Article
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
EBioMedicine - 1 Sept 2021
Lam Wai-Yee, Tang Clara Sze-Man, So Man-Ting, Yue Haibing, Hsu Jacob Shujui, Chung Patrick Ho-Yu, Nicholls John M, Yeung Fanny, Lee Chun-Wai Davy, Ngo Diem Ngoc, Nguyen Pham Anh Hoa, Mitchison Hannah M, Jenkins Dagan, O'Callaghan Christopher, Garcia-Barceló Maria-Mercè, Lee So-Lun, Sham Pak-Chung, Lui Vincent Chi-Hang, Tam Paul Kwong-Hang
Abstract excerpt
BACKGROUND: Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (common form: > 85%) remains poorly defined. METHODS: We conducted whole exome sequencing on 89 nonsyndromic BA trios to identify rare variants contributing to BA...
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