Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational analysis of the Jagged 1 gene in Alagille syndrome families.

Human molecular genetics - 1 Sept 1998

Yuan Z R, Kohsaka T, Ikegaya T, Suzuki T, Okano S, Abe J, Kobayashi N, Yamada M

Abstract excerpt

Alagille syndrome (AGS) is an autosomal dominant disease characterized by five major abnormalities in the liver, heart, face, vertebrae and eye. The responsible gene has been recently identified as the human Jagged 1 (JAG1) gene, which encodes a ligand for the Notch receptor. We analyzed the JAG1 gene in eight AGS families, including affected and unaffected individuals, at the genomic DNA level, mainly by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Primers
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Membrane Proteins

Share to Mutation

Share to Pedigree

Share to Point Mutation

Source

Identifiers

PMID: 9700188
DOI: 10.1093/hmg/7.9.1363

Genes

JAG1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of the Jagged 1 gene in Alagille syndrome families.PMID 9700188Read ↗

Jagged-1 mutation analysis in Italian Alagille syndrome patients.Semantic proximity Read ↗

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.Semantic proximity Read ↗

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.Semantic proximity Read ↗

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.Semantic proximity Read ↗

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.Semantic proximity Read ↗

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.Semantic proximity Read ↗

Clinical and molecular genetics of Alagille syndrome.Semantic proximity Read ↗

Mutations in the human Jagged1 gene are responsible for Alagille syndrome.Semantic proximity Read ↗

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.Semantic proximity Read ↗

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.Semantic proximity Read ↗

Jagged1 mutations in alagille syndrome.Semantic proximity Read ↗

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.