The clinical importance of pulmonary gene and protein expression levels in an infant with lethal ABCA3 variants

Pediatr Pulmonol. 2023 Oct;58(10):2956-2959. doi: 10.1002/ppul.26611. Epub 2023 Jul 21.

Authors

Jiro Abe^{1

2

3}, Masahiro Ueki², Ryota Honjou², Kenta Takeda², Yoshitaka Seto², Yuichi Nakamura², Yuta Furuse², Koh Nakata⁴, Kazutoshi Cho^{2

3}

Affiliations

¹ Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
² Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
³ Department of Pediatrics, JCHO Hokkaido Hospital, Sapporo, Japan.
⁴ Division of Pioneering Advanced Therapeutics, Niigata University Medical and Dental Hospital, Niigata, Japan.

PMID: 37477506
DOI: 10.1002/ppul.26611

No abstract available

Keywords: ABCA3; gene expression level; lung biopsy; null variant; surfactant secretion disorder.

Publication types

Letter

MeSH terms

ATP-Binding Cassette Transporters / genetics
ATP-Binding Cassette Transporters / metabolism
Clinical Relevance
Humans
Infant
Infant, Newborn
Lung / diagnostic imaging
Lung / metabolism
Lung Diseases, Interstitial* / genetics
Mutation
Respiratory Distress Syndrome, Newborn* / metabolism

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters