(Q42833630)

8 November 2017

title

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

1 reference

8 November 2017

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Corrado Guarnaccia

1

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8 November 2017

Somdutta Dhir

series ordinal

2

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8 November 2017

Alessandro Pintar

series ordinal

3

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8 November 2017

Sándor Pongor

series ordinal

4

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8 November 2017

language of work or name

English

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publication date

23 September 2009

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8 November 2017

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8 November 2017

volume

276

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8 November 2017

issue

21

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8 November 2017

page(s)

6247-6257

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Crossing paths with Notch in the hyper-network

8 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Notch signalling: a simple pathway becomes complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

The multifaceted role of Notch in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Notch and cancer: a double-edged sword

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Notch signaling in cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Notch signaling and inherited disease syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Multiple sclerosis: re-expression of a developmental pathway that restricts oligodendrocyte maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Jagged1 mutations in alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Exon 6 of human Jagged-1 encodes an autonomously folding unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Exon 6 of human JAG1 encodes a conserved structural unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Rate enhancement of the oxidative folding of lysozyme by the use of aromatic thiol containing redox buffers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Evolution of distinct EGF domains with specific functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

O-linked fucose and other post-translational modifications unique to EGF modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Glycosylation regulates Notch signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Regulation of Notch signaling by glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Environment-specific amino acid substitution tables: tertiary templates and prediction of protein folds

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

The amino-acid mutational spectrum of human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Multiple protein sequence alignment from tertiary structure comparison: assignment of global and residue confidence levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Epidermal growth factor-like modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

Accuracy of protein flexibility predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07333.X

10.1111/J.1742-4658.2009.07333.X

21 January 2018

Identifiers

DOI

1 reference

release_bupip3fhfjhutafrmfews73qly

8 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bupip3fhfjhutafrmfews73qly

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference