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Items: 1 to 20 of 190

2.

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 A. 2004 Apr 1;126A(1):18-26.

PMID:
15039969
3.

New surfactant protein C gene mutations associated with diffuse lung disease.

Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D.

J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13. Erratum in: J Med Genet. 2010 Jul;47(7):485.

4.

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

van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC.

Am J Respir Crit Care Med. 2010 Dec 1;182(11):1419-25. doi: 10.1164/rccm.200906-0953OC. Epub 2010 Jul 23.

PMID:
20656946
5.

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.

Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, Worrell JA, Stahlman MT, Phillips JA 3rd, Loyd JE, Cogan JD, Lawson WE.

Chest. 2010 Apr;137(4):969-73. doi: 10.1378/chest.09-0790.

6.

Genetics of pediatric interstitial lung disease.

Nogee LM.

Curr Opin Pediatr. 2006 Jun;18(3):287-92. Review.

PMID:
16721150
7.

Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.

Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O.

Ultrastruct Pathol. 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454.

PMID:
24047351
8.

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC].

Somaschini M, Cavazza A, Riva S, Sassi I, Carrera P.

Pediatr Med Chir. 2005 May-Aug;27(3-4):103-7. Italian.

PMID:
16910460
9.

ABCA3 mutations associated with pediatric interstitial lung disease.

Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM.

Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23.

10.

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.

Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM.

Acta Paediatr. 2007 Feb;96(2):185-90.

PMID:
17429902
11.

A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy.

Hawkins A, Guttentag SH, Deterding R, Funkhouser WK, Goralski JL, Chatterjee S, Mulugeta S, Beers MF.

Am J Physiol Lung Cell Mol Physiol. 2015 Jan 1;308(1):L33-47. doi: 10.1152/ajplung.00217.2014. Epub 2014 Oct 24.

12.

Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation.

Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Bührer C.

Mod Pathol. 2007 Oct;20(10):1009-18. Epub 2007 Jul 27.

13.

[Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].

Xie N, Chen DH, Lin YN, Wu SZ, Gu YY, Zeng QS, Zhai YY, Yang LY, Xu JX.

Zhonghua Er Ke Za Zhi. 2016 Oct 2;54(10):761-766. doi: 10.3760/cma.j.issn.0578-1310.2016.10.010. Chinese.

PMID:
27784479
14.

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.

N Engl J Med. 2004 Mar 25;350(13):1296-303.

15.

Two novel mutations in surfactant protein-C, lung function and obstructive lung disease.

Baekvad-Hansen M, Nordestgaard BG, Tybjaerg-Hansen A, Dahl M.

Respir Med. 2010 Mar;104(3):418-25. doi: 10.1016/j.rmed.2009.10.012. Epub 2009 Nov 11.

16.

Clinical, radiological and pathological features of ABCA3 mutations in children.

Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL.

Thorax. 2008 Apr;63(4):366-73. Epub 2007 Nov 16.

PMID:
18024538
17.

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM.

Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.

18.

Evaluation and management of inherited disorders of surfactant metabolism.

Hamvas A.

Chin Med J (Engl). 2010 Oct;123(20):2943-7. Review.

PMID:
21034611
19.

ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.

Härtel C, Felderhoff-Müser U, Gebauer C, Hoehn T, Kribs A, Laux R, Möller J, Segerer H, Teig N, von der Wense A, Wieg C, Stichtenoth G, Herting E, Göpel W; German Neonatal Network (GNN).

Acta Paediatr. 2012 Apr;101(4):380-3. doi: 10.1111/j.1651-2227.2011.02553.x. Epub 2012 Jan 9.

PMID:
22145626
20.

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Bækvad-Hansen M, Nordestgaard BG, Dahl M.

Respir Res. 2012 Aug 6;13:67. doi: 10.1186/1465-9921-13-67.

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