Characteristics of disorders associated with genetic mutations of surfactant protein C

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Archives of Disease in Childhood

• Publication date

  2010-04-19

• Fields of study

  Medicine

• Identifiers
  DOI 10.1136/adc.2009.171553PMID 20403820
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection.

  2009cited by this paper
• New surfactant protein C gene mutations associated with diffuse lung disease

  2009cited by this paper
• Familial interstitial disease with I73T mutation: A mid‐ and long‐term study

  2009cited by this paper
• Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C.

  2008influential reference
• Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms.

  2007cited by this paper
• Diffuse lung disease in young children: application of a novel classification scheme.

  2007cited by this paper
• Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

  2006cited by this paper
• Long term effects of azithromycin in patients with cystic fibrosis: a double blind, placebo controlled trial

  2006cited by this paper
• Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C

  2006cited by this paper
• Surfactant protein C: its unique properties and emerging immunomodulatory role in the lung.

  2006cited by this paper
• Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias

  2006cited by this paper
• Pilot study of the reducing effect on amyloidosis in vivo by three FDA pre-approved drugs via the Alzheimer's APP 5' untranslated region.

  2005cited by this paper
• Interstitial lung disease in children – genetic background and associated phenotypes

  2005cited by this paper
• ABCA3 mutations associated with pediatric interstitial lung disease.

  2005cited by this paper
• Genetic disorders of surfactant homeostasis.

  2005cited by this paper
• A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation.

  2005cited by this paper
• A common mutation in the surfactant protein C gene associated with lung disease.

  2005cited by this paper
• Hydroxychloroquine and surfactant protein C deficiency.

  2005cited by this paper
• Alterations in SP-B and SP-C expression in neonatal lung disease.

  2004influential reference
• Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene

  2004cited by this paper
• Respiratory Research BioMed Central Review

  2004cited by this paper
• Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene.

  2004cited by this paper
• Task force on chronic interstitial lung disease in immunocompetent children

  2004cited by this paper
• Macrolide activities beyond their antimicrobial effects: macrolides in diffuse panbronchiolitis and cystic fibrosis.

  2004cited by this paper
• The N-terminal Propeptide of Lung Surfactant Protein C is Necessary for Biosynthesis and Prevents Unfolding of a Metastable α-Helix

  2004cited by this paper
• Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF

  2004cited by this paper
• Proteolytic generation and aggregation of peptides from transmembrane regions: lung surfactant protein C and amyloid β-peptide

  2004cited by this paper
• Surfactant Protein B: Structure and Function

  2004cited by this paper
• The N-terminal propeptide of lung surfactant protein C is necessary for biosynthesis and prevents unfolding of a metastable alpha-helix.

  2004cited by this paper
• Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.

  2002cited by this paper
• MARVEL: a conserved domain involved in membrane apposition events.

  2002cited by this paper
• Idiopathic interstitial pneumonitis in children: A national survey in the United Kingdom and Ireland

  2002cited by this paper
• Surfactant protein deficiency in familial interstitial lung disease.

  2001cited by this paper
• Function of surfactant proteins B and C.

  2001cited by this paper
• A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

  2001cited by this paper
• Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.

  2000cited by this paper
• Inhibition of Cellular Processing of Surfactant Protein C by Drugs Affecting Intracellular pH Gradients*

  1996cited by this paper
• Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice.

  1995cited by this paper
• Aberrant processing of surfactant protein C in hereditary SP-B deficiency.

  1995cited by this paper
• A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

  1994cited by this paper
• [Study of growth from birth to 18 months].

  1977cited by this paper

• Evaluating the Use of iPSC‐Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease

  2025cites this paper
• A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review

  2025cites this paper
• High risk of lung cancer in surfactant-related gene variant carriers

  2024cites this paper
• ERS statement on transition of care in childhood interstitial lung diseases

  2024cites this paper
• Interstitial lung disease in the newborn

  2024influential citation
• Rare genetic interstitial lung diseases: a pictorial essay

  2024cites this paper
• Pulmonary surfactant metabolism dysfunction: A pediatric clinical case report.

  2023cites this paper
• Pneumopathies interstitielles diffuses d’origine génétique

  2023cites this paper
• Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy

  2023cites this paper
• Allogeneic Mesenchymal Stromal Cells as a Global Pediatric Prospective Approach in the Treatment of Respiratory Failure Associated with Surfactant Protein C Dysfunction

  2023cites this paper
• A case report of inherited surfactant protein deficiency: unknown cause of diffuse infiltrative diseases in Tunisia

  2022influential citation
• Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants

  2022cites this paper
• Progressive disease with low survival in adult pulmonary fibrosis patients with surfactant related gene mutations: an observational study.

  2022cites this paper
• Surfactant protein disorders in childhood interstitial lung disease

  2021cites this paper
• Molecular Biomarkers in Idiopathic Pulmonary Fibrosis: State of the Art and Future Directions

  2021cites this paper
• Diffuse Parenchymal Lung Disease in Early Childhood

  2021cites this paper
• Genetic disorders of the surfactant system: focus on adult disease

  2021cites this paper
• Interstitial lung diseases in the neonatal period

  2021cites this paper
• Applications of innovative gene-editing technologies in respiratory diseases

  2021cites this paper
• Surfactant protein C mutation links postnatal type 2 cell dysfunction to adult disease

  2021cites this paper
• Interstitial lung disease in infancy.

  2020cites this paper
• Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults

  2020cites this paper
• Alveolar Dynamics and Beyond – The Importance of Surfactant Protein C and Cholesterol in Lung Homeostasis and Fibrosis

  2020cites this paper
• An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region

  2020influential citation
• Interstitial Lung Disease In First Year Of Life: A Brief Review

  2020cites this paper
• Genetic Disorders of Surfactant Deficiency and Neonatal Lung Disease

  2020cites this paper
• Azithromycin is the answer in paediatric respiratory medicine, but what was the question?

  2020cites this paper
• Pulmonary alveolar proteinosis in children

  2020cites this paper
• Methylprednisolone pulse treatment improves ProSP‐C trafficking in twins with SFTPC mutation: An isoform story?

  2020cites this paper
• Bronchoalveolar Lavage: Cytology

  2020cites this paper
• Pulmonary Fibrosis in Children

  2019cites this paper
• An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.

  2019cites this paper
• Is Progression of Pulmonary Fibrosis Due to Ventilation-Induced Lung Injury?

  2019cites this paper
• A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

  2019cites this paper
• Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations

  2019cites this paper
• The genetics of interstitial lung diseases

  2019cites this paper
• CT features of diffuse lung disease in infancy

  2018cites this paper
• Pediatric Interstitial Lung Disease: an Ongoing Challenge.

  2018cites this paper
• An update on paediatric respiratory diseases

  2018cites this paper
• Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation

  2018cites this paper
• Systematic review of drug effects in humans and models with surfactant-processing disease

  2018cites this paper
• Recurrent diffuse lung disease due to surfactant protein C deficiency

  2018cites this paper
• An Infant with Tachypnea and Failure to Thrive.

  2018cites this paper
• Side effects of medications used to treat childhood interstitial lung disease.

  2018cites this paper
• Respiratory Disorders in the Term Infant

  2018cites this paper
• Runt‐Related Transcription Factor 1 Regulates LPS‐Induced Acute Lung Injury via NF‐&kgr;B Signaling

  2017cites this paper
• 12 – Le surfactant pulmonaire: Bases physiopathologiques et évidences cliniques de son utilisation. Les déficits en surfactant

  2017cites this paper
• Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective

  2017cites this paper
• La enfermedad pulmonar intersticial en el niño. Todavía hoy un reto diagnóstico

  2017cites this paper
• Management of suspected monogenic lung fibrosis in a specialised centre

  2017cites this paper
• Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population

  2017cites this paper
• Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

  2017cites this paper
• Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate

  2016cites this paper
• Current Update on Interstitial Lung Disease of Infancy: New Classification System, Diagnostic Evaluation, Imaging Algorithms, Imaging Findings, and Prognosis.

  2016cites this paper
• Interstitial Lung Disease in Children Younger Than 2 Years

  2016cites this paper
• Effectiveness of palivizumab in children with childhood interstitial lung disease: The French experience

  2016cites this paper
• [Deficiency of surfactant protein: Case report].

  2016cites this paper
• Surfactant proteins in pediatric interstitial lung disease

  2016cites this paper
• Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation

  2015cites this paper
• Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases

  2015cites this paper
• Childhood interstitial lung disease: A systematic review

  2015cites this paper
• MUC5B expression and location in surfactant protein C mutations in children

  2015cites this paper
• European protocols for the diagnosis and initial treatment of interstitial lung disease in children

  2015cites this paper
• Tachypnoea in a well baby: what to do next?

  2015cites this paper
• Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

  2015cites this paper
• Les maladies génétiques du métabolisme du surfactant

  2015cites this paper
• Diffuse lung disease in infants less than 1 year of age: Histopathological diagnoses and clinical outcome

  2015cites this paper
• Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society

  2015cites this paper
• Familial pulmonary fibrosis.

  2015cites this paper
• BAL Fluid Surfactant Protein C Level Is Related to Parenchymal Lung Disease in Children With Sarcoidosis

  2015cites this paper
• Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients

  2015cites this paper
• Hereditary interstitial lung diseases manifesting in early childhood in Japan

  2014cites this paper
• Neonatal Respiratory Insufficiency Caused by an (Homozygous) ABCA3-Stop Mutation: a Systematic Evaluation of Therapeutic Options

  2014cites this paper
• Survival of an infant with homozygous surfactant protein C (SFTPC) mutation

  2014cites this paper
• The Development of the Pulmonary Surfactant System

  2014cites this paper
• Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress

  2014cites this paper
• Natural history of five children with surfactant protein C mutations and interstitial lung disease

  2014cites this paper
• Diffuse Lung Disease

  2014influential citation
• Sarcoidosis in children: HRCT findings and correlation with pulmonary function tests

  2014cites this paper
• Is treatment with hydroxychloroquine effective in surfactant protein C deficiency?

  2013cites this paper
• An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

  2013cites this paper
• Pediatric pulmonary hypertension.

  2013cites this paper
• Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series*

  2013cites this paper
• [Lung diseases in children associated with inherited disorders of surfactant metabolism].

  2013cites this paper
• Genetic testing in children with surfactant dysfunction

  2013cites this paper
• Is Treatment With Hydroxychloroquine Effective in Surfactant Protein C Deficiency

  2013cites this paper
• The Witschi Hypothesis revisited after 35 years: genetic proof from SP-C BRICHOS domain mutations.

  2013cites this paper
• Pathologies héréditaires du surfactant: de la naissance à la retraite

  2013cites this paper
• Pathologies respiratoires de l’enfant associées à des anomalies héréditaires du métabolisme du surfactant

  2013influential citation
• [Genetic disorders of surfactant].

  2012influential citation
• Lung Diseases Associated With Disruption of Pulmonary Surfactant Homeostasis

  2012cites this paper
• An Official ATS Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease (chILD) in Infancy

  2012cites this paper
• ABCA3 transporter deficiency.

  2012cites this paper
• Pulmonary Alveolar Proteinosis

  2012cites this paper
• Corticosteroids in respiratory diseases in children.

  2012cites this paper
• A national internet-linked based database for pediatric interstitial lung diseases: the French network

  2012cites this paper
• BAL fluid surfactant protein C level is related to parenchymal lung disease in children with sarcoidosis.

  2011cites this paper
• Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells

  2011cites this paper
• Surfactant dysfunction.

  2011cites this paper
• Contemporary on Pediatric Diffuse Lung Disease

  2011cites this paper