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Alagille Syndrome

Clinics in liver disease, 2018-11, Vol.22 (4), p.625-641

2018

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Jagged1 (JAG1): Structure, expression, and disease associations

Gene, 2016-01, Vol.576 (1), p.381-384

2016

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Effector memory CD8 T-cells as a novel peripheral blood biomarker for activated T-cell pediatric acute liver failure

PloS one, 2023-06, Vol.18 (6), p.e0286394-e0286394

2023

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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

PLoS genetics, 2018-08, Vol.14 (8), p.e1007532

2018

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Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish

Journal of pediatric gastroenterology and nutrition, 2016-11, Vol.63 (5), p.524-530

2016

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Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development

Proceedings of the National Academy of Sciences - PNAS, 2008-02, Vol.105 (6), p.1955-1959

2008

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Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development

The Journal of clinical investigation, 2009-07, Vol.119 (7), p.1986-1996

2009

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Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

PloS one, 2016-03, Vol.11 (3), p.e0151521-e0151521

2016

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Maralixibat for the treatment of PFIC: Long‐term, IBAT inhibition in an open‐label, Phase 2 study

Hepatology communications, 2022-09, Vol.6 (9), p.2379-2390

2022

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Data-Driven Modeling for Precision Medicine in Pediatric Acute Liver Failure

Molecular medicine (Cambridge, Mass.), 2016-01, Vol.22 (1), p.821-829

2016

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

HGG advances, 2024-10, Vol.5 (4), p.100351, Article 100351

2024

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Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

Hepatology communications, 2020-03, Vol.4 (3), p.387-398

2020

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Placebo‐Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome

Hepatology communications, 2018-10, Vol.2 (10), p.1184-1198

2018

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Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment

Seminars in liver disease, 2021-11, Vol.41 (4), p.525-537

2021

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Alagille Syndrome: Pathogenesis and Clinical Management

1, 2018

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Early Impact of Fontan Operation on Enteric Protein Loss

The Annals of thoracic surgery, 2016-03, Vol.101 (3), p.1025-1030

2016

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Cholestatic liver diseases of genetic etiology: Advances and controversies

Hepatology (Baltimore, Md.), 2022-06, Vol.75 (6), p.1627-1646

2022

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Transcriptional Analysis of Liver Tissue Identifies Distinct Phenotypes of Indeterminate Pediatric Acute Liver Failure

Hepatology communications, 2021-08, Vol.5 (8), p.1373-1384

2021

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Impact of long‐term administration of maralixibat on children with cholestasis secondary to Alagille syndrome

Hepatology communications, 2022-08, Vol.6 (8), p.1922-1933

2022

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Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis

Hepatology communications, 2020-10, Vol.4 (10), p.1516-1526

2020

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Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases—Examination of cholestatic liver disease in Alagille syndrome

Hepatology communications, 2022-08, Vol.6 (8), p.1910-1921

2022

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Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease

Hepatology communications, 2020-11, Vol.4 (11), p.1694-1707

2020

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Human mutation, 2019-12, Vol.40 (12), p.2197-2220

2019

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Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver

PloS one, 2013-12, Vol.8 (12), p.e84383-e84383

2013

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Variability in acceptance of organ offers by pediatric transplant centers and its impact on wait‐list mortality

Liver transplantation, 2018-06, Vol.24 (6), p.803-809

2018

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Alagille Syndrome

Jagged1 (JAG1): Structure, expression, and disease associations

Effector memory CD8 T-cells as a novel peripheral blood biomarker for activated T-cell pediatric acute liver failure

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish

Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development

Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

Maralixibat for the treatment of PFIC: Long‐term, IBAT inhibition in an open‐label, Phase 2 study

Data-Driven Modeling for Precision Medicine in Pediatric Acute Liver Failure

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study

Placebo‐Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment

Alagille Syndrome: Pathogenesis and Clinical Management

Early Impact of Fontan Operation on Enteric Protein Loss

Cholestatic liver diseases of genetic etiology: Advances and controversies

Transcriptional Analysis of Liver Tissue Identifies Distinct Phenotypes of Indeterminate Pediatric Acute Liver Failure

Impact of long‐term administration of maralixibat on children with cholestasis secondary to Alagille syndrome

Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis

Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases—Examination of cholestatic liver disease in Alagille syndrome

Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver

Variability in acceptance of organ offers by pediatric transplant centers and its impact on wait‐list mortality

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