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Items: 1 to 20 of 27


High-throughput discovery of rare insertions and deletions in large cohorts.

Vallania FL, Druley TE, Ramos E, Wang J, Borecki I, Province M, Mitra RD.

Genome Res. 2010 Dec;20(12):1711-8. doi: 10.1101/gr.109157.110. Epub 2010 Nov 1.


A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.

Costantino L, Claut L, Paracchini V, Coviello DA, Colombo C, Porcaro L, Capasso P, Zanardelli M, Pizzamiglio G, Degiorgio D, Seia M.

J Cyst Fibros. 2010 Dec;9(6):411-8. doi: 10.1016/j.jcf.2010.08.009. Epub 2010 Sep 26.


Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.

Gower WA, Wert SE, Ginsberg JS, Golan A, Whitsett JA, Nogee LM.

J Pediatr. 2010 Jul;157(1):62-8. doi: 10.1016/j.jpeds.2010.01.010. Epub 2010 Mar 20.


Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS.

J Pediatr. 2009 Dec;155(6):854-859.e1. doi: 10.1016/j.jpeds.2009.06.006. Epub 2009 Aug 3.


Quantification of rare allelic variants from pooled genomic DNA.

Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD.

Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1.


Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.

Matsumura Y, Ban N, Inagaki N.

Am J Physiol Lung Cell Mol Physiol. 2008 Oct;295(4):L698-707. doi: 10.1152/ajplung.90352.2008. Epub 2008 Aug 1.


Unexplained neonatal respiratory distress due to congenital surfactant deficiency.

Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P.

J Pediatr. 2007 Jun;150(6):649-53, 653.e1.


ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.

Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N.

J Biol Chem. 2007 Mar 30;282(13):9628-34. Epub 2007 Jan 30.


Expression of ABCA3 in developing lung and other tissues.

Stahlman MT, Besnard V, Wert SE, Weaver TE, Dingle S, Xu Y, von Zychlin K, Olson SJ, Whitsett JA.

J Histochem Cytochem. 2007 Jan;55(1):71-83. Epub 2006 Sep 18.


A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD pathology co-operative group.

Langston C, Patterson K, Dishop MK; chILD Pathology Co-operative Group:, Askin F, Baker P, Chou P, Cool C, Coventry S, Cutz E, Davis M, Deutsch G, Galambos C, Pugh J, Wert S, White F.

Pediatr Dev Pathol. 2006 May-Jun;9(3):173-80.


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.


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.


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.


Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles.

Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, Inagaki N, Ueda K.

Biochem Biophys Res Commun. 2004 Nov 5;324(1):262-8.


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.


Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.

N Engl J Med. 2002 Aug 8;347(6):401-7.


Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3.

Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H.

J Biol Chem. 2002 Jun 21;277(25):22147-55. Epub 2002 Apr 8.


ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells.

Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N.

FEBS Lett. 2001 Nov 16;508(2):221-5.


Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards.

Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, Cole FS.

Pediatr Res. 2001 Nov;50(5):666-8.


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. 2001 Feb 22;344(8):573-9. No abstract available.

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