(Q35446540)

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Surfactant dysfunction

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Surfactant dysfunction (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

W Adam Gower

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Lawrence M Nogee

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

publication date

5 March 2011

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Paediatric Respiratory Reviews

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

223-229

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Characteristics of disorders associated with genetic mutations of surfactant protein C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Genetic disorders of surfactant dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Epithelial endoplasmic reticulum stress and apoptosis in sporadic idiopathic pulmonary fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Population and disease-based prevalence of the common mutations associated with surfactant deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

ABCA3 mutations associated with pediatric interstitial lung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

ABCA3 gene mutations in newborns with fatal surfactant deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Mutations in TITF-1 are associated with benign hereditary chorea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Membrane properties and amyloid fibril formation of lung surfactant protein C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

Thyroid transcription factor-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

ABCA3 is critical for lamellar body biogenesis in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Neonatal respiratory failure associated with mutation in the surfactant protein C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Ultrastructure of lamellar bodies in congenital surfactant deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Hydroxychloroquine and surfactant protein C deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

The epidemiology of respiratory failure in neonates born at an estimated gestational age of 34 weeks or more

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Pneumonitis and emphysema in sp-C gene targeted mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

26 September 2018

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

15 November 2018

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

15 November 2018

Surfactant Composition and Function in Patients with ABCA3 Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3201772

15 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary alveolar proteinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surfactant protein-B-deficient mice are susceptible to hyperoxic lung injury

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, radiological and pathological features of ABCA3 mutations in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usual interstitial pneumonia in an adolescent with ABCA3 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surfactant Protein-B 121ins2 Heterozygosity, Reduced Pulmonary Function, and Chronic Obstructive Pulmonary Disease in Smokers

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22018035

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.PRRV.2011.01.005

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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