Notch signaling in liver diseases: mechanistic insights and therapeutic implications.

AGEX: a comprehensive database of clinically relevant genetic variants associated with Alagille syndrome across diverse populations.

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Defining the Contribution of Genetic Variants in MRGPRX4 With Pruritus in Paediatric Cholestasis: Evidence From Case-Control Study.

Impacts of Alagille syndrome on sleep of patients and their caregivers.

Use of ileal bile acid transporter inhibitors in children with genetic familial cholestasis and Alagille syndrome: the why, when and how.

Derivation of an iPSC line using the Sendai virus from a newborn boy with Alagille Syndrome.

Pediatric Cholestatic Diseases in the Era of Ileal Bile Acid Transporter (IBAT) Inhibitors.

An Unusual Case of Persistent Vitelline Vein in a Pediatric Liver Transplant Recipient: A Case Report.

Maralixibat for the treatment of severe xanthomas in two children with Alagille syndrome: Case reports.

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

An Ophthalmic Entity More Than Liver Disease, Alagille Syndrome: A Genetically Confirmed Case Report.

Ileal Bile Acid Transporter Inhibitors in Cholestasis: Potential for More Than Just Paediatrics?

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease.

Beyond pruritus in Alagille syndrome: potential effects of maralixibat on fibrosis and portal hypertension-insights from two case studies.

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

JAG1 of all trades, master of CKD? The role of JAG1 in autosomal dominant tubulointerstitial kidney disease.

Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome.

Coexistence of Alagille syndrome and biliary atresia in a neonate: a case report.

A patient with Alagille syndrome had a novel JAG1 gene mutation.

Ocular Findings in Siblings With Alagille Syndrome: A Report of Two Cases.

Assessing Growth in Children With Alagille Syndrome-An Important New Tool and Ongoing Challenges.

Condition-Specific Growth Charts for Children With Alagille Syndrome.

Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.

An overview of paediatric autoimmune and genetic cholestatic liver disease for the adult physician.

Exploring Maralixibat for Treatment-Resistant Pruritus in Intrahepatic Cholestasis of Pregnancy and Primary Biliary Cholangitis: A Case Report.

Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study Group.

Treatment of intractable pruritus with maralixibat in patients with Alagille syndrome before and after reversal of biliary diversion.

Efficacy of ileal bile acid transport inhibitors in children with Alagille syndrome: a meta-analysis.

Alagille syndrome due to a novel JAG1 mutation in a Chinese pediatric patient: A case report.

Clinical characteristics and genetic causes of unexplained pediatric liver disease.

A case of hypoplasia of internal carotid artery and intracranial vasculopathy with Moyamoya syndrome in association with Alagille syndrome.

Prospective Multicenter Longitudinal Measurement of Liver Stiffness in School-Age Children With Cholestatic Liver Disease.

Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular Events.

Pediatric Liver Diseases: Next-Generation Therapies.

How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis?

Ocular findings in a patient with Alagille syndrome.

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Ileal bile acid transporter inhibitors in Alagille syndrome and Progressive Familial Intrahepatic Cholestasis: A systematic review into dose-response.

Plasma proteome correlations with liver stiffness in pediatric cholestasis implicate epithelial to mesenchymal transition.

Transplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.

Antisense oligonucleotide-mediated upregulation of Jag1 ameliorates liver disease phenotypes in a mouse model of Alagille syndrome.

Diagnostic approaches for infants with cholestatic liver diseases: Position paper and perspectives of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.

Growth hormone resistance in children with chronic cholestatic liver disease and reduced skeletal muscle mass.

Odevixibat improves pruritus and bile acid level in Alagille syndrome: A case report.

Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!

Treatment of Pruritus With Maralixibat in Early-Stage Chronic Graft Dysfunction of a Child With Alagille Syndrome.

Liver Transplantation in Childhood: A 2-Year Single Center Experience.

Generalised granuloma annulare in a child with Alagille syndrome with a novel mutation.

The evolving landscape of pediatric hepatology: key updates and future directions.

A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.

Poorly described phenotypes add to the misfortune of rare diseases.

[A case report of adulthood Alagille syndrome].

Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene.

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.

Transcatheter Aortic Valve Replacement and Percutaneous Coronary Intervention After Ozaki Procedure in Alagille Syndrome.

