[HTML][HTML] Biliary Atresia–emerging diagnostic and therapy opportunities

U Lendahl, VCH Lui, PHY Chung, PKH Tam - EBioMedicine, 2021 - thelancet.com
Biliary Atresia is a devastating pediatric cholangiopathy affecting the bile ducts of the liver. In
this review, we describe recent progress in the understanding of liver development with a …

[HTML][HTML] Fibrotic events in the progression of cholestatic liver disease

H Wu, C Chen, S Ziani, LJ Nelson, MA Ávila… - Cells, 2021 - mdpi.com
Cholestatic liver diseases including primary biliary cholangitis (PBC) and primary sclerosing
cholangitis (PSC) are associated with active hepatic fibrogenesis, which can ultimately lead …

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

WY Lam, CSM Tang, MT So, H Yue, JS Hsu… - …, 2021 - thelancet.com
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 …

[HTML][HTML] The pathophysiological significance of fibulin-3

I Livingstone, VN Uversky, D Furniss, A Wiberg - Biomolecules, 2020 - mdpi.com
Fibulin-3 (also known as EGF-containing fibulin extracellular matrix protein 1 (EFEMP1)) is a
secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the …

Single‐cell and spatial transcriptomics reveal the fibrosis‐related immune landscape of biliary atresia

C Ye, J Zhu, J Wang, D Chen, L Meng… - Clinical and …, 2022 - Wiley Online Library
Background Biliary atresia (BA) is a devastating inflammatory and fibrosing cholangiopathy
of neonates with unknown aetiology. We aim to investigate the relationship between these …

[HTML][HTML] Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes

JT Glessner, MB Ningappa, KA Ngo, M Zahid, J So… - Journal of …, 2023 - Elsevier
Background & Aims Biliary atresia (BA) is poorly understood and leads to liver
transplantation (LT), with the requirement for and associated risks of lifelong …

[HTML][HTML] Beta-amyloid deposition around hepatic bile ducts is a novel pathobiological and diagnostic feature of biliary atresia

RO Babu, VCH Lui, Y Chen, RSW Yiu, Y Ye, B Niu… - Journal of …, 2020 - Elsevier
Background and Aims Biliary atresia (BA) is a poorly understood and devastating obstructive
bile duct disease of newborns. It is often diagnosed late, is incurable and frequently requires …

Genetics in biliary atresia

M Girard, G Panasyuk - Current opinion in gastroenterology, 2019 - journals.lww.com
Despite decades since its description and decades of intensive researches, cause of biliary
atresia disease remains enigmatic. The inheritance of biliary atresia is not Mendelian …

Genetic contributions to biliary atresia: A developmental cholangiopathy

DJ Hellen, SJ Karpen - Seminars in liver disease, 2023 - thieme-connect.com
Biliary atresia (BA) is the most prevalent serious liver disease of infancy and childhood, and
the principal indication for liver transplantation in pediatrics. BA is best considered as an …

Genome‐wide association studies of structural birth defects: A review and commentary

PJ Lupo, LE Mitchell, MM Jenkins - Birth defects research, 2019 - Wiley Online Library
Background While there is strong evidence that genetic risk factors play an important role in
the etiologies of structural birth defects, compared to other diseases, there have been …