Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome (Q28142606)

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C Driancourt

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N Raynaud

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S Dhorne-Pollet

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O Bernard

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M Hadchouel

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M Meunier-Rotival

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

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language of work or name

English

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publication date

May 1999

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published in

Gastroenterology

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volume

116

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issue

5

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page(s)

1141-8

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cites work

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Studies of the aetiology of neonatal hepatitis and biliary atresia

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

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Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)

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Alagille syndrome and deletion of 20p.

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Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

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

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The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1

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

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Jagged: a mammalian ligand that activates Notch1

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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

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

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Mutational analysis of the Jagged 1 gene in Alagille syndrome families

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A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

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Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization

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Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency

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Limitations in the use of SSCP analysis

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10.1016/S0016-5085(99)70017-X

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

350962

350962

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference