Jagged1 mutations in Alagille syndrome

Human Mutation

Volumn 17, Issue 1, 2001, Pages 18-33

  Spinner, Nancy B ^a,c   Colliton, Raymond P ^a   Crosnier, Cécile ^b   Krantz, Ian D ^a   Hadchouel, Michelle ^b   Meunier Rotival, Michèle ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CNRS   (France)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

AGS; Alagille syndrome; CADASIL; Developmental disorder; JAG1; Jagged1; Notch signaling pathway

Indexed keywords

CELL SURFACE PROTEIN; GENE PRODUCT; JAGGED1; NOTCH RECEPTOR; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ALAGILLE SYNDROME; ARTICLE; DEVELOPMENTAL DISORDER; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEFECT; RNA SPLICING; STOP CODON;

ALAGILLE SYNDROME; ANIMALS; CALCIUM-BINDING PROTEINS; DISEASES IN TWINS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTATION; PROTEINS; TWINS, DIZYGOTIC;

EID: 0035173811     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T     Document Type: Article

References (35)

1. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur
2. Notch signaling: Cell fate control and signal integration in development
3. Mutations in the human Delta homologue, DLL3 cause axial skeletal defects in spondylocostal dysostosis
4. Del (20p) with manifestations of arteriohepatic dysplasia
5. Epidermal growth factor-like modules
6. Mutation analysis of Jagged1 (JAG1)
7. Analysis of mutations of the Jagged1 gene in patients with Alagille syndrome: Evidence for most cases being sporadic
8. Alagille syndrome: The widening spectrum of arteriohepatic dysplasia
9. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome
10. Novel mutations in the JAGGED1 gene of patients with Alagille syndrome. Mutation in Brief #385 (Online)
11. The most common Jagged1 missense mutation in Alagille syndrome (R184?) causes alterations in Jagged1 glycosylation
12. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis
13. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
14. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
15. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
16. Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization
17. Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families
18. Jagged1 mutations in patients ascertained with isolated congenital heart defects
19. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
20. Jagged: A mammalian ligand that activates Notch1
21. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
22. Hepatic Jagged1 expression studies
23. Phenotype analysis in patients with a JAGGED1 mutation
24. Mouse Serrate-1 (Jagged-I): Expression in the developing tooth is regulated by epithelial-mesenchymal inter-actions and fibroblast growth factor-4
25. Mutations in the human Jagged1 gene are responsible for Alagille syndrome
26. Genetic alterations in the JAG1 gene in Japanesse patients with Alagille syndrome
27. Jagged-1 mutation analysis in Italian Alagille syndrome patients
28. Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome
29. Mouse Jagged1 physically interacts with Notch2 and other Notch receptors: Assessment by quantitative methods
30. Arteriohepatic dysplasia (Alagille syndrome): Extreme variability among affected family members
31. Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies
32. Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease
33. A Non-transmembrane form of Jagged-1 regulates the formation of matrix dependent chord-like structures
34. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1
35. Mutational analysis of the Jagged1 gene in Alagille syndrome families