| Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study. | Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome-A Pilot Study.
Anciuc-Crauciuc M, Cucerea MC, Crauciuc GA, Tripon F, Bănescu CV., Free PMC Article | 04/2/2024 |
| Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. | Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
Diesler R, Legendre M, Si-Mohamed S, Brillet PY, Wemeau L, Manali ED, Gagnadoux F, Hirschi S, Lorillon G, Reynaud-Gaubert M, Bironneau V, Blanchard E, Bourdin A, Dominique S, Justet A, Macey J, Marchand-Adam S, Morisse-Pradier H, Nunes H, Papiris SA, Traclet J, Traore I, Crestani B, Amselem S, Nathan N, Borie R, Cottin V, OrphaLung network. | 03/20/2024 |
| Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations. | Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.
Sun YL, Hennessey EE, Heins H, Yang P, Villacorta-Martin C, Kwan J, Gopalan K, James M, Emili A, Cole FS, Wambach JA, Kotton DN., Free PMC Article | 02/6/2024 |
| Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury. | Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury.
El Demellawy D, Kovesi T, Gowans R, Oltean I, Huang L, White-Brown A, Sawyer SL. | 02/2/2024 |
| Increased Expression of the ABCA1 and ABCA3 Transporter Genes is Associated with Cisplatin Resistance in Breast Cancer Cells. | Increased Expression of the ABCA1 and ABCA3 Transporter Genes is Associated with Cisplatin Resistance in Breast Cancer Cells.
Al-Shumary DS, Al-Shammari AM, Rasheed MN., Free PMC Article | 11/30/2023 |
| ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine. | ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X, Forstner M, Rapp CK, Rothenaigner I, Li Y, Hadian K, Griese M., Free PMC Article | 06/7/2023 |
| ABCA3-related interstitial lung disease beyond infancy. | 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., Free PMC Article | 05/18/2023 |
| Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants. | Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
Balinotti JE, Mallie C, Maffey A, Colom A, Epaud R, de Becdelievre A, Fanen P, Delestrain C, Medín M, Teper A. | 01/28/2023 |
| Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. | Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes.
Blume F, Kirsten H, Ahnert P, Chakraborty T, Gross A, Horn K, Toliat MR, Nürnberg P, Westenfelder EM, Goepel W, Scholz M., Free PMC Article | 09/3/2022 |
| Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency. | Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK, Wegner DJ, Geurts LC, Heins HB, Yang P, Hamvas A, Eghtesady P, Sweet SC, Sessions Cole F, Wambach JA., Free PMC Article | 05/7/2022 |
| Cryo-EM structures of the human surfactant lipid transporter ABCA3. | Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T, Zhang Z, Yue J, Fang Q, Gong X., Free PMC Article | 04/23/2022 |
| ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species. | ATP-binding cassette transporters mediate differential biosynthesis of glycosphingolipid species.
Budani M, Auray-Blais C, Lingwood C., Free PMC Article | 03/26/2022 |
| A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure. | A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.
Zhang W, Liu Z, Lin Y, Wang R, Xu J, He Y, Zhang F, Wu L, Chen D., Free PMC Article | 03/5/2022 |
| A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death. | A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.
Al-Iede M, Khanfar M, Srour L, Rabah R, Al-Abbadi M, Azab B, Badran EF. | 01/15/2022 |
| Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications. | Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.
Zhang D, Newton CA., Free PMC Article | 01/15/2022 |
| Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants. | Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hu JY, Yang P, Wegner DJ, Heins HB, Luke CJ, Li F, White FV, Silverman GA, Sessions Cole F, Wambach JA., Free PMC Article | 11/6/2021 |
| Structure-Based Understanding of ABCA3 Variants. | Structure-Based Understanding of ABCA3 Variants.
Onnée M, Fanen P, Callebaut I, de Becdelièvre A., Free PMC Article | 10/30/2021 |
| Heterogeneity in Human Induced Pluripotent Stem Cell-derived Alveolar Epithelial Type II Cells Revealed with ABCA3/SFTPC Reporters. | Heterogeneity in Human Induced Pluripotent Stem Cell-derived Alveolar Epithelial Type II Cells Revealed with ABCA3/SFTPC Reporters.
Sun YL, Hurley K, Villacorta-Martin C, Huang J, Hinds A, Gopalan K, Caballero IS, Russo SJ, Kitzmiller JA, Whitsett JA, Beers MF, Kotton DN., Free PMC Article | 10/16/2021 |
| Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency. | Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.
Bozkurt HB, Şahin Y. | 10/2/2021 |
| ABCA3 deficiency dramatically improved by azithromycin administration. | ABCA3 deficiency dramatically improved by azithromycin administration.
Nishida D, Kawabe S, Iwata N, Cho K. | 09/18/2021 |
| Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter. | Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN, Smith EA, Wiens K, Nogee LM, Luquette M, Nelson AC, Wikenheiser-Brokamp KA., Free PMC Article | 05/29/2021 |
| ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature. | 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. | 02/6/2021 |
| Functional Genomics of ABCA3 Variants. | Functional Genomics of ABCA3 Variants.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS., Free PMC Article | 11/28/2020 |
| Potentiation of ABCA3 lipid transport function by ivacaftor and genistein. | Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Kinting S, Li Y, Forstner M, Delhommel F, Sattler M, Griese M., Free PMC Article | 08/15/2020 |
| The assay presented in this work probes the choline containing lipid transport function of ABCA3. Visualization and quantification of fluorescence intensity of the labeled lipids inside ABCA3+ vesicles at equilibrium can specifically assess the transport function of ABCA3. | Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Li Y, Kinting S, Höppner S, Forstner ME, Uhl O, Koletzko B, Griese M. | 02/29/2020 |