1 | ABCA3, SMDP3
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| Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
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| Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L.
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| Hum Mol Genet 21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.
2012
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2 | ABCA1, ABCA3
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| Expression of the lipid transporters ABCA3 and ABCA1 is diminished in human breast cancer tissue.
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| Schimanski S, Wild PJ, Treeck O, Horn F, Sigruener A, Rudolph C, Blaszyk H, Klinkhammer-Schalke M, Ortmann O, Hartmann A, Schmitz G.
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| Horm Metab Res 42(2):102-9. Epub 2009 Nov 9.
2010
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3 | ABCA3, SMDP3
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| Identification and characterization of a novel ABCA3 mutation.
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| Park SK, Amos L, Rao A, Quasney MW, Matsumura Y, Inagaki N, Dahmer MK.
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| Physiol Genomics 40(2):94-9. Epub 2009 Oct 27.
2010
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4 | ABCA3
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| The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
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| Engelbrecht S, Kaltenborn E, Griese M, Kern S.
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| FEBS Lett 584(20):4306-12. Epub 2010 Sep 21.
2010
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5 | ABCA3, SMDP3
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| ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn.
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| Anandarajan M, Paulraj S, Tubman R.
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| Ulster Med J 78(1):51-2.
2009
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6 | ABCA3
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| Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration.
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| Chapuy B, Koch R, Radunski U, Corsham S, Cheong N, Inagaki N, Ban N, Wenzel D, Reinhardt D, Zapf A, Schweyer S, Kosari F, Klapper W, Truemper L, Wulf GG.
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| Leukemia 22(8):1576-86. Epub 2008 May 8.
2008
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7 | ABCA3
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| ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.
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| Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N.
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| J Biol Chem 282(13):9628-34. Epub 2007 Jan 30. 2007
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8 | ABCA3
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| Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression.
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| Besnard V, Xu Y, Whitsett JA.
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| Am J Physiol Lung Cell Mol Physiol 293(6):L1395-405. Epub 2007 Sep 21.
2007
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9 | ABCA3, PRPH2, SMDP3
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| Surfactant composition and function in patients with ABCA3 mutations.
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| Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A.
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| Pediatr Res 59(6):801-5. Epub 2006 Apr 26. 2006
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10 | ABCA3, PRPH2
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| Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
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| Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, Shuman H.
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| J Biol Chem 281(14):9791-800. Epub 2006 Jan 16. 2006
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11 | ABCA3, PRPH2, SMDP3
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| ABCA3 gene mutations in newborns with fatal surfactant deficiency.
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| Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.
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| N Engl J Med 350(13):1296-303. 2004
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12 | ABCA3, PRPH2
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| 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.
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| Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, Inagaki N, Ueda K.
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| Biochem Biophys Res Commun 324(1):262-8. 2004
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13 | ABCA3
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| Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3.
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| Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H.
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| J Biol Chem 277(25):22147-55. Epub 2002 Apr 08. 2002
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14 | ABCA3
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| ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
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| Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N.
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| FEBS Lett 508(2):221-5. 2001
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15 | ABCA3
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| The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3.
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| Connors TD, et al.
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| Genomics 39 : 231-234. 1997
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16 | ABCA3, AMDHD2, E4F1, NTN2L, PKD1, RAB26L, RNPS1, RPL3L, RPS2, TSC2
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| Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p13.3.
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| Burn TC, Connors TD, Van Raay TJ, Dackowski WR, Millholland JM, Klinger KW, Landes GM.
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| Genome Res 6 : 525-537. 1996
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17 | ABCA3, AMDHD2, E4F1, NTN2L, PKD1, RAB26L, RNPS1, RPL3L, RPS2, TSC2
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| The region surrounding the PKD1 gene : a 700-kb P1 contig from a YAC-deficient interval.
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| Dackowski WR, Connors TD, Bowe AE, Stanton V Jr, Housman D, Doggett NA, Landes GM, Klinger KW.
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| Genome Res 6 : 515-524. 1996
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18 | ABCA3
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| Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein.
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| Klugbauer N, et al.
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| FEBS Lett 391 : 61-65. 1996
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19 | ABAC1L, ABCA10, ABCA13, ABCA3, ABCA5, ABCA6, ABCB5, ABCB6, ABCB7, ABCB8, ABCB9, ABCC1, ABCC10, ABCC2, ABCC4, ABCC5, ABCF1, ABCF2, ABCF3
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| Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.
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| Allikmets R, Gerrard B, Hutchinson A, Dean M.
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| Hum Mol Genet 5(10):1649-55. 1996
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20 | ABCA1, ABCA2, ABCA3
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| Cloning of two novel ABC transporters mapping on human chromosome 9.
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| Luciani MF, et al.
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| Genomics 21 : 150-159. 1994
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