(Q40552055)

21 September 2017

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. (English)

1 reference

21 September 2017

9

1 reference

21 September 2017

Tillman Vollbrandt

1

1 reference

21 September 2017

Kerstin Tiedemann

2

1 reference

21 September 2017

Ehab El-Hallous

3

1 reference

21 September 2017

Guoqing Lin

4

1 reference

21 September 2017

Jürgen Brinckmann

5

1 reference

21 September 2017

Harald John

6

1 reference

21 September 2017

Boris Bätge

7

1 reference

21 September 2017

Holger Notbohm

8

1 reference

21 September 2017

language of work or name

English

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publication date

25 May 2004

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Journal of Biological Chemistry

21 September 2017

8

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based on heuristic

inferred from page(s)

published in

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21 September 2017

279

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21 September 2017

31

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21 September 2017

32924-32931

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Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

21 September 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Epidermal growth factor-like modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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/10.1074%2FJBC.M405239200

Calcium stabilizes fibrillin-1 against proteolytic degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Genetic disorders of the elastic fiber system

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Molecular analysis of eight mutations in FBN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

The molecular pathogenesis of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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/10.1074%2FJBC.M405239200

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Fibrillin-1: organization in microfibrils and structural properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

High-efficiency transformation of mammalian cells by plasmid DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Binding of fibulin-1 to nidogen depends on its C-terminal globular domain and a specific array of calcium-binding epidermal growth factor-like (EG) modules

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

Partial sequence of a candidate gene for the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405239200

21 January 2018

Identifiers

DOI

10.1074/JBC.M405239200

1 reference

21 September 2017

1 reference