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

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.

Human genetics - 1 May 2005

Boyer Julie, Crosnier Cécile, Driancourt Catherine, Raynaud Nicole, Gonzales Marie, Hadchouel Michelle, Meunier-Rotival Michèle

Abstract excerpt

Heterozygous mutations in JAGGED1 (JAG1), encoding a ligand for Notch receptors, have been identified in patients with Alagille syndrome (AGS). These mutations map to the extracellular and transmembrane domains of JAG1, giving rise in 70% cases to a premature termination codon (PTC). Although haploinsufficiency has been hypothesised as the main mechanism of AGS, a dominant negative effect of truncated forms of...

Read the complete abstract on PubMed

Topics

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

Share to Alagille Syndrome
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to Intercellular Signaling Peptides and Proteins

Share to Jagged-1 Protein

Share to Lymphocytes

Share to Serrate-Jagged Proteins

Source

Identifiers

PMID: 15772854
DOI: 10.1007/s00439-005-1262-7

Genes

JAG1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.PMID 15772854Read ↗

Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling.Semantic proximity Read ↗

Jagged1 mutations in alagille syndrome.Semantic proximity Read ↗

Mutational analysis of the Jagged 1 gene in Alagille syndrome families.Semantic proximity Read ↗

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.Semantic proximity Read ↗

JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.Semantic proximity Read ↗

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

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

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

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

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.Semantic proximity Read ↗

Alagille syndrome and the Jagged1 gene.Semantic proximity Read ↗

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

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