(Q52572821)

English

Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.

scientific article published on 10 August 2006

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scholarly article

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28 December 2019

Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16905551%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Kieran T Mellody

1

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28 December 2019

3

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28 December 2019

author name string

Lyle J Freeman

2

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28 December 2019

Thomas A Jowitt

4

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28 December 2019

Veronique Siegler

5

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28 December 2019

Bertrand D E Raynal

6

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28 December 2019

Stuart A Cain

7

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28 December 2019

Tim J Wess

8

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28 December 2019

C Adrian Shuttleworth

9

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28 December 2019

Cay M Kielty

10

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28 December 2019

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publication date

10 August 2006

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28 December 2019

number of pages

9

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based on heuristic

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Journal of Biological Chemistry

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28 December 2019

281

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28 December 2019

31854-31862

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28 December 2019

42

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28 December 2019

Fibrillin microfibrils

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Fibrillin and the eye.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Ligand requirements for Ca2+ binding to EGF-like domains

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

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.M602743200

21 January 2018

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

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.M602743200

21 January 2018

The supramolecular organization of fibrillin-rich microfibrils.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

The molecular pathogenesis of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Mouse models of genetic diseases resulting from mutations in elastic fiber proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

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.M602743200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Molecular basis of elastic fiber formation. Critical interactions and a tropoelastin-fibrillin-1 cross-link.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

SWISS-MODEL: An automated protein homology-modeling server

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Estimation of protein secondary structure from circular dichroism spectra: comparison of CONTIN, SELCON, and CDSSTR methods with an expanded reference set

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

DICHROWEB, an online server for protein secondary structure analyses from circular dichroism spectroscopic data

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Calculation of hydrodynamic properties of globular proteins from their atomic-level structure

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Determination of domain structure of proteins from X-ray solution scattering

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Restoring low resolution structure of biological macromolecules from solution scattering using simulated annealing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Low resolution structure determination shows procollagen C-proteinase enhancer to be an elongated multidomain glycoprotein.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Conformation of full-length Bruton tyrosine kinase (Btk) from synchrotron X-ray solution scattering.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Low resolution solution structure of the Apo form of Escherichia coli haemoglobin protease Hbp.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Size-Distribution Analysis of Macromolecules by Sedimentation Velocity Ultracentrifugation and Lamm Equation Modeling

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Fibrillin-rich microfibrils of the extracellular matrix: ultrastructure and assembly

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Nanostructure of fibrillin-1 reveals compact conformation of EGF arrays and mechanism for extensibility.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

GENETIC FIBRILLINOPATHIES : NEW INSIGHTS IN MOLECULAR DIAGNOSIS AND CLINICAL MANAGEMENT

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

PRIMUS: a Windows PC-based system for small-angle scattering data analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M602743200

21 January 2018

Identifiers

10.1074/JBC.M602743200

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16905551%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16905551%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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