ATP binding cassette member A3 (ABCA3): coming of age

被引:2
|
作者
Casey, Alicia [1 ,4 ]
Nogee, Lawrence [2 ]
Wambach, Jennifer [3 ]
机构
[1] Boston Childrens Hosp, Boston, MA 02115 USA
[2] Johns Hopkins Univ, Sch Med, Pediat, Baltimore, MD USA
[3] Washington Univ, Sch Med, St Louis, MO USA
[4] Boston Childrens Hosp, Boston, MA 02199 USA
关键词
ABCA3; Paediatric interstitial lung disease; MUTATIONS; INFANTS; INCREASE; RISK;
D O I
10.1136/thorax-2022-219972
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
引用
收藏
页码:533 / 534
页数:2
相关论文
共 50 条
  • [1] N-linked glycosylation in the ATP binding cassette class A3 (ABCA3) transporter
    Mulugeta, Surafel
    Zhao, Ming
    Hawkins, Arie
    Wang, Ping
    Zhang, Peggy
    Gonzales, Linda
    Guttentag, Susan H.
    Beers, Michael F.
    FASEB JOURNAL, 2013, 27
  • [2] Pulmonary Nodules in a Newborn With ATP-Binding Cassette Transporter A3 (ABCA3) Mutations
    Uchida, Derek A.
    Wert, Susan E.
    Nogee, Lawrence M.
    Carroll, Travis R.
    Chatfield, Barbara A.
    PEDIATRICS, 2011, 127 (05) : E1347 - E1351
  • [3] Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants
    Hu, June Y.
    Yang, Ping
    Wegner, Daniel J.
    Heins, Hillary B.
    Luke, Cliff J.
    Li, Fuhai
    White, Frances V.
    Silverman, Gary A.
    Cole, F. Sessions
    Wambach, Jennifer A.
    HUMAN MUTATION, 2020, 41 (07) : 1298 - 1307
  • [4] Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease
    Saugstad, Ola D.
    Hansen, Thor Willy Ruud
    Ronnestad, Arild
    Nakstad, Britt
    Tollofsrud, Per Arne
    Reinholt, Finn
    Hamvas, Aaron
    Cole, F. Sessions
    Dean, Michael
    Wert, Susan E.
    Whitsett, Jeffrey A.
    Nogee, Lawrence M.
    ACTA PAEDIATRICA, 2007, 96 (02) : 185 - 190
  • [5] ATP BINDING CASSETTE TRANSPORTER A3 (ABCA3) MUTATION AS A CONSIDERATION IN TERM RESPIRATORY DISTRESS SYNDROME (RDS)
    Barbiero, L.
    Buchter, S.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2009, 57 (01) : 344 - 345
  • [6] ATP-binding Cassette Transporter A3 (ABCA3) Mutation in a Late Preterm with Respiratory Distress Syndrome
    Panigrahy, Nalinikant
    Poddutoor, Preetham Kumar
    Chirla, Dinesh Kumar
    INDIAN PEDIATRICS, 2014, 51 (07) : 579 - 580
  • [7] ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome
    Nalinikant Panigrahy
    Preetham Kumar Poddutoor
    Dinesh Kumar Chirla
    Indian Pediatrics, 2014, 51 : 579 - 580
  • [8] Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3
    Paolini, Alessandro
    Baldassarre, Antonella
    Del Gaudio, Ilaria
    Masotti, Andrea
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (08): : 19631 - 19644
  • [9] Gazing into the Crystal Ball: Correlating ATP-binding Cassette Protein A3 (ABCA3) Pathogenic Variant Genotypes and Phenotypes
    Hamill, G.
    Burchard, T.
    Khan, E. K.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2024, 209
  • [10] Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency
    Matsumura, Yoshihiro
    Ban, Nobuhiro
    Ueda, Kazumitsu
    Inagaki, Nobuya
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (45) : 34503 - 34514