Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 213

1.

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80. Epub 2006 May 25.

PMID:
16728712
2.

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.

3.

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.

4.

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

Matsumura Y, Ban N, Ueda K, Inagaki N.

J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7.

5.

Ultrastructure of lamellar bodies in congenital surfactant deficiency.

Edwards V, Cutz E, Viero S, Moore AM, Nogee L.

Ultrastruct Pathol. 2005 Nov-Dec;29(6):503-9.

PMID:
16316951
6.

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
7.

Genetic disorders of surfactant homeostasis.

Whitsett JA, Wert SE, Xu Y.

Biol Neonate. 2005;87(4):283-7. Epub 2005 Jun 1. Review.

PMID:
15985750
8.

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
9.
10.

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, Stronati M, Carnielli VP, Cogo PE, Danhaive O.

Respir Res. 2011 Aug 25;12:115. doi: 10.1186/1465-9921-12-115.

11.

Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect.

Tryka AF, Wert SE, Mazursky JE, Arrington RW, Nogee LM.

Pediatr Dev Pathol. 2000 Jul-Aug;3(4):335-45.

PMID:
10890249
12.

Genetic disorders of surfactant proteins.

Hamvas A, Cole FS, Nogee LM.

Neonatology. 2007;91(4):311-7. Epub 2007 Jun 7. Review.

PMID:
17575475
13.

Inherited disorders of neonatal lung diseases.

Yurdakök M.

Turk J Pediatr. 2004 Apr-Jun;46(2):105-14. Review.

PMID:
15214737
14.

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

Gonçalves JP, Pinheiro L, Costa M, Silva A, Gonçalves A, Pereira A.

Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20.

PMID:
24269975
15.

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M.

Hum Mutat. 1999;14(6):502-9.

PMID:
10571948
16.

Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice.

Besnard V, Matsuzaki Y, Clark J, Xu Y, Wert SE, Ikegami M, Stahlman MT, Weaver TE, Hunt AN, Postle AD, Whitsett JA.

Am J Physiol Lung Cell Mol Physiol. 2010 May;298(5):L646-59. doi: 10.1152/ajplung.00409.2009. Epub 2010 Feb 26.

17.

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

Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, Shuman H.

J Biol Chem. 2006 Apr 7;281(14):9791-800. Epub 2006 Jan 16.

18.

Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.

Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito-Nanjo Y, Uchiyama T, Rikiishi T, Sasahara Y, Sakamoto O, Setoguchi Y, Kure S.

Eur J Pediatr. 2013 Jul;172(7):953-7. doi: 10.1007/s00431-013-1977-8. Epub 2013 Feb 27.

PMID:
23443156
19.

Partial deficiency of surfactant protein B in an infant with chronic lung disease.

Ballard PL, Nogee LM, Beers MF, Ballard RA, Planer BC, Polk L, deMello DE, Moxley MA, Longmore WJ.

Pediatrics. 1995 Dec;96(6):1046-52.

PMID:
7491219
20.

Surfactant composition and function in patients with ABCA3 mutations.

Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A.

Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26.

PMID:
16641205

Supplemental Content

Support Center