Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation (Q34642720)

3 August 2017

title

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation (English)

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3 August 2017

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Janine E Bullard

1

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3 August 2017

Lawrence M Nogee

series ordinal

2

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3 August 2017

language of work or name

English

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publication date

1 August 2007

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3 August 2017

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3 August 2017

volume

62

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3 August 2017

issue

2

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3 August 2017

page(s)

176-179

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Function of surfactant proteins B and C

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1203/PDR.0B013E3180A72588

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Surfactant protein C biosynthesis and its emerging role in conformational lung disease

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Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred

21 January 2018

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Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene

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Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF

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A common mutation in the surfactant protein C gene associated with lung disease.

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Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene

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Altered stability of pulmonary surfactant in SP-C-deficient mice

21 January 2018

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Pneumonitis and emphysema in sp-C gene targeted mice

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The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3

21 January 2018

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ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

21 January 2018

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Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3

21 January 2018

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Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome

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Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles.

21 January 2018

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ABCA3 gene mutations in newborns with fatal surfactant deficiency

21 January 2018

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ABCA3 mutations associated with pediatric interstitial lung disease

21 January 2018

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Low molecular weight human pulmonary surfactant protein (SP5): isolation, characterization, and cDNA and amino acid sequences

21 January 2018

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Sickle cell disease: no longer a single gene disorder

21 January 2018

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Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C.

21 January 2018

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Secretion of surfactant protein C, an integral membrane protein, requires the N-terminal propeptide

21 January 2018

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Expression of a Human Surfactant Protein C Mutation Associated with Interstitial Lung Disease Disrupts Lung Development in Transgenic Mice

21 January 2018

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Synthetic processing of surfactant protein C by alevolar epithelial cells. The COOH terminus of proSP-C is required for post-translational targeting and proteolysis

21 January 2018

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A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation

21 January 2018

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Surfactant Composition and Function in Patients with ABCA3 Mutations

21 January 2018

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10.1203/PDR.0B013E3180A72588

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

3 August 2017

1009898085

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