Pediatric Cholestatic diseases: common and unique pathogenic mechanisms
Cholestasis is the predominate feature of many pediatric hepatobiliary diseases. The
physiologic flow of bile requires multiple complex processes working in concert. Bile acid …
physiologic flow of bile requires multiple complex processes working in concert. Bile acid …
Heritable Chronic Cholestatic Liver Diseases: A Review
J Tidwell, GY Wu - Journal of Clinical and Translational …, 2024 - pmc.ncbi.nlm.nih.gov
Chronic cholestasis due to heritable causes is usually diagnosed in childhood. However,
many cases can present and survive into adulthood. The time course varies considerably …
many cases can present and survive into adulthood. The time course varies considerably …
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
MA Gilbert, E Keefer-Jacques, T Jadhav… - The American Journal of …, 2024 - cell.com
Pathogenic variants in the JAG1 gene are a primary cause of the multi-system disorder
Alagille syndrome. Although variant detection rates are high for this disease, there is …
Alagille syndrome. Although variant detection rates are high for this disease, there is …
[HTML][HTML] Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndrome
Notch signaling controls multiple aspects of embryonic development and adult homeostasis.
Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch …
Alagille syndrome is usually caused by a single mutation in the jagged canonical Notch …
Treatment of cholestasis in infants and young children
N Heinz, J Vittorio - Current gastroenterology reports, 2023 - Springer
Abstract Purpose of Review Cholestasis is characterized by a conjugated
hyperbilirubinemia secondary to impaired bile synthesis, transport, or excretion from the …
hyperbilirubinemia secondary to impaired bile synthesis, transport, or excretion from the …
Spatially segregated defects and IGF1‐responsiveness of hilar and peripheral biliary organoids from a model of Alagille syndrome
Abstract Background & Aims Alagille syndrome (ALGS) manifests with peripheral
intrahepatic bile duct (IHBD) paucity, which can spontaneously resolve. In a model for ALGS …
intrahepatic bile duct (IHBD) paucity, which can spontaneously resolve. In a model for ALGS …
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
Event-free survival of maralixibat-treated patients with Ala... : Hepatology Event-free survival of
maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA …
maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA …
Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor
Predictors of 6-year event-free survival in Alagille syndrom... : Hepatology Predictors of 6-year
event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid …
event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid …
Jag1 insufficiency alters liver fibrosis via T cell and hepatocyte differentiation defects
Fibrosis contributes to tissue repair, but excessive fibrosis disrupts organ function. Alagille
syndrome (ALGS, caused by mutations in JAGGED1) results in liver disease and …
syndrome (ALGS, caused by mutations in JAGGED1) results in liver disease and …
Management of adults with Alagille syndrome
Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ
systems and is historically regarded as a disease of childhood. Since it is inherited in an …
systems and is historically regarded as a disease of childhood. Since it is inherited in an …