Literature DB >> 24269975

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

Jean-Pierre Gonçalves1, Liliana Pinheiro2, Miguel Costa2, Albina Silva2, Augusta Gonçalves3, Almerinda Pereira2.   

Abstract

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
Copyright © 2013 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  ABCA3; ATP-binding cassette A3 transporter; BAL; CT; DIP; LB; NBD; NKX2-1; RDS; Respiratory distress; SFTPB; SFTPC; Surfactant; broncho-alveolar lavage; computed tomography; desquamative interstitial pneumonitis; lamellar bodies; nucleotide binding domain; respiratory distress syndrome; surfactant protein-B; surfactant protein-C; thyroid transcription factor-1

Mesh：

Substances：

Year:  2013        PMID： 24269975     DOI： 10.1016/j.gene.2013.11.015

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


  8 in total

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Review 2.  The biology of the ABCA3 lipid transporter in lung health and disease.

Authors:  Michael F Beers; Surafel Mulugeta
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4.  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
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Review 5.  Channels and Transporters of the Pulmonary Lamellar Body in Health and Disease.

Authors:  Paul Dietl; Manfred Frick
Journal:  Cells       Date:  2021-12-24       Impact factor: 6.600

6.  A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.

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Journal:  BMC Med Genomics       Date:  2021-10-29       Impact factor: 3.063

7.  The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.

Authors:  Yaniv Tomer; Jennifer Wambach; Lars Knudsen; Ming Zhao; Luis R Rodriguez; Aditi Murthy; Frances V White; Alessandro Venosa; Jeremy Katzen; Matthias Ochs; Aaron Hamvas; Michael F Beers; Surafel Mulugeta
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2021-06-16       Impact factor: 6.011

8.  Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Authors:  Harry Pachajoa; Felipe Ruiz-Botero; Luis Enrique Meza-Escobar; Vania Alexandra Villota-Delgado; Adriana Ballesteros; Ivan Padilla; Diana Duarte
Journal:  J Med Case Rep       Date:  2016-09-26
  8 in total

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