Associated Papers
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.
Gusarova EA et al.
Journal of Human Genetics, 2026
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.
Sharma P et al.
Cell Biology International, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Premature senescence of the liver in Alagille patients.
Jannone G et al.
Plos One, 2023
Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.
Isa HM et al.
Advanced Biomedical Research, 2023
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
Schindler EA et al.
American Journal of Medical Genetics. Part A, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
Zhang E et al.
Molecular Medicine Reports, 2018
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Hauser NS et al.
Molecular Genetics & Genomic Medicine, 2018
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D et al.
Journal of Applied Genetics, 2014
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M et al.
The Febs Journal, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.
Boyer-Di Ponio J et al.
Human Molecular Genetics, 2007
Prenatal molecular diagnosis of inherited cholestatic diseases.
Jung C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2007
Structure-function analysis of delta trafficking, receptor binding and signaling in Drosophila.
Parks AL et al.
Genetics, 2006
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
Jurkiewicz D et al.
Human Mutation, 2005
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
Lu F et al.
American Journal of Human Genetics, 2003
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
Heritage ML et al.
Human Mutation, 2002
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
Giannakudis J et al.
European Journal of Human Genetics : Ejhg, 2001
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP et al.
Human Mutation, 2001
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.
Crosnier C et al.
Human Mutation, 2001
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML et al.
Human Mutation, 2000
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G et al.
Human Mutation, 1999
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID et al.
American Journal of Human Genetics, 1998