Article

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new Low-Notch Activity cells

2025-06-11

Abstract excerpt

<title>Abstract</title> <p>The autosomal dominant multisystemic Alagille Syndrome (ALGS) is an important cause of pediatric cholestasis. ALGS is associated with pathogenic variants in JAG1 (encoded by JAG1) or NOTCH2 (encoded by NOTCH2), ligand and receptor components of the Notch-signaling pathway, respectively. The detected missense variants are most commonly classified as variants of uncertain significance (VU...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: eec8e1ff-1370-5390-a360-7c6a782b8d36
DOI: 10.21203/rs.3.rs-6818438/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new Low-Notch Activity cellsDOI 10.21203/rs.3.rs-6818438/v1Read

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

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.Semantic proximity Read

Alagille syndrome mutation update: Comprehensive overview ofJAG1andNOTCH2mutation frequencies and insight into missense variant classificationSemantic proximity Read

Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and TreatmentSemantic proximity Read

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

Alagille Syndrome: Diagnostic Challenges and Advances in ManagementSemantic proximity Read

NOTCH2 mutations in Alagille syndrome.Semantic proximity Read

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

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

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.Semantic proximity Read

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.Semantic proximity Read

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