Prompt distinction of Alagille syndrome and biliary Atresia in infants: a comparative study.

Research trends and hotspots of adult Alagille syndrome: a bibliometric analysis.

Molecular Advances in Cholestatic Liver Diseases.

Successful long-term survival following lipiodol chemoembolization for hepatocellular carcinoma in Alagille syndrome: A case report.

Genetic disorders leading to severe hyperlipidemia in children: A case report.

Sound it out: Ultrasound findings in infantile cholestasis.

The "maximum echogenicity" at the right portal vein: Biliary atresia versus Alagille syndrome.

Adeno-associated Virus-mediated Silencing of Sox4 Leads to Long-Term Amelioration of Liver Phenotypes in Mouse Models of Alagille Syndrome.

Optimising Maralixibat in ALGS Management: Key Considerations for Clinical Implementation.

Analysis of the Disease Spectrum Characteristics of Inherited Metabolic Liver Diseases in Two Hepatology Specialist Hospitals in Beijing over the Past 20 Years.

State of the Art: Complex Peripheral Pulmonary Artery Reconstruction Techniques.

Profound vision loss secondary to malignant intracranial hypertension following a multifocal intracranial hemorrhage in an adult with Alagille Syndrome.

A Novel Heterozygous Likely Pathogenic JAG1 Germline Variant in an Adult With Unilateral Persistent Fetal Vasculature.

Lamellar cataract in a child with Alagille syndrome.

Evaluation of Cerebrovascular Reserve Using Basal/Acetazolamide Stress Brain Perfusion SPECT to Confirm Surgery in a Pediatric Moyamoya Disease.

Pulmonary artery stent thrombosis and symptomatic pulmonary hypertension following COVID-19 infection in Alagille patient: A case report.

Pruritus in Chronic Cholestatic Liver Diseases, Especially in Primary Biliary Cholangitis: A Narrative Review.

Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Odevixibat treatment in a child with hypoplastic left heart syndrome and severe cholestatic pruritus: a case report.

Presentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.

Recent advances in the management of pediatric cholestatic liver diseases.

Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome.

Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations.

The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.

Efficacy and Safety of Ileal Bile Acid Transport Inhibitors in Inherited Cholestatic Liver Disorders: A Meta-analysis of Randomized Controlled Trials.

Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.

Dose-related effects of intraduodenal quinine on plasma glucose, glucoregulatory hormones and gastric emptying of a nutrient drink, and energy intake, in men with type 2 diabetes: a double-blind, randomised, crossover study.

Exploring bile acid transporters as key players in cancer development and treatment: Evidence from preclinical and clinical studies.

Right Ventricular Extrinsic Compression Tamponade Caused by Dilation/Necrosis of a Coloplasty Performed for Esophageal Squamous Cell Carcinoma.

Experience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center.

Surgical or medical treatment of obesity-associated type 2 diabetes-an increasing clinical conundrum.

Kidney and vascular involvement in Alagille syndrome.

Microvillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment.

[Analysis of the etiology and clinical indicators of infantile cholestasis].

Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.

Jag1 insufficiency alters liver fibrosis via T cell and hepatocyte differentiation defects.

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

Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.

Generation of human iPSC-derived 3D bile duct within liver organoid by incorporating human iPSC-derived blood vessel.

Complex Pulmonary Artery Rehabilitation in Children with Alagille Syndrome: An Early Single-Center Experience of a Successful Collaborative Work.

Treatment of Condylar Hypoplasia in Alagille Syndrome - A Case Report.

Challenges and insights in Alagille syndrome: a case report.

Durability of Aortic Homografts in Pulmonary Atresia and Major Aortopulmonary Collateral Arteries.

Management of refractory pruritus in Alagille syndrome with dupilumab treatment: A case report.

Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

Exploring odevixibat's efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences.

Heritable Chronic Cholestatic Liver Diseases: A Review.

Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report.

Gastrointestinal effects of GLP-1 receptor agonists: mechanisms, management, and future directions.

Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.

Decreased smooth muscle cells and fibrous thickening of the tunica media in peripheral pulmonary artery stenosis in Alagille syndrome.

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

[Expert consensus on diagnosis and treatment of Alagille syndrome associated liver disease (2024)].

mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs).

Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.

Transporter Proteins as Therapeutic Drug Targets-With a Focus on SGLT2 Inhibitors.

Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots.

What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.

Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.

Human Genetics of Tricuspid Atresia and Univentricular Heart.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Human Genetics of Ventricular Septal Defect.

Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.

[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology].

Dual Deletion of Keap1 and Rbpjκ Genes in Liver Leads to Hepatomegaly and Hypercholesterolemia.

Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial.

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Diseases of bile duct in children.

Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

Successful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report.

Hepatoblastoma in a cirrhotic child with Alagille syndrome.

Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome.

Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.

Novel use of the double kissing crush technique to stent complex pulmonary artery stenosis in a child with Alagille syndrome.

Real-world experience of maralixibat in Alagille syndrome: Novel findings outside of clinical trials.

Plasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation.

Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Two unrelated Alagille syndrome cases of South Indian origin: Showing multi-exonic deletion and a novel mutation in JAG1 gene.

Pediatric Cholestatic Diseases: Common and Unique Pathogenic Mechanisms.

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.

Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndrome.

Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Notch signaling in thyrocytes is essential for adult thyroid function and mammalian homeostasis.

"Tardus-parvus waveform" the only initial clue to mid-aortic syndrome- a rare cause of youth onset hypertension: A case report and a comprehensive review.

The Curious Case of Alagille Syndrome: A Case Report With NANDA-I Classification, NIC, and NOC Linkage to the Patient Care Plan.

Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.

Evaluation of Newborn Direct Bilirubin As Screening for Cholestatic Liver Disease.

Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study.

Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities.

Spatially segregated defects and IGF1-responsiveness of hilar and peripheral biliary organoids from a model of Alagille syndrome.

Paediatric research sets new standards for therapy in paediatric and adult cholestasis.

Cardiac complications caused by biliary diseases: A review of clinical manifestations, pathogenesis and treatment strategies of cholecardia syndrome.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Sarcopenia is associated with osteopenia and impaired quality of life in children with genetic intrahepatic cholestatic liver disease.

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene.

[Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency].

Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant.

Reverse Mirizzi Syndrome.

20-Year Experience With Repair of Pulmonary Atresia or Stenosis and Major Aortopulmonary Collateral Arteries.

Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact.

A neonatal case of vascular ring with Alagille syndrome.

Treatment of Cholestasis in Infants and Young Children.

Evaluation of Clinical Outcomes in Children with Intrahepatic Cholestasis Postpartial External Biliary Diversion: A Single-Center Experience.

Resolution of Pruritus in a Child With Alagille Syndrome Treated With Maralixibat for Seven Years: Durable Response and Discontinuation of Other Medications.

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome.

Management of adults with Alagille syndrome.

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.

Loss of TAZ after YAP deletion severely impairs foregut development and worsens cholestatic hepatocellular injury.

Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene.

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

A child with chronic kidney disease and hepatic dysfunction: Answers.

Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series.

Non-peptide, once-per-day oral orforglipron to compete with established peptide-based, injectable GLP-1 receptor agonists.

Balanced Translocation Disrupting JAG1 Identified by Optical Genomic Mapping in Suspected Alagille Syndrome.

Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor.

Systematic review: efficacy of therapies for cholestatic pruritus.

Bullous lesions following phototherapy in a newborn.

Generation of JAG1 gene c.1615C > T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor.

Cholestatic Pruritus in Children: Conventional Therapies and Beyond.

Evaluation of living donors for hereditary liver disease (siblings, heterozygotes).

Odevixibat Treatment of Alagille Syndrome: A Case Report.

Combined liver-kidney transplantation with delayed kidney implantation: A case report.

Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report.

Alagille-like syndrome with surprising karyotype: a case report.

Premature senescence of the liver in Alagille patients.

Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses.

Childhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist.

ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.

Transgender and Alagille Syndrome: A Rare Case of a Trans Woman with Alagille Syndrome.

Odevixibat: A Review of a Bioactive Compound for the Treatment of Pruritus Approved by the FDA.

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.

Costs of pediatric liver transplantation among commercially insured and Medicaid-insured patients with cholestasis in the US.

Alagille Syndrome: A Case Report.

Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution.

THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.