(Q28142766)

2

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R P Colliton

3

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A Genin

4

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N B Spinner

5

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G J Anderson

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases

6

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language of work or name

English

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publication date

November 2000

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published in

Human Mutation

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volume

16

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issue

5

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page(s)

408-16

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Studies of the aetiology of neonatal hepatitis and biliary atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Alagille syndrome: family studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

An intrinsic dominant negative activity of serrate that is modulated during wing development in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Jagged: a mammalian ligand that activates Notch1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Jagged-1 mutation analysis in Italian Alagille syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Calcium binding to tandem repeats of EGF-like modules. Expression and characterization of the EGF-like modules of human Notch-1 implicated in receptor-ligand interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9

Mutational analysis of the Jagged 1 gene in Alagille syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200011%2916%3A5%3C408%3A%3AAID-HUMU5%3E3.0.CO%3B2-9