NOTCH2 mutations in Alagille syndrome (Q39419524)

11 September 2017

NOTCH2 mutations in Alagille syndrome (English)

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11 September 2017

Gideon M. Hirschfield

8

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11 September 2017

6

Anne Hutchinson

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11 September 2017

Binita Maya Kamath

1

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11 September 2017

Robert C Bauer

2

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11 September 2017

Kathleen M Loomes

3

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11 September 2017

Grace Chao

4

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11 September 2017

Jennifer Gerfen

5

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11 September 2017

Winita Hardikar

7

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11 September 2017

Paloma Jara

9

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11 September 2017

Ian D Krantz

10

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11 September 2017

Pablo Lapunzina

11

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11 September 2017

Laura Leonard

12

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11 September 2017

Simon Ling

13

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11 September 2017

Vicky Lee Ng

14

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11 September 2017

Phuc Le Hoang

15

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11 September 2017

David A Piccoli

16

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11 September 2017

Nancy Bettina Spinner

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11 September 2017

language of work or name

English

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publication date

29 December 2011

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Journal of Medical Genetics

11 September 2017

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11 September 2017

49

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11 September 2017

2

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11 September 2017

138-144

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Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Structural and mechanistic insights into cooperative assembly of dimeric Notch transcription complexes

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Mutations in NOTCH1 cause aortic valve disease

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Consequences of JAG1 mutations

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Notch signaling and inherited disease syndromes

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Jagged1 mutations in alagille syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Variable morbidity in alagille syndrome: a review of 43 cases

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Renal histopathology in Alagille's syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Familial stenosis of the pulmonary artery branches with a JAG1 mutation.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3682659

Renal abnormalities in arteriohepatic dysplasia and nonsyndromic intrahepatic biliary hypoplasia

21 August 2018

1 reference

12 December 2020

Renovascular hypertension and vascular anomalies in Alagille syndrome

1 reference

12 December 2020

Thalidomide suppressed IL-1beta while enhancing TNF-alpha and IL-10, when cells in whole blood were stimulated with lipopolysaccharide

1 reference

12 December 2020

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

1 reference

12 December 2020

10.1136/JMEDGENET-2011-100544

Identifiers

DOI

1 reference

release_wcandhwsivaxlnai4powe7ovk4

11 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wcandhwsivaxlnai4powe7ovk4

24 November 2022

mapped directly with Wikidata item

1 reference

11 September 2017

PubMed publication ID

22209762

1 reference