisher; T R Korfhagen; J A Whitsett
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

2.  Surfactant metabolism in SP-D gene-targeted mice.

Authors:  M Ikegami; J A Whitsett; A Jobe; G Ross; J Fisher; T Korfhagen
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2000-09       Impact factor: 5.464

3.  Surfactant protein-D regulates effector cell function and fibrotic lung remodeling in response to bleomycin injury.

Authors:  Yoshinori Aono; Julie G Ledford; Sambuddho Mukherjee; Hirohisa Ogawa; Yasuhiko Nishioka; Saburo Sone; Michael F Beers; Paul W Noble; Jo Rae Wright
Journal:  Am J Respir Crit Care Med       Date:  2011-12-28       Impact factor: 21.405

4.  Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress.

Authors:  Meenakshi Maitra; Yongyu Wang; Robert D Gerard; Carole R Mendelson; Christine Kim Garcia
Journal:  J Biol Chem       Date:  2010-05-13       Impact factor: 5.157

5.  Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

Authors:  Yongyu Wang; Phillip J Kuan; Chao Xing; Jennifer T Cronkhite; Fernando Torres; Randall L Rosenblatt; J Michael DiMaio; Lisa N Kinch; Nick V Grishin; Christine Kim Garcia
Journal:  Am J Hum Genet       Date:  2008-12-18       Impact factor: 11.025

6.  Surfactant protein-D regulates surfactant phospholipid homeostasis in vivo.

Authors:  T R Korfhagen; V Sheftelyevich; M S Burhans; M D Bruno; G F Ross; S E Wert; M T Stahlman; A H Jobe; M Ikegami; J A Whitsett; J H Fisher
Journal:  J Biol Chem       Date:  1998-10-23       Impact factor: 5.157

7.  Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D.

Authors:  C Botas; F Poulain; J Akiyama; C Brown; L Allen; J Goerke; J Clements; E Carlson; A M Gillespie; C Epstein; S Hawgood
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-29       Impact factor: 11.205

8.  ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Authors:  Sergey Shulenin; Lawrence M Nogee; Tarmo Annilo; Susan E Wert; Jeffrey A Whitsett; Michael Dean
Journal:  N Engl J Med       Date:  2004-03-25       Impact factor: 91.245

Review 9.  Immunomodulatory roles of surfactant proteins A and D: implications in lung disease.

Authors:  Amy M Pastva; Jo Rae Wright; Kristi L Williams
Journal:  Proc Am Thorac Soc       Date:  2007-07

Review 10.  Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury.

Authors:  Patricia Silveyra; Joanna Floros
Journal:  Front Biosci (Landmark Ed)       Date:  2012-01-01
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  5 in total

Review 1.  Genetic causes of surfactant protein abnormalities.

Authors:  Lawrence M Nogee
Journal:  Curr Opin Pediatr       Date:  2019-06       Impact factor: 2.856

Review 2.  The oncogenic landscape of the idiopathic pulmonary fibrosis: a narrative review.

Authors:  Giulia Maria Stella; Vito D'Agnano; Davide Piloni; Laura Saracino; Sara Lettieri; Francesca Mariani; Andrea Lancia; Chandra Bortolotto; Pietro Rinaldi; Francesco Falanga; Cristiano Primiceri; Angelo Guido Corsico; Andrea Bianco
Journal:  Transl Lung Cancer Res       Date:  2022-03

3.  Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant.

Authors:  Naveen Parkash Gupta; Anil Batra; Ratna Puri; Varun Meena
Journal:  BMJ Case Rep       Date:  2020-10-10

Review 4.  Genetic Testing for Neonatal Respiratory Disease.

Authors:  Lawrence M Nogee; Rita M Ryan
Journal:  Children (Basel)       Date:  2021-03-11

Review 5.  Surfactant Protein D in Respiratory and Non-Respiratory Diseases.

Authors:  Grith L Sorensen
Journal:  Front Med (Lausanne)       Date:  2018-02-08
  5 in total

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