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Select item 109720181.

Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms of ABCA3 in Newborns with Respiratory Distress Syndrome—A Pilot Study

Mădălina Anciuc-Crauciuc, Manuela Camelia Cucerea, George-Andrei Crauciuc, Florin Tripon, Claudia Violeta Bănescu

Medicina (Kaunas) 2024 Mar; 60(3): 419. Published online 2024 Feb 29. doi: 10.3390/medicina60030419

PMCID:: PMC10972018

Abstract Article PDF–1.1M

Select item 107866932.

Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations

Yuliang L. Sun, Erin E. Hennessey, Hillary Heins, Ping Yang, Carlos Villacorta-Martin, Julian Kwan, Krithi Gopalan, Marianne James, Andrew Emili, F. Sessions Cole, Jennifer A. Wambach, Darrell N. Kotton

J Clin Invest. 2024 Jan 16; 134(2): e164274. Published online 2024 Jan 16. doi: 10.1172/JCI164274

PMCID:: PMC10786693

Abstract Article PDF–11M

Select item 103140273.

Yang Li, Elias Seidl, Katrin Knoflach, Florian Gothe, Maria Elisabeth Forstner, Katarzyna Michel, Ingo Pawlita, Florian Gesenhues, Franziska Sattler, Xiaohua Yang, Carolin Kroener, Simone Reu-Hofer, Julia Ley-Zaporozhan, Birgit Kammer, Ingrid Krüger-Stollfuß, Julien Dinkel, Julia Carlens, Martin Wetzke, Antonio Moreno-Galdó, Alba Torrent-Vernetta, Joanna Lange, Katarzyna Krenke, Nisreen Rumman, Sarah Mayell, Tugba Sismanlar, Ayse Aslan, Nicolas Regamey, Marijke Proesmans, Florian Stehling, Lutz Naehrlich, Kilinc Ayse, Sebastian Becker, Cordula Koerner-Rettberg, Erika Plattner, Effrosyni D Manali, Spyridon A Papiris, Ilaria Campo, Matthias Kappler, Nicolaus Schwerk, Matthias Griese

Thorax. 2023 Jun; 78(6): 587–595. Published online 2023 Feb 20. doi: 10.1136/thorax-2022-219434

PMCID:: PMC10314027

Abstract Article PDF–4.6M

Select item 101792774.

ABCA3 Deficiency—Variant-Specific Response to Hydroxychloroquine

Xiaohua Yang, Maria Forstner, Christina K. Rapp, Ina Rothenaigner, Yang Li, Kamyar Hadian, Matthias Griese

Int J Mol Sci. 2023 May; 24(9): 8179. Published online 2023 May 3. doi: 10.3390/ijms24098179

PMCID:: PMC10179277

Abstract Article PDF–7.1M

Select item 94110635.

Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes

Felix Blume, Holger Kirsten, Peter Ahnert, Trinad Chakraborty, Arnd Gross, Katrin Horn, Mohammad Reza Toliat, Peter Nürnberg, Eva-Maria Westenfelder, Wolfgang Goepel, Markus Scholz

Pediatr Res. 2022; 92(1): 190–198. Published online 2021 Aug 31. doi: 10.1038/s41390-021-01689-y

PMCID:: PMC9411063

Abstract Article PDF–837K

Select item 91484306.

Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency

Kathryn K. Xu, Daniel J. Wegner, Lucille C. Geurts, Hillary B. Heins, Ping Yang, Aaron Hamvas, Pirooz Eghtesady, Stuart C. Sweet, F. Sessions Cole, Jennifer A. Wambach

Pediatr Pulmonol. Author manuscript; available in PMC 2022 May 29.

Published in final edited form as: Pediatr Pulmonol. 2022 May; 57(5): 1325–1330. Published online 2022 Mar 17. doi: 10.1002/ppul.25862

PMCID:: PMC9148430

Abstract Article PDF–598K

Select item 89931097.

Cryo-EM structures of the human surfactant lipid transporter ABCA3

Tian Xie, Zike Zhang, Jian Yue, Qi Fang, Xin Gong

Sci Adv. 2022 Apr; 8(14): eabn3727. Published online 2022 Apr 8. doi: 10.1126/sciadv.abn3727

PMCID:: PMC8993109

Abstract Article PDF–7.6M

Select item 85569978.

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen

BMC Med Genomics. 2021; 14: 256. Published online 2021 Oct 29. doi: 10.1186/s12920-021-01098-4

PMCID:: PMC8556997

Abstract Article PDF–1.1M

Select item 85089249.

Structure-Based Understanding of ABCA3 Variants

Marion Onnée, Pascale Fanen, Isabelle Callebaut, Alix de Becdelièvre

Int J Mol Sci. 2021 Oct; 22(19): 10282. Published online 2021 Sep 24. doi: 10.3390/ijms221910282

PMCID:: PMC8508924

Abstract Article PDF–3.9M

Select item 752892410.

Functional Genomics of ABCA3 Variants

Jennifer A. Wambach, Ping Yang, Daniel J. Wegner, Hillary B. Heins, Cliff Luke, Fuhai Li, Frances V. White, F. Sessions Cole

Am J Respir Cell Mol Biol. 2020 Oct; 63(4): 436–443. doi: 10.1165/rcmb.2020-0034MA

PMCID:: PMC7528924

Abstract Article PDF–2.0M

Select item 730436411.

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter

Zoltán N. Oltvai, Eric A. Smith, Katie Wiens, Lawrence M. Nogee, Mark Luquette, Andrew C. Nelson, Kathryn A. Wikenheiser-Brokamp

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005074. doi: 10.1101/mcs.a005074

PMCID:: PMC7304364

Abstract Article PDF–6.1M

Select item 729278612.

Functional Characterization of 4 ATP-Binding Cassette Transporter A3 Gene (ABCA3) Variants

June Y. Hu, Ping Yang, Daniel J. Wegner, Hillary B. Heins, Cliff J. Luke, Fuhai Li, Frances V. White, Gary A. Silverman, F. Sessions Cole, Jennifer A. Wambach

Hum Mutat. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: Hum Mutat. 2020 Jul; 41(7): 1298–1307. Published online 2020 Apr 1. doi: 10.1002/humu.24014

PMCID:: PMC7292786

Abstract Article PDF–1006K

Select item 668132713.

A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome

Georgios Mitsiakos, Christos Tsakalidis, Paraskevi Karagianni, Dimitra Gialamprinou, Ilias Chatziioannidis, Ioannis Papoulidis, Ioannis Tsanakas, Vasiliki Soubasi

Medicina (Kaunas) 2019 Jul; 55(7): 389. Published online 2019 Jul 19. doi: 10.3390/medicina55070389

PMCID:: PMC6681327

Abstract Article PDF–2.0M

Select item 548137314.

Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population

Wei Zhou, Yi Zhuang, Jiapeng Sun, Xiaofen Wang, Qingya Zhao, Lizhi Xu, Yaping Wang

Sci Rep. 2017; 7: 4097. Published online 2017 Jun 22. doi: 10.1038/s41598-017-04486-y

PMCID:: PMC5481373

Abstract Article PDF–2.2M

Select item 510518115.

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome

Jennifer A. Wambach, Ping Yang, Daniel J. Wegner, Hillary B. Heins, Lyudmila N. Kaliberova, Sergey A. Kaliberov, David T. Curiel, Frances V. White, Aaron Hamvas, Brian P. Hackett, F. Sessions Cole

Am J Respir Cell Mol Biol. 2016 Nov; 55(5): 716–721. doi: 10.1165/rcmb.2016-0008OC