Mutations in the human Jagged1 gene are responsible for Alagille syndrome (Q24314702)

Notch signaling involved in heart development

GOA release 2020-03-11

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GOA release 2020-03-11

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10

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author name string

T Oda

1

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A G Elkahloun

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B L Pike

3

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K Okajima

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I D Krantz

5

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A Genin

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D A Piccoli

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P S Meltzer

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N B Spinner

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S C Chandrasekharappa

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

11

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language of work or name

English

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publication date

July 1997

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published in

Nature Genetics

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volume

16

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issue

3

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page(s)

235-42

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cites work

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TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

20 April 2017

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Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

20 April 2017

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Jagged2: a serrate-like gene expressed during rat embryogenesis

20 April 2017

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Expression patterns of Jagged, Delta1, Notch1, Notch2, and Notch3 genes identify ligand-receptor pairs that may function in neural development

20 April 2017

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Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

20 April 2017

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7 January 2021

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

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7 January 2021

Studies of the aetiology of neonatal hepatitis and biliary atresia

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Segregation analysis of Alagille syndrome

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Alagille syndrome: family studies

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Del(20p) with manifestations of arteriohepatic dysplasia

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Alagille syndrome and deletion of 20p.

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7 January 2021

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

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7 January 2021

Alagille syndrome with de Novo del(20) (p 11.2)

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Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients

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7 January 2021

Outcome of Sturge‐Weber syndrome in 52 adults

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Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.

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7 January 2021

Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)

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7 January 2021

Screening of microdeletions of chromosome 20 in patients with Alagille syndrome

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7 January 2021

Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes

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7 January 2021

The choice of cell fate in the epidermis of Drosophila.

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7 January 2021

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7 January 2021

Developmental signaling. Vertebrate ligands for Notch.

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7 January 2021

https://api.crossref.org/works/10.1038%2FNG0797-235

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7 January 2021

Jagged: A mammalian ligand that activates notch1

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7 January 2021

The expression and function of Notch pathway genes in the developing rat eye

1 reference

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7 January 2021

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7 January 2021