Citations for
1SFTPC, SMDP2
SFTPC gene mutation p.R167Q in a premature infant.
Jon C, Nolan PK, Ekong M, Mosquera RA, Stark JM.
Pediatr Pulmonol ediatr Pulmonol. 2013 Jun 17. doi: 10.1002/ppul.22825. [Epub ahead of print] 2013
2FILD, SFTPC
SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.
Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R.
Eur J Clin Invest 43(8):791-800. doi: 10.1111/eci.12107. Epub 2013 May 24. 2013
3SFTPB, SFTPC
Hydrophobic pulmonary surfactant proteins SP-B and SP-C induce pore formation in planar lipid membranes: evidence for proteolipid pores.
Parra E, Alcaraz A, Cruz A, Aguilella VM, Pérez-Gil J.
Biophys J 104(1):146-55. doi: 10.1016/j.bpj.2012.11.014. Epub 2013 Jan 8. 2013
4FILD, SFTPC
High-resolution structure of a BRICHOS domain and its implications for anti-amyloid chaperone activity on lung surfactant protein C.
Willander H, Askarieh G, Landreh M, Westermark P, Nordling K, Keränen H, Hermansson E, Hamvas A, Nogee LM, Bergman T, Saenz A, Casals C, Åqvistg J, Jörnvall H, Berglund H, Presto J, Knight SD, Johansson J.
Proc Natl Acad Sci U S A 109(7):2325-9. doi: 10.1073/pnas.1114740109. Epub 2012 Feb 2. 2012
5SFTPC
Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation.
Cottin V, Reix P, Khouatra C, Thivolet-Béjui F, Feldmann D, Cordier JF.
Thorax 66(10):918-9. doi: 10.1136/thx.2010.151407. Epub 2011 Jan 19. No abstract available. 2011
6SFTPC
Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells.
Maguire JA, Mulugeta S, Beers MF.
Am J Respir Cell Mol Biol 44(3):404-14. doi: 10.1165/rcmb.2009-0382OC. Epub 2010 May 12. 2011
7FILD, SFTPC
Familial interstitial pulmonary fibrosis: a large family with atypical clinical features.
Chibbar R, Gjevre JA, Shih F, Neufeld H, Lemire EG, Fladeland DA, Cockcroft DW.
Can Respir J 17(6):269-74. 2010
8SFTPC, SMDP2
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.
Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, Hamvas A.
Pediatr Res 68(3):216-20. doi: 10.1203/00006450-201011001-00421. 2010
9SFTPC, TMEM67, VCP
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.
Wang M, Bridges JP, Na CL, Xu Y, Weaver TE.
J Biol Chem 284(48):33377-83. doi: 10.1074/jbc.M109.034371. Epub 2009 Oct 8. 2009
10DNAJB9, DNAJC10, HSPA5, SFTPC
ERdj4 and ERdj5 are required for endoplasmic reticulum-associated protein degradation of misfolded surfactant protein C.
Dong M, Bridges JP, Apsley K, Xu Y, Weaver TE.
Mol Biol Cell 19(6):2620-30. doi: 10.1091/mbc.E07-07-0674. Epub 2008 Apr 9. 2008
11SFTPC, SMPD2
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M.
Am J Med Genet 126A(1):18-26. 2004
12SFTPC
Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease.
Lahti M, Marttila R, Hallman M.
Eur J Hum Genet 12(4):312-20. 2004
13FILD, SFTPC
A mutation in the surfactant protein C gene associated with familial interstitial lung disease.
Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA.
N Engl J Med 344(8):573-9. No abstract available. 2001
14AFM, FMR1, HMGB1, MYLK, SFTPC, SHBG
Frequent alternative splicing of human genes.
Mironov AA, Fickett JW, Gelfand MS.
Genome Res 9(12):1288-93 1999
15SFTPB, SFTPC
Genetics of the hydrophobic surfactant proteins.
Nogee LM.
Biochim Biophys Acta 1408 : 323-333. 1998
16SFTPC, SMDP2, TSG8A
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.
Wood S, et al.
Genomics 24 : 597-600. 1994
17SFTPC
The gene encoding the hydrophobic surfactant protein SP-C is located on 8p and identifies an EcoRI RFLP.
Fisher JH, Emrie PA, Drabkin HA, Kushnik T, Gerber M, Hofmann T, Jones C.
Am J Hum Genet 43 : 436-441. 1988
18SFTPC
cDNA, deduced polypeptide structure and chromosomal assignment of human pulmonary surfactant proteolipid, SPL(pVal).
Glasser SW, et al.
J Biol Chem 263 : 9-12. 1988
19SFTPC
Two SP-C genes encoding human pulmonary surfactant proteolipid.
Glasser SW, et al.
J Biol Chem 263 : 10326-10331. 1988