(Q34119231)

31 July 2017

1 reference

title

Jagged1 mutations in alagille syndrome (English)

1 reference

31 July 2017

N B Spinner

1

1 reference

31 July 2017

R P Colliton

2

1 reference

31 July 2017

C Crosnier

3

1 reference

31 July 2017

I D Krantz

4

1 reference

31 July 2017

M Hadchouel

5

1 reference

31 July 2017

M Meunier-Rotival

6

1 reference

31 July 2017

1 January 2001

1 reference

31 July 2017

1 reference

31 July 2017

17

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31 July 2017

18-33

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31 July 2017

1

1 reference

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

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Notch signaling: cell fate control and signal integration in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Del(20p) with manifestations of arteriohepatic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Epidermal growth factor-like modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Features of Alagille syndrome in 92 patients: frequency and relation to prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

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%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

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%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Jagged: a mammalian ligand that activates Notch1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Hepatic jagged1 expression studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

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%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Jagged-1 mutation analysis in Italian Alagille syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

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%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

A non-transmembrane form of Jagged-1 regulates the formation of matrix-dependent chord-like structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

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%282001%2917%3A1%3C18%3A%3AAID-HUMU3%3E3.0.CO%3B2-T

10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference