(Q35688609)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Nobuya Inagaki

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Virginie Rigourd

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Loic Guillot

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Florence Flamein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Céline Muselet-Charlier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Julie Pernelle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Delphine Feldmann

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Laurence Jonard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Anne-Marie Durand-Schneider

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Aurore Coulomb

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Michèle Maurice

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Lawrence M Nogee

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Serge Amselem

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jean Christophe Dubus

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

François Brémont

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Christophe Marguet

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jacques Brouard

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jacques de Blic

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Annick Clement

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Ralph Epaud

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

language of work or name

1 reference

7 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

21

1 reference

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16 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

765-775

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

Comparative proteomic analysis of lung lamellar bodies and lysosome-related organelles

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Cryptococcus neoformans induces IL-8 secretion and CXCL1 expression by human bronchial epithelial cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

TGF-beta-induced EMT: mechanisms and implications for fibrotic lung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Enhanced IL-1beta-induced IL-8 production in cystic fibrosis lung epithelial cells is dependent of both mitogen-activated protein kinases and NF-kappaB signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

A role for MCP-1/CCR2 in interstitial lung disease in children.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Genetic disorders of surfactant homeostasis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

ABCA3 mutations associated with pediatric interstitial lung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

ABCA3 gene mutations in newborns with fatal surfactant deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Response of human pulmonary epithelial cells to lipopolysaccharide involves Toll-like receptor 4 (TLR4)-dependent signaling pathways: evidence for an intracellular compartmentalization of TLR4.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Multiple control of interleukin-8 gene expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Identification and characterization of a novel ABCA3 mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

New surfactant protein C gene mutations associated with diffuse lung disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

ABCA3 is critical for lamellar body biogenesis in vivo.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Expression of ABCA3 in developing lung and other tissues

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

Ultrastructure of lamellar bodies in congenital surfactant deficiency

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263986

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

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22068586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical, radiological and pathological features of ABCA3 mutations in children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22068586

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR508

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068586%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

22068586

1 reference