Two Novel ABCA3 Variants Linked to Bronchopulmonary Dysplasia

被引:0
|
作者
Krishnan, P. [1 ]
Parton, L. A. [2 ]
Scharbach, M. M. [3 ]
Banquet, A. [4 ]
Christie, H. [1 ]
机构
[1] Westchester Med Ctr, Neonatal Perinatal Med, New York, NY USA
[2] NICU, WMC, MFCH, Valhalla, NY USA
[3] NYMC, Pediat Pulmonol, Valhalla, NY USA
[4] New York Med Coll, Valhalla, NY USA
关键词
D O I
暂无
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
A4075
引用
收藏
页数:1
相关论文
共 50 条
  • [1] Two Novel Variants of ABCA3 Associated with BPD
    Parton, L. A.
    Scharbach, M.
    Leong, M.
    Rajbhandari, S.
    Kronn, D.
    Banquet, A.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2021, 203 (09)
  • [2] Functional Genomics of ABCA3 Variants
    Wambach, Jennifer A.
    Yang, Ping
    Wegner, Daniel J.
    Heins, Hillary B.
    Luke, Cliff
    Li, Fuhai
    White, Frances, V
    Cole, F. Sessions
    AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2020, 63 (04) : 436 - 443
  • [3] Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency
    Xu, Kathryn K.
    Wegner, Daniel J.
    Geurts, Lucille C.
    Heins, Hillary B.
    Yang, Ping
    Hamvas, Aaron
    Eghtesady, Pirooz
    Sweet, Stuart C.
    Cole, F. Sessions
    Wambach, Jennifer A.
    PEDIATRIC PULMONOLOGY, 2022, 57 (05) : 1325 - 1330
  • [4] Structure-Based Understanding of ABCA3 Variants
    Onnee, Marion
    Fanen, Pascale
    Callebaut, Isabelle
    de Becdelievre, Alix
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (19)
  • [5] Identification and characterization of a novel ABCA3 mutation
    Park, Sang-Kyu
    Amos, Louella
    Rao, Aparna
    Quasney, Michael W.
    Matsumura, Yoshihiro
    Inagaki, Nobuya
    Dahmer, Mary K.
    PHYSIOLOGICAL GENOMICS, 2010, 40 (02) : 94 - 99
  • [6] Different course of lung disease in two siblings with novel ABCA3 mutations
    Hallik, Maarja
    Annilo, Tarmo
    Ilmoja, Mari-Liis
    EUROPEAN JOURNAL OF PEDIATRICS, 2014, 173 (12) : 1553 - 1556
  • [7] Different course of lung disease in two siblings with novel ABCA3 mutations
    Maarja Hallik
    Tarmo Annilo
    Mari-Liis Ilmoja
    European Journal of Pediatrics, 2014, 173 : 1553 - 1556
  • [8] ABCA3 mutation and pulmonary hypertension:: A link with alveolar capillary dysplasia?
    Danhaive, Olivier
    Peca, Donatella
    Boldrini, Renata
    JOURNAL OF PEDIATRICS, 2008, 152 (06): : 891 - 892
  • [9] Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene
    Chen, Fang
    Xie, Zhiwei
    Zhang, Victor Wei
    Chen, Chen
    Fan, Huifeng
    Zhang, Dongwei
    Jiang, Wenhui
    Wang, Chunli
    Wu, Peiqiong
    FRONTIERS IN GENETICS, 2022, 13
  • [10] Novel Mutation in ABCA3 Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings
    Moore, Gregory P.
    Lines, Matthew A.
    Geraghty, Michael T.
    de Nanassy, Joseph
    Kovesi, Thomas
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2014, 189 (06) : 750 - 752