Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

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...

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Main Authors: Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Patrick Ho-Yu Chung, John M. Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Hoa Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O'Callaghan, Maria-Mercè Garcia-Barceló, So-Lun Lee, Pak-Chung Sham, Vincent Chi-Hang Lui, Paul Kwong-Hang Tam
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:EBioMedicine
Subjects:
Biliary atresia
Whole exome sequencing
Rare variants
Cilia dysfunction
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396421003236

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http://www.sciencedirect.com/science/article/pii/S2352396421003236

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