An intronic ABCA3 mutation that is responsible for respiratory disease (Q36713716)

15 August 2017

An intronic ABCA3 mutation that is responsible for respiratory disease (English)

1 reference

15 August 2017

1 reference

Amit Agrawal

1 reference

15 August 2017

Aaron Hamvas

1 reference

15 August 2017

F Sessions Cole

1 reference

15 August 2017

Jennifer A Wambach

1 reference

15 August 2017

Daniel Wegner

1 reference

15 August 2017

Carl Coghill

1 reference

15 August 2017

Keith Harrison

1 reference

15 August 2017

Lawrence M Nogee

1 reference

15 August 2017

language of work or name

English

0 references

publication date

15 February 2012

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

633-637

1 reference

High-throughput discovery of rare insertions and deletions in large cohorts

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Quantification of rare allelic variants from pooled genomic DNA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD pathology co-operative group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

ABCA3 mutations associated with pediatric interstitial lung disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

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.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

ABCA3 gene mutations in newborns with fatal surfactant deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Clearance and recycling of pulmonary surfactant

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Surfactant phospholipids: synthesis and storage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Expression of ABCA3 in developing lung and other tissues

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Variant cystic fibrosis phenotypes in the absence of CFTR mutations

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Surfactant Composition and Function in Patients with ABCA3 Mutations

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607324

Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis

4 December 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.21

Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.21

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.21

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.21

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2012.21

31 March 2020

Identifiers

DOI

10.1038/PR.2012.21

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

22337229

1 reference