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Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

author

Milan Jirsa

published in: PLOS One

date of publication: 2015-11-30

language: English

main subject: Alagille syndrome, biliary atresia

Cites articles 20

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PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations

Jaroslav Bendl, Jan Brezovský, Jiří Damborský, Jan Stourac
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Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene

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JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

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Effect of Kasai procedure on hepatic outcome in Alagille syndrome
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CFC1 gene involvement in biliary atresia with polysplenia syndrome

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Analysis of liver repair mechanisms in Alagille syndrome and biliary atresia reveals a role for notch signaling

Massimiliano Cadamuro, Michele Colledan
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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
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Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia
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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

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Article - wd:Q35855617

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