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

Li, L; Krantz, I D; Deng, Y; Genin, A; Banta, A B; Collins, C C; Qi, M; Trask, B J; Kuo, W L; Cochran, J; Costa, T; Pierpont, M E; Rand, E B; Piccoli, D A; Hood, L; Spinner, N B

Li, L; Krantz, I D; Deng, Y; Genin, A; Banta, A B; Collins, C C; Qi, M; Trask, B J; Kuo, W L; Cochran, J; Costa, T; Pierpont, M E; Rand, E B; Piccoli, D A; Hood, L; Spinner, N B.

Affiliation

Li L; Stowers Institute for Medical Research, Department of Molecular Biotechnology, University of Washington, Seattle 98195 USA.

Nat Genet ; 16(3): 243-51, 1997 Jul.

Article in En | MEDLINE | ID: mdl-9207788

Subject(s)

Alagille Syndrome/genetics; Membrane Proteins/genetics; Receptors, Cell Surface; Transcription Factors; Calcium-Binding Proteins; Chromosome Mapping; Chromosomes, Human, Pair 20/genetics; Cloning, Molecular; Exons/genetics; Female; Frameshift Mutation; Gene Expression; Humans; Intercellular Signaling Peptides and Proteins; Introns/genetics; Jagged-1 Protein; Male; Membrane Proteins/metabolism; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Polymorphism, Single-Stranded Conformational; Receptor, Notch1; Sequence Analysis, DNA; Sequence Deletion; Serrate-Jagged Proteins

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Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Alagille Syndrome / Receptors, Cell Surface / Membrane Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Year: 1997 Document type: Article

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