ABCA3 mutations associated with pediatric interstitial lung disease (Q34455684)

2 August 2017

ABCA3 mutations associated with pediatric interstitial lung disease (English)

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2 August 2017

Michael Dean

4

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author name string

Janine E Bullard

1

1 reference

2 August 2017

Susan E Wert

2

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2 August 2017

Jeffrey A Whitsett

3

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2 August 2017

Lawrence M Nogee

5

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2 August 2017

language of work or name

English

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publication date

23 June 2005

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American Journal of Respiratory and Critical Care Medicine

2 August 2017

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2 August 2017

172

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2 August 2017

1026-1031

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2 August 2017

8

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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.

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Pediatric interstitial lung disease revisited

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Genetic mechanisms of surfactant deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

ABCA3 gene mutations in newborns with fatal surfactant deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Alterations in SP-B and SP-C expression in neonatal lung disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

The phenotypic consequences of CFTR mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Genetic disorders of neonatal respiratory function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

A mutation in the surfactant protein C gene associated with familial interstitial lung disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Function of surfactant proteins B and C

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Generation and characterization of monoclonal antibodies to alveolar type II cell lamellar body membrane

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Molecular structures and interactions of pulmonary surfactant components

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Fibrosing alveolitis and desquamative interstitial pneumonitis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1403838

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards

6 July 2018

1 reference

12 December 2020

Mutations in the surfactant protein C gene associated with interstitial lung disease

1 reference

12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 49-1993. A 21-year-old woman with lifelong progressive interstitial lung disease

1 reference

12 December 2020

Nonspecific interstitial pneumonia/fibrosis. Histologic features and clinical significance

1 reference

12 December 2020

Chronic interstitial lung disease in children

1 reference

12 December 2020

Chronic pneumonitis of infancy. A unique form of interstitial lung disease occurring in early childhood

1 reference

12 December 2020

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

1 reference

12 December 2020

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency

1 reference

12 December 2020

10.1164/RCCM.200503-504OC

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference