SFTPC

Summary

Gene Symbol: SFTPC
Description: surfactant protein C
Alias: BRICD6, PSP-C, SFTP2, SMDP2, SP-C, pulmonary surfactant-associated protein C, BRICHOS domain containing 6, SP5, pulmonary surfactant apoprotein-2 SP-C, pulmonary surfactant-associated proteolipid SPL(Val)
Species: human
Products:     SFTPC

Top Publications

  1. Wambach J, Yang P, Wegner D, An P, Hackett B, Cole F, et al. Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res. 2010;68:216-20 pubmed publisher
    Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC, cause respiratory distress syndrome (RDS) in infants. However, the contribution of variants in noncoding regions of SFTPC to pulmonary phenotypes is unknown...
  2. Nerelius C, Martin E, Peng S, Gustafsson M, Nordling K, Weaver T, et al. Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C. Biochem J. 2008;416:201-9 pubmed publisher
    ..Mutations in the Brichos domain of proSP-C may lead to ILD via loss of CTC chaperone function. ..
  3. Tafel O, Latzin P, Paul K, Winter T, Woischnik M, Griese M. Surfactant proteins SP-B and SP-C and their precursors in bronchoalveolar lavages from children with acute and chronic inflammatory airway disease. BMC Pulm Med. 2008;8:6 pubmed publisher
    ..We conclude that there is no down-regulation of SP-B and SP-C at the protein level in inflammatory processes of neutrophilic airway disease. ..
  4. Thouvenin G, Abou Taam R, Flamein F, Guillot L, Le Bourgeois M, Reix P, et al. Characteristics of disorders associated with genetic mutations of surfactant protein C. Arch Dis Child. 2010;95:449-54 pubmed publisher
    ..modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form...
  5. van Moorsel C, Van Oosterhout M, Barlo N, de Jong P, van der Vis J, Ruven H, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med. 2010;182:1419-25 pubmed publisher
    ..Mutations in the gene encoding surfactant protein C (SFTPC) have been found in children and families with idiopathic pneumonias, whereas cocarriage of a mutation in ATP-..
  6. Nogee L, Dunbar A, Wert S, Askin F, Hamvas A, Whitsett J. Mutations in the surfactant protein C gene associated with interstitial lung disease. Chest. 2002;121:20S-21S pubmed
  7. Wood S, Yaremko M, Schertzer M, Kelemen P, Minna J, Westbrook C. Mapping of the pulmonary surfactant SP5 (SFTP2) locus to 8p21 and characterization of a microsatellite repeat marker that shows frequent loss of heterozygosity in human carcinomas. Genomics. 1994;24:597-600 pubmed
    We have identified 4 cosmids at the SFTP2 locus by cDNA hybridization. SFTP2 was mapped using a polymorphic CA repeat and localized to 8p21 by FISH. Allele loss in carcinomas was detected using this PCR marker...
  8. Nogee L, Dunbar A, Wert S, Askin F, Hamvas A, Whitsett J. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med. 2001;344:573-9 pubmed
  9. Bridges J, Wert S, Nogee L, Weaver T. Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice. J Biol Chem. 2003;278:52739-46 pubmed
    ..Mutations in the gene encoding SP-C (SFTPC) have recently been linked to chronic lung disease in children and adults...

More Information

Publications140 found, 100 shown here

  1. Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J. 2004;24:30-9 pubmed
    Mutations in the surfactant protein C gene (SFTPC) were recently reported in patients with interstitial lung disease...
  2. Mulugeta S, Nguyen V, Russo S, Muniswamy M, Beers M. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol. 2005;32:521-30 pubmed
  3. Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, et al. Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res. 2005;6:80 pubmed
  4. Mulugeta S, Maguire J, Newitt J, Russo S, Kotorashvili A, Beers M. Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms. Am J Physiol Lung Cell Mol Physiol. 2007;293:L720-9 pubmed
    ..These results suggest common cellular responses, including initiation of cell-death signaling pathways, to these lung disease-associated BRISPC proteins. ..
  5. Lawson W, Crossno P, Polosukhin V, Roldan J, Cheng D, Lane K, et al. Endoplasmic reticulum stress in alveolar epithelial cells is prominent in IPF: association with altered surfactant protein processing and herpesvirus infection. Am J Physiol Lung Cell Mol Physiol. 2008;294:L1119-26 pubmed publisher
    ..Based on the hypothesis that disease-causing mutations in surfactant protein C (SFTPC) provide an important paradigm for studying IPF, we investigated a potential mechanism of AEC dysfunction ..
  6. Glasser S, Korfhagen T, Perme C, Pilot Matias T, Kister S, Whitsett J. Two SP-C genes encoding human pulmonary surfactant proteolipid. J Biol Chem. 1988;263:10326-31 pubmed
    ..Two distinct classes of human SP-C genes are transcribed, and the heterogeneity in the SP-C RNAs appears to result from differential splicing. ..
  7. Thomas A, Lane K, Phillips J, Prince M, Markin C, Speer M, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med. 2002;165:1322-8 pubmed
    ..Mutations in the surfactant protein C (SP-C) gene (SFTPC) are associated with familial desquamative and nonspecific interstitial pneumonitis...
  8. Brasch F, ten Brinke A, Johnen G, Ochs M, Kapp N, Müller K, et al. Involvement of cathepsin H in the processing of the hydrophobic surfactant-associated protein C in type II pneumocytes. Am J Respir Cell Mol Biol. 2002;26:659-70 pubmed
  9. Li J, Ikegami M, Na C, Hamvas A, Espinassous Q, Chaby R, et al. N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding. Biochemistry. 2004;43:3891-8 pubmed
    ..The results of this study indicate that the early postnatal fatal respiratory distress seen in SP-B-deficient children is combined with the near absence of active variants of SP-C. ..
  10. Chibbar R, Shih F, Baga M, Torlakovic E, Ramlall K, Skomro R, et al. Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis. Mod Pathol. 2004;17:973-80 pubmed
    ..These observations suggest that individuals with this particular mutation in surfactant protein C gene might be at increased risk of interstitial lung disease of variety of types. ..
  11. Rosen D, Waltz D. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med. 2005;352:207-8 pubmed
  12. Wang W, Russo S, Mulugeta S, Beers M. Biosynthesis of surfactant protein C (SP-C). Sorting of SP-C proprotein involves homomeric association via a signal anchor domain. J Biol Chem. 2002;277:19929-37 pubmed
    ..We speculate that heterotypic oligomerization of wild type with SP-C folding mutants produces a dominant negative thus contributing to the pathology of chronic lung disease associated with patients heterozygous for mutant SP-C alleles. ..
  13. Zhong Q, Zhou B, Ann D, Minoo P, Liu Y, Banfalvi A, et al. Role of endoplasmic reticulum stress in epithelial-mesenchymal transition of alveolar epithelial cells: effects of misfolded surfactant protein. Am J Respir Cell Mol Biol. 2011;45:498-509 pubmed publisher
    ..These results demonstrate that ER stress induces EMT in AECs, at least in part through Src-dependent pathways, suggesting a novel role for ER stress in fibroblast accumulation in pulmonary fibrosis. ..
  14. Attarian S, Leibel S, Yang P, Alfano D, Hackett B, Cole F, et al. Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. Pediatr Res. 2018;84:419-425 pubmed publisher
    ..activity, cotransfection of luciferase reporter vectors containing surfactant protein B or C (SFTPB or SFTPC) promoters with NKX2-1 plasmids was performed and luciferase activity was measured...
  15. Shrestha A, Carraro G, Nottet N, Vazquez Armendariz A, Herold S, Cordero J, et al. A critical role for miR-142 in alveolar epithelial lineage formation in mouse lung development. Cell Mol Life Sci. 2019;: pubmed publisher
    ..pathway in an in vitro alveolar epithelial lineage differentiation assay led to increased AT2 marker Sftpc and decreased miR-142 expression...
  16. Johansson J, Jornvall H, Eklund A, Christensen N, Robertson B, Curstedt T. Hydrophobic 3.7 kDa surfactant polypeptide: structural characterization of the human and bovine forms. FEBS Lett. 1988;232:61-4 pubmed
    ..Comparison of the porcine, human and bovine polypeptides reveals a conserved hydrophobic middle/C-terminal segment and a variable hydrophilic N-terminal part. ..
  17. Casals C, Johansson H, Saenz A, Gustafsson M, Alfonso C, Nordling K, et al. C-terminal, endoplasmic reticulum-lumenal domain of prosurfactant protein C - structural features and membrane interactions. FEBS J. 2008;275:536-47 pubmed publisher
    ..The exposed hydrophobic surfaces and the structural disordering that result from interactions with phospholipid membranes suggest a mechanism whereby CTC binds to misfolded SP-C in the endoplasmic reticulum membrane. ..
  18. Xu X, Rock J, Lu Y, Futtner C, Schwab B, Guinney J, et al. Evidence for type II cells as cells of origin of K-Ras-induced distal lung adenocarcinoma. Proc Natl Acad Sci U S A. 2012;109:4910-5 pubmed publisher
    ..we use two "knock-in" Cre-estrogen receptor alleles to inducibly express K-RasG12D in CC10(+) epithelial cells and Sftpc(+) type II alveolar cells of the adult mouse lung...
  19. Rucka Z, Vanhara P, Koutna I, Tesarova L, Potěšilová M, Stejskal S, et al. Differential effects of insulin and dexamethasone on pulmonary surfactant-associated genes and proteins in A549 and H441 cells and lung tissue. Int J Mol Med. 2013;32:211-8 pubmed publisher
    ..and mRNA transcription of 4 pulmonary surfactant-associated proteins [surfactant protein (SFTP)A, SFTPB, SFTPC and SFTPD] were examined...
  20. Hancock L, Hennessy C, Solomon G, Dobrinskikh E, Estrella A, Hara N, et al. Muc5b overexpression causes mucociliary dysfunction and enhances lung fibrosis in mice. Nat Commun. 2018;9:5363 pubmed publisher
    ..that MUC5B, a mucin thought to be restricted to conducting airways, is co-expressed with surfactant protein C (SFTPC) in type 2 alveolar epithelia and in epithelial cells lining honeycomb cysts, indicating that cell types involved ..
  21. Lindskog C, Fagerberg L, Hallström B, Edlund K, Hellwig B, Rahnenführer J, et al. The lung-specific proteome defined by integration of transcriptomics and antibody-based profiling. FASEB J. 2014;28:5184-96 pubmed publisher
    ..Transcript levels of 10 genes (SFTPB, SFTPC, SFTPD, SLC34A2, LAMP3, CACNA2D2, AGER, EMP2, NKX2-1, and NAPSA) were significantly associated with survival in ..
  22. McCall M, Illei P, Halushka M. Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome. Am J Hum Genet. 2016;99:624-635 pubmed publisher
    ..One large cluster included surfactant genes (SFTPA1, SFTPA2, and SFTPC), which are expressed exclusively in type II pneumocytes, cells that proliferate in ventilator associated lung ..
  23. Zhou B, Zhong Q, Minoo P, Li C, Ann D, Frenkel B, et al. Foxp2 inhibits Nkx2.1-mediated transcription of SP-C via interactions with the Nkx2.1 homeodomain. Am J Respir Cell Mol Biol. 2008;38:750-8 pubmed publisher
    ..1 inhibits Nkx2.1 DNA-binding and transcriptional activity and suggest a mechanism for down-regulation of SP-C (and probably other AT2 cell genes) during transition of AT2 cells to an AT1 cell phenotype. ..
  24. Chen H, Matsumoto K, Brockway B, Rackley C, Liang J, Lee J, et al. Airway epithelial progenitors are region specific and show differential responses to bleomycin-induced lung injury. Stem Cells. 2012;30:1948-60 pubmed publisher
    ..We used surface markers and the spatial expression pattern of an SFTPC-GFP transgene to subset epithelial progenitors by airway region...
  25. Ustiyan V, Zhang Y, Perl A, Whitsett J, Kalin T, Kalinichenko V. β-catenin and Kras/Foxm1 signaling pathway are critical to restrict Sox9 in basal cells during pulmonary branching morphogenesis. Dev Dyn. 2016;245:590-604 pubmed publisher
    ..To identify signaling pathways that determine proximal-peripheral cell fate decisions, we used the SFTPC gene promoter to delete or overexpress key members of Wnt/β-catenin and Kras/ERK/Foxm1 pathways in fetal ..
  26. Schicht M, Knipping S, Hirt R, Beileke S, Sel S, Paulsen F, et al. Detection of surfactant proteins A, B, C, and D in human nasal mucosa and their regulation in chronic rhinosinusitis with polyps. Am J Rhinol Allergy. 2013;27:24-9 pubmed publisher
    ..Based on these results, SPs appear to have an important function in immunologic and rheological process of the nasal mucosa and support the prospective therapeutic use of liposomal nasal sprays. ..
  27. Juge P, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau Stervinou L, et al. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Eur Respir J. 2017;49: pubmed publisher
    ..9%) had 13 WES-identified heterozygous mutations in the TERT, RTEL1, PARN or SFTPC coding regions...
  28. Seiji Y, Ito T, Nakamura Y, Nakaishi Fukuchi Y, Matsuo A, Sato N, et al. Alveolus-like organoid from isolated tip epithelium of embryonic mouse lung. Hum Cell. 2019;32:103-113 pubmed publisher
    ..that the squamous epithelial cells were positive for HopX, and the cuboidal epithelial cells were positive for pro-SftpC. Furthermore, transmission electron microscopic observation confirmed that the squamous epithelial cells were ..
  29. Lin S, Perl A, Shannon J. Erm/thyroid transcription factor 1 interactions modulate surfactant protein C transcription. J Biol Chem. 2006;281:16716-26 pubmed
    ..Taken together, these results demonstrate that Erm is involved in SP-C regulation, which results from an interaction with TTF-1. ..
  30. Evans C, Fingerlin T, Schwarz M, Lynch D, Kurche J, Warg L, et al. Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways. Physiol Rev. 2016;96:1567-91 pubmed publisher
    ..complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci...
  31. Snetselaar R, van Moorsel C, Kazemier K, van der Vis J, Zanen P, Van Oosterhout M, et al. Telomere length in interstitial lung diseases. Chest. 2015;148:1011-1018 pubmed publisher
    ..The FIP cohort was divided into patients carrying TERT mutations, patients carrying SFTPA2 or SFTPC mutations, and patients without a proven mutation (FIP-no mutation)...
  32. Peker I, Peker E, Basman A, Akca G, Odabas M, Haciosmanoglu N, et al. A pilot study of the effects of a vacuum sealing barrier method for photostimulable phosphor plates regarding plate damage and prevention of microbiologic cross-contamination. Oral Surg Oral Med Oral Pathol Oral Radiol. 2018;126:283-290 pubmed publisher
    ..No colonization of microorganisms was detected on the vacuum sealed PSP plates. The new vacuum-sealing method may be useful in preventing cross-contamination of PSP plates during radiographic procedures. ..
  33. Johansson H, Nordling K, Weaver T, Johansson J. The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment. J Biol Chem. 2006;281:21032-9 pubmed
    ..These findings suggest that CTproSP-C binds nonhelical SP-C and thereby prevents beta-sheet aggregation and that mutations in CTproSP-C can interfere with this function. ..
  34. Glasser S, Burhans M, Korfhagen T, Na C, Sly P, Ross G, et al. Altered stability of pulmonary surfactant in SP-C-deficient mice. Proc Natl Acad Sci U S A. 2001;98:6366-71 pubmed
  35. Gotoh S, Ito I, Nagasaki T, Yamamoto Y, Konishi S, Korogi Y, et al. Generation of alveolar epithelial spheroids via isolated progenitor cells from human pluripotent stem cells. Stem Cell Reports. 2014;3:394-403 pubmed publisher
    ..Using SFTPC-GFP reporter hPSCs and a 3D coculture system with fetal human lung fibroblasts, we showed that CPM(+) cells ..
  36. Imielinski M, Guo G, Meyerson M. Insertions and Deletions Target Lineage-Defining Genes in Human Cancers. Cell. 2017;168:460-472.e14 pubmed publisher
    ..somatic mutational hotspots near VMP1/MIR21 and indel hotspots in surfactant protein genes (SFTPA1, SFTPB, and SFTPC)...
  37. Yamamoto Y, Gotoh S, Korogi Y, Seki M, Konishi S, Ikeo S, et al. Long-term expansion of alveolar stem cells derived from human iPS cells in organoids. Nat Methods. 2017;14:1097-1106 pubmed publisher
    ..Here we report a method for the efficient generation and long-term expansion of alveolar organoids (AOs) harboring SFTPC+ alveolar stem cells derived from human induced pluripotent stem cells (hiPSCs)...
  38. Zou W, Ding F, Niu C, Fu Z, Liu S. Brg1 aggravates airway inflammation in asthma via inhibition of the PI3K/Akt/mTOR pathway. Biochem Biophys Res Commun. 2018;503:3212-3218 pubmed publisher
    ..The Brgfl/fl mice were crossbred with the SFTPC-Cre mice to generate bronchial epithelial cell specific Brg1 knockout mice, and LY294002 was used to inhibit PI3K...
  39. Luy B, Diener A, Hummel R, Sturm E, Ulrich W, Griesinger C. Structure and potential C-terminal dimerization of a recombinant mutant of surfactant-associated protein C in chloroform/methanol. Eur J Biochem. 2004;271:2076-85 pubmed
    ..Dimerization at the heptapeptide segment would be consistent with findings based on electrospray ionization MS data, chemical cross-linking studies, and CNBr cleavage data. ..
  40. Johansson H, Nerelius C, Nordling K, Johansson J. Preventing amyloid formation by catching unfolded transmembrane segments. J Mol Biol. 2009;389:227-9 pubmed publisher
    ..These findings indicate that CTC is the first known chaperone to be directed towards nonhelical transmembrane segments and that it may be employed for the development of new diagnostics or anti-amyloid therapies. ..
  41. Eldridge W, Zhang Q, Faro A, Sweet S, Eghtesady P, Hamvas A, et al. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr. 2017;184:157-164.e2 pubmed publisher
    ..of infants and children who underwent lung transplantation for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 epochs (1993-2003 and 2004-2015) at St Louis Children's Hospital...
  42. Carrera P, Ferrari M, Presi S, Ventura L, Vergani B, Lucchini V, et al. Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings. Pediatr Pulmonol. 2014;49:E116-20 pubmed publisher
    ..records of the siblings were examined; the genes encoding surfactant protein B (SFTPB), surfactant protein C (SFTPC), and ATP-binding cassette transporter 3 protein (ABCA3) were analyzed with direct sequencing and Southern ..
  43. Chung M, Hogan B. Ager-CreERT2: A New Genetic Tool for Studying Lung Alveolar Development, Homeostasis, and Repair. Am J Respir Cell Mol Biol. 2018;: pubmed publisher
    ..in which about 50% of the AT1s are killed survive the loss; repair is associated with increased proliferation of Sftpc+ AT2s and the upregulation of Ager expression...
  44. Lawson W, Grant S, Ambrosini V, Womble K, Dawson E, Lane K, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax. 2004;59:977-80 pubmed
    ..Recent reports have linked genetic mutations in surfactant protein C (SFTPC) with familial forms of pulmonary fibrosis, including one large family in which a number of family members were ..
  45. Wert S, Whitsett J, Nogee L. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12:253-74 pubmed publisher
    ..gene SFTPB are associated with fatal respiratory distress in the neonatal period, and mutations in the SP-C gene SFTPC are more commonly associated with interstitial lung disease in older infants, children, and adults...
  46. Liptzin D, Watson A, Murphy E, Kroehl M, Dishop M, Galambos C, et al. MUC5B expression and location in surfactant protein C mutations in children. Pediatr Pulmonol. 2015;50:1270-6 pubmed publisher
    Mutations in Surfactant Protein C (SFTPC) can lead to fibrotic interstitial lung disease (ILD) with variable phenotypes, especially in children. The sources of phenotype variability are incompletely understood...
  47. Flodby P, Liebler J, Sunohara M, Castillo D, McConnell A, Krishnaveni M, et al. Region-specific role for Pten in maintenance of epithelial phenotype and integrity. Am J Physiol Lung Cell Mol Physiol. 2017;312:L131-L142 pubmed publisher
    ..following bleomycin injury, a model typically used to study distal lung epithelial injury, in conditional PtenSFTPC-cre knockout mice...
  48. Klay D, Hoffman T, Harmsze A, Grutters J, van Moorsel C. Systematic review of drug effects in humans and models with surfactant-processing disease. Eur Respir Rev. 2018;27: pubmed publisher
    ..Patients with mutations in surfactant-processing genes, such as surfactant protein C (SFTPC), surfactant protein A1 and A2 (SFTPA1 and A2), ATP binding cassette A3 (ABCA3) and ..
  49. Knight S, Presto J, Linse S, Johansson J. The BRICHOS domain, amyloid fibril formation, and their relationship. Biochemistry. 2013;52:7523-31 pubmed publisher
    ..These observations make the BRICHOS domain the first example of a chaperone-like domain with specificity for ?-prone regions. ..
  50. Piñeiro Hermida S, López I, Alfaro Arnedo E, Torrens R, Iñiguez M, Alvarez Erviti L, et al. IGF1R deficiency attenuates acute inflammatory response in a bleomycin-induced lung injury mouse model. Sci Rep. 2017;7:4290 pubmed publisher
    ..Additionally, increased SFTPC expression together with hindered HIF1A expression and augmented levels of Gpx8 indicate that IGF1R deficiency ..
  51. Yang M, Guo Y, Liu C, Weissler J, Yang Y. The TTF-1/TAP26 complex differentially modulates surfactant protein-B (SP-B) and -C (SP-C) promoters in lung cells. Biochem Biophys Res Commun. 2006;344:484-90 pubmed
    ..Thus, a dimerized complex structure was needed for advanced promoter activity. This result also provided a molecular mechanism by which both the SP-B and SP-C promoters could be differentially regulated by the same complex. ..
  52. Warr R, Hawgood S, Buckley D, Crisp T, Schilling J, Benson B, et al. Low molecular weight human pulmonary surfactant protein (SP5): isolation, characterization, and cDNA and amino acid sequences. Proc Natl Acad Sci U S A. 1987;84:7915-9 pubmed
    ..We have purified a hydrophobic surfactant protein of approximately 5 kDa that we term SP5 from bronchopulmonary lavage fluid from a patient with alveolar proteinosis and shown that it promotes rapid ..
  53. Tsvetkova O, Veselovskaia M. [Polymorphic variants of a surfactant protein C gene in patients with chronic obstructive pulmonary disease]. Ter Arkh. 2007;79:65-9 pubmed
    To investigate effects of polymorphic variants of surfactant protein C gene (SFTPC) on the course of the disease in patients with chronic obstructive pulmonary disease (COPD). Sixty COPD patients were examined with COPD of stage 0-IV...
  54. Mehta A, Dobersch S, Dammann R, Bellusci S, Ilinskaya O, Braun T, et al. Validation of Tuba1a as appropriate internal control for normalization of gene expression analysis during mouse lung development. Int J Mol Sci. 2015;16:4492-511 pubmed publisher
    ..Expression analysis of two lung specific markers, surfactant protein C (SftpC) and Clara cell-specific 10 kDA protein (Scgb1a1), normalized to each of the five reference genes tested here, ..
  55. Ma N, Gai H, Mei J, Ding F, Bao C, Nguyen D, et al. Bone marrow mesenchymal stem cells can differentiate into type II alveolar epithelial cells in vitro. Cell Biol Int. 2011;35:1261-6 pubmed publisher
    ..43-4.21%. Our study further showed that the SPC gene expression level in differentiated cells was related to the ratio of BMSCs to MRC-5 cells and the components of modified SAGM...
  56. Johansson J, Curstedt T, Robertson B. Artificial surfactants based on analogues of SP-B and SP-C. Pediatr Pathol Mol Med. 2001;20:501-18 pubmed
  57. Thal D, von Arnim C, Griffin W, Mrak R, Walker L, Attems J, et al. Frontotemporal lobar degeneration FTLD-tau: preclinical lesions, vascular, and Alzheimer-related co-pathologies. J Neural Transm (Vienna). 2015;122:1007-18 pubmed publisher
    ..As such, our results indicate that age, together with vascular and AD-related copathology, contributes to the morphological appearance of FTLD-tau. ..
  58. Drysdale S, Alcazar M, Wilson T, Smith M, Zuckerman M, Hodemaekers H, et al. Functional and genetic predisposition to rhinovirus lower respiratory tract infections in prematurely born infants. Eur J Pediatr. 2016;175:1943-1949 pubmed
    ..DNA samples assessed for eight single nucleotide polymorphisms (SNPs) in seven genes: ADAM33, IL10, MMP16 NF?B1A,SFTPC, VDR, and NOS2A. Infants were prospectively followed until 1 year corrected age...
  59. Kim S, Cheresh P, Jablonski R, Morales Nebreda L, Cheng Y, Hogan E, et al. Mitochondrial catalase overexpressed transgenic mice are protected against lung fibrosis in part via preventing alveolar epithelial cell mitochondrial DNA damage. Free Radic Biol Med. 2016;101:482-490 pubmed publisher
    ..AEC apoptosis was assessed by cleaved caspase-3 (CC-3)/Surfactant protein C (SFTPC) immunohistochemistry (IHC) and semi-quantitative analysis...
  60. Chibbar R, Gjevre J, Shih F, Neufeld H, Lemire E, Fladeland D, et al. Familial interstitial pulmonary fibrosis: a large family with atypical clinical features. Can Respir J. 2010;17:269-74 pubmed
    ..Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATPbinding cassette protein A3 and telomerase, and found no abnormalities. ..
  61. Nerelius C, Gustafsson M, Nordling K, Larsson A, Johansson J. Anti-amyloid activity of the C-terminal domain of proSP-C against amyloid beta-peptide and medin. Biochemistry. 2009;48:3778-86 pubmed publisher
  62. Hamvas A. Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J (Engl). 2010;123:2943-7 pubmed
    ..outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1).
  63. Kröner C, Reu S, Teusch V, Schams A, Grimmelt A, Barker M, et al. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J. 2015;46:197-206 pubmed publisher
    Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised...
  64. JACOB A, Morley M, Hawkins F, McCauley K, Jean J, Heins H, et al. Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells. Cell Stem Cell. 2017;21:472-488.e10 pubmed publisher
    ..Using multicolored fluorescent reporter lines, we track and purify human SFTPC+ alveolar progenitors as they emerge from endodermal precursors in response to stimulation of Wnt and FGF ..
  65. Prasad A, Sdano M, Vanzo R, Mowery Rushton P, Serrano M, Hensel C, et al. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. BMC Med Genet. 2018;19:46 pubmed publisher
    ..variants with X-linked inheritance revealed pathogenic or likely pathogenic variants in PNPLA4, CADM1, HBB, SOS1, SFTPC, OTC and ASMT in 15.1% (8/53) of cases...
  66. Clark H, Clark L. The genetics of neonatal respiratory disease. Semin Fetal Neonatal Med. 2005;10:271-82 pubmed
    ..The evidence that known variability in the expression of surfactant protein genes may contribute to the risk of development of neonatal chronic lung disease or bronchopulmonary dysplasia is examined...
  67. Li X, Fang Y, Li X, Liang J, Jiang D, Geng Y, et al. Apical Secretion of FSTL1 in the Respiratory Epithelium for Normal Lung Development. PLoS ONE. 2016;11:e0158385 pubmed publisher
    ..To further explore the role of FSTL1 in mouse lung development, we created a transgene SFTPC-Fstl1 allele mouse displaying significant epithelial overexpression of Fstl1 in all stages of lung development...
  68. Puthothu B, Krueger M, Heinze J, Forster J, Heinzmann A. Haplotypes of surfactant protein C are associated with common paediatric lung diseases. Pediatr Allergy Immunol. 2006;17:572-7 pubmed
    ..The results of our study might suggest opposing roles of surfactant Protein C in the genetic predisposition for respiratory syncytial virus associated diseases vs. asthma. The causal mechanism for this observation has still to be shown. ..
  69. Yan W, Zhu X, Wang J, Huang Y, He B. [Clinical and genetic study on familial idiopathic pulmonary fibrosis in a Chinese family]. Zhonghua Jie He He Hu Xi Za Zhi. 2015;38:833-8 pubmed
    ..Genetic test for TERT, TERC and SFTPC in peripheral blood and autopsy were performed for II-4 but all were negative...
  70. Litao M, Hayes D, Chiwane S, Nogee L, Kurland G, Guglani L. A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy. Pediatr Pulmonol. 2017;52:57-68 pubmed publisher
    Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c...
  71. Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, et al. Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred. Eur Respir J. 2011;38:861-9 pubmed publisher
    Several mutations in the surfactant protein C (SP-C) gene (SFTPC) have been reported as causing familial pulmonary fibrosis (FPF). However, the genetic background and clinical features of FPF are still not fully understood...
  72. Peca D, Boldrini R, Johannson J, Shieh J, Citti A, Petrini S, et al. Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. Eur J Hum Genet. 2015;23:1033-41 pubmed publisher
    ..We sequenced SFTPC - the gene encoding SP-C - SFTPB and ABCA3, and analyzed morphology, ultrastructure and SP expression in lung ..
  73. Mutze K, Vierkotten S, Milosevic J, Eickelberg O, Königshoff M. Enolase 1 (ENO1) and protein disulfide-isomerase associated 3 (PDIA3) regulate Wnt/β-catenin-driven trans-differentiation of murine alveolar epithelial cells. Dis Model Mech. 2015;8:877-90 pubmed publisher
    ..We observed reduced CBR2 significantly correlating with surfactant protein C (SFTPC), whereas ENO1 and PDIA3 along with T1α were increased in injured ATII cells...
  74. Somaschini M, Presi S, Ferrari M, Vergani B, Carrera P. Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome. J Perinatol. 2018;38:337-344 pubmed publisher
    ..infants with gestational age ?32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3...
  75. Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, et al. Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am J Hum Genet. 2018;102:480-486 pubmed publisher
    ..by infantile-onset PAP with hypogammaglobulinemia without causative mutations in genes associated with PAP: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB, and GATA2...
  76. Curstedt T, Johansson J, Persson P, Eklund A, Robertson B, Löwenadler B, et al. Hydrophobic surfactant-associated polypeptides: SP-C is a lipopeptide with two palmitoylated cysteine residues, whereas SP-B lacks covalently linked fatty acyl groups. Proc Natl Acad Sci U S A. 1990;87:2985-9 pubmed
    ..Long-chain acylation may constitute a means for association of proteins with membranes and could conceivably modulate the stability and biological activity of surfactant films. ..
  77. Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, et al. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet. 2009;46:490-4 pubmed publisher
    Mutations in the surfactant protein C gene (SFTPC) have been recently associated with the development of diffuse lung disease, particularly sporadic and familial interstitial lung disease (ILD)...
  78. Johansson H, Eriksson M, Nordling K, Presto J, Johansson J. The Brichos domain of prosurfactant protein C can hold and fold a transmembrane segment. Protein Sci. 2009;18:1175-82 pubmed publisher
    ..These data indicate that the Brichos domain of proSP-C is a chaperone that induces alpha-helix formation of an aggregation-prone TM region. ..
  79. Sáenz A, Presto J, Lara P, Akinyi Oloo L, García Fojeda B, Nilsson I, et al. Folding and Intramembraneous BRICHOS Binding of the Prosurfactant Protein C Transmembrane Segment. J Biol Chem. 2015;290:17628-41 pubmed publisher
    ..These findings support a chaperone function of the BRICHOS domain, possibly together with the linker region, during pro-SP-C biosynthesis in the ER. ..
  80. ten Brinke A, Vaandrager A, Haagsman H, Ridder A, van Golde L, Batenburg J. Structural requirements for palmitoylation of surfactant protein C precursor. Biochem J. 2002;361:663-71 pubmed
    ..This may also be the case for the palmitoylation of other transmembrane proteins. ..
  81. Bullard J, Nogee L. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007;62:176-9 pubmed
    Heterozygous SFTPC mutations have been associated with adult and pediatric interstitial lung disease (pILD). Inheritance is autosomal dominant, but de novo mutations may cause sporadic disease...
  82. Biverstål H, Dolfe L, Hermansson E, Leppert A, Reifenrath M, Winblad B, et al. Dissociation of a BRICHOS trimer into monomers leads to increased inhibitory effect on Aβ42 fibril formation. Biochim Biophys Acta. 2015;1854:835-43 pubmed publisher
    ..These results indicate that modulation of the accessibility of the substrate-binding site is a means to regulate BRICHOS activity. ..
  83. Salerno T, Peca D, Menchini L, Schiavino A, Boldrini R, Esposito F, et al. Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation. Ital J Pediatr. 2016;42:23 pubmed publisher
    Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported...
  84. Garmany T, Wambach J, Heins H, Watkins Torry J, Wegner D, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63:645-9 pubmed publisher
    ..E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS...
  85. Jiramethee N, Erasmus D, Nogee L, Khoor A. Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation. Case Rep Pulmonol. 2017;2017:9541419 pubmed publisher
    ..Surfactant protein C (SFTPC) gene mutations are rare, but well-known cause of familial ILD...
  86. Perez Gil J. Lipid-protein interactions of hydrophobic proteins SP-B and SP-C in lung surfactant assembly and dynamics. Pediatr Pathol Mol Med. 2001;20:445-69 pubmed
    ..Some considerations are given to possible concerted actions, under physiological conditions, of both proteins SP-B and SP-C. ..
  87. DONOHUE W, Laski B, Uchida I, MUNN J. Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. Pediatrics. 1959;24:786-813 pubmed
  88. Bridges J, Xu Y, Na C, Wong H, Weaver T. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol. 2006;172:395-407 pubmed
    Mutations in the gene encoding SP-C (surfactant protein C; SFTPC) have been linked to interstitial lung disease (ILD) in children and adults...
  89. Kotorashvili A, Russo S, Mulugeta S, Guttentag S, Beers M. Anterograde transport of surfactant protein C proprotein to distal processing compartments requires PPDY-mediated association with Nedd4 ubiquitin ligases. J Biol Chem. 2009;284:16667-78 pubmed publisher
    ..We speculate that the Nedd4/proSP-C tandem is part of a larger protein complex containing a ubiquitinated component that further directs its transport. ..
  90. Wang M, Bridges J, Na C, Xu Y, Weaver T. Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. J Biol Chem. 2009;284:33377-83 pubmed publisher
    Autosomal dominant mutations in the SFTPC gene are associated with idiopathic pulmonary fibrosis, a progressive lethal interstitial lung disease...
  91. Delestrain C, Simon S, Aissat A, Médina R, Decrouy X, Nattes E, et al. Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype. Eur J Hum Genet. 2017;25:779-782 pubmed publisher
    Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c...