scholarly journals A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille syndrome) after all

Hepatology ◽  
2015 ◽  
Vol 63 (2) ◽  
pp. 365-367 ◽  
Author(s):  
Stacey S. Huppert
Keyword(s):  
Mouse Model ◽  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia

scholarly journals Leptochoroid in a Case of Alagille Syndrome (Arteriohepatic Dysplasia)

Ophthalmology ◽  
2017 ◽  
Vol 124 (8) ◽  
pp. 1135 ◽  
Author(s):  
Jen-Hsiang Shen ◽  
Kuan-Jen Chen ◽  
Nan-Kai Wang
Keyword(s):  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia

Double resin casting micro computed tomography (CT) reveals biliary and vascular pathology in tandem in a mouse model for alagille syndrome

2020 ◽  
Vol 73 ◽  
pp. S43
Author(s):  
Simona Hankeova ◽  
Jakub Salplachta ◽  
Tomas Zikmund ◽  
Michaela Kavkova ◽  
Noémi K.M. Van Hul ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Mouse Model ◽  
Alagille Syndrome ◽  
Vascular Pathology ◽  
Micro Computed Tomography

Distinct Hepatic Retention of Tc-99m IDA in Arteriohepatic Dysplasia (Alagille Syndrome)

1989 ◽  
Vol 14 (12) ◽  
pp. 874-876 ◽  
Author(s):  
TAMIO ABURANO ◽  
KUNIHIKO YOKOYAMA ◽  
TERUHIKO TAKAYAMA ◽  
NORIHISA TONAMI ◽  
KINICHI HISADA
Keyword(s):  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia

scholarly journals Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations

2018 ◽  
Vol 154 (4) ◽  
pp. 1080-1095 ◽  
Author(s):  
Emma R. Andersson ◽  
Indira V. Chivukula ◽  
Simona Hankeova ◽  
Marika Sjöqvist ◽  
Yat Long Tsoi ◽  
...  
Keyword(s):  
Mouse Model ◽  
Alagille Syndrome ◽  
Missense Mutations

scholarly journals Arteriohepatic Dysplasia (Alagille Syndrome) in a Child (Clinical Case)

2015 ◽  
Vol 0 (2.1.62.1) ◽  
pp. 128-132
Author(s):  
Ye.V. Omelchenko ◽  
A.S. Senatorova ◽  
A.F. Shipko ◽  
A.V. Omelchenko-Seliukova ◽  
M.N. Yermolaiev ◽  
...  
Keyword(s):  
Clinical Case ◽  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia

A mouse model of Alagille syndrome:Notch2as a genetic modifier ofJag1haploinsufficiency

Development ◽  
2002 ◽  
Vol 129 (4) ◽  
pp. 1075-1082 ◽  
Author(s):  
Brent McCright ◽  
Julie Lozier ◽  
Thomas Gridley
Keyword(s):  
Mouse Model ◽  
Kidney Development ◽  
Genetic Modifier ◽  
Phenotypic Expression ◽  
Notch Pathway ◽  
Alagille Syndrome ◽  
Notch Signaling Pathway ◽  
Epithelial Morphogenesis ◽  
Null Alleles ◽  
Developmental Abnormalities

Alagille syndrome is a human autosomal dominant developmental disorder characterized by liver, heart, eye, skeletal, craniofacial and kidney abnormalities. Alagille syndrome is caused by mutations in the Jagged 1 (JAG1) gene, which encodes a ligand for Notch family receptors. The majority of JAG1 mutations seen in Alagille syndrome patients are null alleles, suggesting JAG1 haploinsufficiency as a primary cause of this disorder. Mice homozygous for a Jag1 null mutation die during embryogenesis and Jag1/+ heterozygous mice exhibit eye defects but do not exhibit other phenotypes characteristic of Alagille syndrome patients (Xue, Y., Gao, X., Lindsell, C. E., Norton, C. R., Chang, B., Hicks, C., Gendron-Maguire, M., Rand, E. B., Weinmaster, G. and Gridley, T. (1999) Hum. Mol. Genet.8, 723-730). Here we report that mice doubly heterozygous for the Jag1 null allele and a Notch2 hypomorphic allele exhibit developmental abnormalities characteristic of Alagille syndrome. Double heterozygous mice exhibit jaundice, growth retardation, impaired differentiation of intrahepatic bile ducts and defects in heart, eye and kidney development. The defects in bile duct epithelial cell differentiation and morphogenesis in the double heterozygous mice are similar to defects in epithelial morphogenesis of Notch pathway mutants in Drosophila, suggesting that a role for the Notch signaling pathway in regulating epithelial morphogenesis has been conserved between insects and mammals. This work also demonstrates that the Notch2 and Jag1 mutations interact to create a more representative mouse model of Alagille syndrome and provides a possible explanation of the variable phenotypic expression observed in Alagille syndrome patients.

Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

1990 ◽  
Vol 35 (4) ◽  
pp. 532-535 ◽  
Author(s):  
Eric Legius ◽  
Jean-Pierre Fryns ◽  
Benedict Eyskens ◽  
Ephren Eggermont ◽  
Valeer Desmet ◽  
...  
Keyword(s):  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia

Alagille syndrome (arteriohepatic dysplasia)

1995 ◽  
Vol 130 (6) ◽  
pp. 1317 ◽  
Author(s):  
Giuseppe Santoro ◽  
Roberto Formigari ◽  
Luigi Ballerini
Keyword(s):  
Alagille Syndrome ◽  
Arteriohepatic Dysplasia
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