(Q30578066)

13 September 2017

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant (English)

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13 September 2017

1 reference

1

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13 September 2017

2

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13 September 2017

Zamir Kadija

4

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Francesca Mariani

object named as

Francesca Mariani

3

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Gerhard Liebisch

object named as

Gerhard Liebisch

10

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Maurizio Luisetti

14

object named as

Maurizio Luisetti

1 reference

13 September 2017

Patrizia Morbini

5

1 reference

13 September 2017

Roberto Dore

6

1 reference

13 September 2017

Eva Kaltenborn

7

1 reference

13 September 2017

Sabrina Frixel

8

1 reference

13 September 2017

Ralf Zarbock

9

1 reference

13 September 2017

Jan Hegermann

11

1 reference

13 September 2017

Christoph Wrede

12

1 reference

13 September 2017

Matthias Griese

13

1 reference

13 September 2017

15 April 2014

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13 September 2017

1 reference

13 September 2017

15

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13 September 2017

43

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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Shorthand notation for lipid structures derived from mass spectrometry.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Idiopathic pulmonary fibrosis: update on genetic discoveries

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

The surfactant lipid transporter ABCA3 is N‐terminally cleaved inside LAMP3‐positive vesicles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Review: The intersection of surfactant homeostasis and innate host defense of the lung: lessons from newborn infants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Lung alveolar epithelium and interstitial lung disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Genetic disorders of surfactant dysfunction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Functional analysis of novel SNPs and mutations in human and mouse genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Diffuse lung disease in young children: application of a novel classification scheme

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Gene expression profiling of familial and sporadic interstitial pneumonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Clinical and pathologic features of familial interstitial pneumonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

ABCA3 mutations associated with pediatric interstitial lung disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Interstitial lung disease in children -- genetic background and associated phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

ABCA3 gene mutations in newborns with fatal surfactant deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

The use of lead citrate at high pH as an electron-opaque stain in electron microscopy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Surfactant protein B in type II pneumocytes and intra-alveolar surfactant forms of human lungs.

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-15-43

Familial idiopathic pulmonary fibrosis: clinical features and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-15-43

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-15-43

Genetic association of SP-C with duration of preterm premature rupture of fetal membranes and expression in gestational tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1465-9921-15-43

High throughput quantification of cholesterol and cholesteryl ester by electrospray ionization tandem mass spectrometry (ESI-MS/MS).

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

High-throughput quantification of phosphatidylcholine and sphingomyelin by electrospray ionization tandem mass spectrometry coupled with isotope correction algorithm

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021316

Serological diagnosis of idiopathic pulmonary alveolar proteinosis

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation

1 reference

12 December 2020

Clinical, radiological and pathological features of ABCA3 mutations in children

1 reference

12 December 2020

Usual interstitial pneumonia in an adolescent with ABCA3 mutations

1 reference

12 December 2020

Identifiers

DOI

10.1186/1465-9921-15-43

1 reference

Dimensions Publication ID

13 September 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1465-9921-15-43

1 reference

13 September 2017

PubMed publication ID

24730976

1 reference