(Q33905006)

29 July 2017

0 references

Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage (English)

1 reference

29 July 2017

Fengmin Lu

1

1 reference

29 July 2017

Jennifer J D Morrissette

series ordinal

2

1 reference

29 July 2017

Nancy B Spinner

series ordinal

3

1 reference

29 July 2017

language of work or name

English

0 references

publication date

14 March 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

volume

72

1 reference

29 July 2017

issue

4

1 reference

29 July 2017

page(s)

1065-1070

1 reference

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Jagged1 mutations in alagille syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Conformational and temperature-sensitive stability defects of the delta F508 cystic fibrosis transmembrane conductance regulator in post-endoplasmic reticulum compartments.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Notch signaling: a dance of proteins changing partners

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Notch signaling: cell fate control and signal integration in development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Truncated mammalian Notch1 activates CBF1/RBPJk-repressed genes by a mechanism resembling that of Epstein-Barr virus EBNA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Jagged: A mammalian ligand that activates notch1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Alagille syndrome: family studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Arteriohepatic dysplasia: Familial pulmonary arterial stenosis with neonatal liver disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Advanced mammalian gene transfer: high titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Conditional inhibition of transformation and of cell proliferation by a temperature-sensitive mutant of p53.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Four generations of arteriohepatic dysplasia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180339

Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12649809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Arteriohepatic dysplasia and cardiovascular malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12649809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12649809

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/374386

1 reference

29 July 2017

1 reference

29 July 2017

1 reference