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467 results

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ABCA3-related interstitial lung disease beyond infancy.
Li Y, Seidl E, Knoflach K, Gothe F, Forstner ME, Michel K, Pawlita I, Gesenhues F, Sattler F, Yang X, Kroener C, Reu-Hofer S, Ley-Zaporozhan J, Kammer B, Krüger-Stollfuß I, Dinkel J, Carlens J, Wetzke M, Moreno-Galdó A, Torrent-Vernetta A, Lange J, Krenke K, Rumman N, Mayell S, Sismanlar T, Aslan A, Regamey N, Proesmans M, Stehling F, Naehrlich L, Ayse K, Becker S, Koerner-Rettberg C, Plattner E, Manali ED, Papiris SA, Campo I, Kappler M, Schwerk N, Griese M. Li Y, et al. Thorax. 2023 Jun;78(6):587-595. doi: 10.1136/thorax-2022-219434. Epub 2023 Feb 20. Thorax. 2023. PMID: 36808083 Free PMC article.
Lung histology pattern were variable (chronic pneumonitis of infancy, non-specific interstitial pneumonia, and desquamative interstitial pneumonia). In 37/44 subjects, the ABCA3 sequence variants were missense variants, small insertions or deletions with in-silico tools pr …
Lung histology pattern were variable (chronic pneumonitis of infancy, non-specific interstitial pneumonia, and desquamative interstitial pne …
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.
Klay D, Platenburg MGJP, van Rijswijk RHNAJ, Grutters JC, van Moorsel CHM. Klay D, et al. Curr Opin Pulm Med. 2020 May;26(3):293-301. doi: 10.1097/MCP.0000000000000680. Curr Opin Pulm Med. 2020. PMID: 32238781 Review.
PURPOSE OF REVIEW: The current review aims to recognize the variability in clinical presentation of adult patients with bi-allelic ABCA3 mutations, create more depth in ABCA3 mutations reported and highlight the influence of environmental factors on disease course. …
PURPOSE OF REVIEW: The current review aims to recognize the variability in clinical presentation of adult patients with bi-allelic ABCA3 …
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X, Forstner M, Rapp CK, Rothenaigner I, Li Y, Hadian K, Griese M. Yang X, et al. Int J Mol Sci. 2023 May 3;24(9):8179. doi: 10.3390/ijms24098179. Int J Mol Sci. 2023. PMID: 37175887 Free PMC article.
Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may cause interstitial lung diseases in children (chILD) and adults. ...We generated evi …
Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is …
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF, Mulugeta S. Beers MF, et al. Cell Tissue Res. 2017 Mar;367(3):481-493. doi: 10.1007/s00441-016-2554-z. Epub 2016 Dec 26. Cell Tissue Res. 2017. PMID: 28025703 Free PMC article. Review.
Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases. ...These insights and the role of environmental factors and modifier genes are discussed in the context of the considerable variability in disease presentation observ …
Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases. ...These insights and the …
Functional Genomics of ABCA3 Variants.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS. Wambach JA, et al. Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA. Am J Respir Cell Mol Biol. 2020. PMID: 32692933 Free PMC article.
We also confirmed pharmacologic rescue of ABCA3 variant-encoded mistrafficking and vesicle diameter in A549/ABCA3(-/-) cells that express p.G1421R (type I mutant). A549/ABCA3(-/-) cells provide a scalable, genetically versatile, physiologically relevant funct …
We also confirmed pharmacologic rescue of ABCA3 variant-encoded mistrafficking and vesicle diameter in A549/ABCA3(-/-) cells t …
The biology, function, and applications of exosomes in cancer.
Liu J, Ren L, Li S, Li W, Zheng X, Yang Y, Fu W, Yi J, Wang J, Du G. Liu J, et al. Acta Pharm Sin B. 2021 Sep;11(9):2783-2797. doi: 10.1016/j.apsb.2021.01.001. Epub 2021 Jan 7. Acta Pharm Sin B. 2021. PMID: 34589397 Free PMC article. Review.
First Steps toward Personalized Therapies for ABCA3 Deficiency.
Wambach JA, Nogee LM, Cole FS. Wambach JA, et al. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. Am J Respir Cell Mol Biol. 2022. PMID: 35077664 Free PMC article. No abstract available.
ATP binding cassette member A3 (ABCA3): coming of age.
Casey A, Nogee L, Wambach J. Casey A, et al. Thorax. 2023 Jun;78(6):533-534. doi: 10.1136/thorax-2022-219972. Epub 2023 Mar 2. Thorax. 2023. PMID: 36863776 Free PMC article. No abstract available.
Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A. Onnée M, et al. Int J Mol Sci. 2021 Sep 24;22(19):10282. doi: 10.3390/ijms221910282. Int J Mol Sci. 2021. PMID: 34638622 Free PMC article.
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. ...We pinpointed amino-acids within the NBDs, the RDs and within the interfaces between the N …
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respi …
467 results