Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell‐to‐cell signaling during differenti...

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Veröffentlicht in:	American journal of medical genetics 2001-10, Vol.103 (2), p.166-171
Hauptverfasser:	Stankiewicz, Paweł, Rujner, Jolanta, Löffler, Christiane, Krüger, Antje, Nimmakayalu, Manjunath, Piłacik, Bożena, Krajewska-Walasek, Małgorzata, Gutkowska, Anna, Hansmann, Ingo, Giannakudis, Ioannis
Format:	Artikel
Sprache:	eng
Schlagworte:	Alagille syndrome Alagille Syndrome - genetics Alagille Syndrome - pathology Biological and medical sciences Blotting, Southern Calcium-Binding Proteins Child, Preschool chromosome 20 Chromosome Banding Chromosome Inversion Chromosomes, Human, Pair 20 - genetics DNA - genetics Gastroenterology. Liver. Pancreas. Abdomen Humans In Situ Hybridization, Fluorescence Infant Intercellular Signaling Peptides and Proteins Jagged-1 Protein Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Membrane Proteins Mutation Other diseases. Semiology paracentric inversion Proteins - genetics Serrate-Jagged Proteins α-1-antitrypsin deficiency
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