Mutations in the human Jagged1 gene are responsible for Alagille syndrome
作者： Ian D. Krantz , Anna Genin , David A. Piccoli , Paul S. Meltzer , Nancy B. Spinner
DOI: 10.1038/NG0797-235
关键词:
摘要: … To test this hypothesis, we analysed RT-PCR products from a fibroblast cell line from this proband, using primers in exons 10 and 12 to amplify JAG1 cDNA. In contrast to the genomic …
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N B Spinner, P F Whitington, E B Rand, D A Piccoli, R Taub, Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. American Journal of Human Genetics. ,vol. 57, pp. 1068- 1073 ,(1995)
Takaya Oda, Abdel G. Elkahloun, Paul S. Meltzer, Settara C. Chandrasekharappa, Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. Genomics. ,vol. 43, pp. 376- 379 ,(1997) , 10.1006/GENO.1997.4820
Claire E Lindsell, Carrie J Shawber, Jim Boulter, Gerry Weinmaster, Jagged: A mammalian ligand that activates notch1 Cell. ,vol. 80, pp. 909- 917 ,(1995) , 10.1016/0092-8674(95)90294-5
Susanne Schnittger, Christiane H�fers, Peter Heidemann, Friedrich Beermann, Ingo Hansmann, Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome) Human Genetics. ,vol. 83, pp. 239- 244 ,(1989) , 10.1007/BF00285164
Jeffrey S. Nye, Raphael Kopan, Developmental Signalling: Vertebrate ligands for Notch Current Biology. ,vol. 5, pp. 966- 969 ,(1995) , 10.1016/S0960-9822(95)00189-8
J. L. B. Byrne, M. J. E. Harrod, J. M. Friedman, P. N. Howard-Peebles, John M. Opitz, James F. Reynolds, del(20p) with manifestations of arteriohepatic dysplasia. American Journal of Medical Genetics. ,vol. 24, pp. 673- 678 ,(1986) , 10.1002/AJMG.1320240411
Eric Legius, Jean-Pierre Fryns, Benedict Eyskens, Ephren Eggermont, Valeer Desmet, Guy de Bethune, Herman Van den Berghe, Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) American Journal of Medical Genetics. ,vol. 35, pp. 532- 535 ,(1990) , 10.1002/AJMG.1320350419
Linheng Li, Ian D. Krantz, Yu Deng, Anna Genin, Amy B. Banta, Colin C. Collins, Ming Qi, Barbara J. Trask, Wen Lin Kuo, Joanne Cochran, Teresa Costa, Mary Ella M. Pierpont, Elizabeth B. Rand, David A. Piccoli, Leroy Hood, Nancy B. Spinner, Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nature Genetics. ,vol. 16, pp. 243- 251 ,(1997) , 10.1038/NG0797-243
Carrie Shawber, Jim Boulter, Claire E. Lindsell, Gerry Weinmaster, Jagged2: A Serrate-like Gene Expressed during Rat Embryogenesis Developmental Biology. ,vol. 180, pp. 370- 376 ,(1996) , 10.1006/DBIO.1996.0310
Archibald Garrod, The Lessons OF RARE MALADIES. The Lancet. ,vol. 211, pp. 1055- 1060 ,(1928) , 10.1016/S0140-6736(00)99941-0