Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome (Q40886617)

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English	Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome	scientific article

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Europe PubMed Central

PubMed publication ID

24 September 2017

Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome (English)

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Europe PubMed Central

PubMed publication ID

24 September 2017

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D P Reinhardt

1

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Europe PubMed Central

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24 September 2017

R N Ono

2

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Europe PubMed Central

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24 September 2017

H Notbohm

3

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Europe PubMed Central

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24 September 2017

P K Müller

4

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Europe PubMed Central

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24 September 2017

H P Bächinger

5

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Europe PubMed Central

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24 September 2017

L Y Sakai

6

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24 September 2017

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publication date

1 April 2000

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Europe PubMed Central

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24 September 2017

Journal of Biological Chemistry

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24 September 2017

275

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24 September 2017

16

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Europe PubMed Central

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24 September 2017

12339-12345

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Epidermal growth factor-like modules

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Key residues involved in calcium-binding motifs in EGF-like domains

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Fibrillin-1: organization in microfibrils and structural properties

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Calcium binding to tandem repeats of EGF-like modules. Expression and characterization of the EGF-like modules of human Notch-1 implicated in receptor-ligand interactions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Calcium stabilizes fibrillin-1 against proteolytic degradation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Marfan Database (third edition): new mutations and new routines for the software

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Haemophilia B: database of point mutations and short additions and deletions--eighth edition

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Low nidogen affinity of laminin-5 can be attributed to two serine residues in EGF-like motif gamma 2III4.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Fibrillin-1 in human cartilage: developmental expression and formation of special banded fibers.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

Fibrillin domain folding and calcium binding: significance to Marfan syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.275.16.12339

21 January 2018

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10.1074/JBC.275.16.12339

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Europe PubMed Central

PubMed publication ID

24 September 2017

release_4psvdnmievazvhbkwjzn2lx6yq

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https://api.fatcat.wiki/v0/release/4psvdnmievazvhbkwjzn2lx6yq

24 November 2022

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Europe PubMed Central

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24 September 2017

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