(Q24309460)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

Jagged canonical Notch ligand 1

1 February 2020

main subject

patient

0 references

1 reference

Notch signaling involved in heart development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

1 reference

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

12

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Robert C Bauer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Ayanna O Laney

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Rosemarie Smith

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jennifer Gerfen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jennifer J D Morrissette

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Stacy Woyciechowski

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Jennifer Garbarini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Kathleen M Loomes

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Ian D Krantz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Bruce D Gelb

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Nancy B Spinner

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

English

0 references

publication date

1 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

594-601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Notch signaling: cell fate control and signal integration in development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

The canonical Notch signaling pathway: unfolding the activation mechanism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Notch signaling in cardiac development and disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Role of conserved intracellular motifs in Serrate signalling, cis-inhibition and endocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Consequences of JAG1 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Notch signaling and inherited disease syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

An update on conformation sensitive gel electrophoresis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Alagille syndrome. The widening spectrum of arteriohepatic dysplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Jagged1 mutations in alagille syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Superinduction of cytochrome P1-450 gene transcription by inhibition of protein synthesis in wild type and variant mouse hepatoma cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

Conotruncal malformation complex: examples of possible monogenic inheritance

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914103

The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia

30 May 2018

1 reference

12 December 2020

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

1 reference

12 December 2020

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

1 reference

12 December 2020

Tetralogy of Fallot with pulmonary atresia in siblings

1 reference

12 December 2020

Familial risk of congenital heart defect

1 reference

12 December 2020

Tetralogy of Fallot in three sibs

1 reference

12 December 2020

Tetralogy of Fallot in triplet siblings

1 reference

12 December 2020

Jagged1 mutations in patients ascertained with isolated congenital heart defects

1 reference

12 December 2020

Notch, a universal arbiter of cell fate decisions

1 reference

12 December 2020

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20437614%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PubMed publication ID

20437614

1 reference