Associated Papers
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
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ et al.
Seminars in Liver Disease, 2021
Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts.
Gilbert MA et al.
Translational Gastroenterology and Hepatology, 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.
Safari-Arababadi A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2018
Human hepatic organoids for the analysis of human genetic diseases.
Guan Y et al.
Jci Insight, 2017
Jagged1 (JAG1): Structure, expression, and disease associations.
Grochowski CM et al.
Gene, 2016
Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
Ziesenitz VC et al.
Cardiology in the Young, 2016
Existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot.
Kheirollahi M et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2016
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2013
Notch signaling in human development and disease.
Penton AL et al.
Seminars in Cell & Developmental Biology, 2012
Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
Tada M et al.
The Febs Journal, 2012
Alagille syndrome: pathogenesis, diagnosis and management.
Turnpenny PD et al.
European Journal of Human Genetics : Ejhg, 2012
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Guida V et al.
Clinical Genetics, 2011
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children.
Kola S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer RC et al.
Human Mutation, 2010
The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.
Guarnaccia C et al.
The Febs Journal, 2009
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
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 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
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Le Caignec C et al.
American Journal of Human Genetics, 2002
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
Eldadah ZA et al.
Human Molecular Genetics, 2001