In vivo studies of mutant fibrillin-1 microfibrils (Q30495864)

16 October 2017

In vivo studies of mutant fibrillin-1 microfibrils (English)

1 reference

16 October 2017

Noe L Charbonneau

1

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16 October 2017

Eric J Carlson

2

1 reference

16 October 2017

Sara Tufa

3

1 reference

16 October 2017

Gerhard Sengle

4

1 reference

16 October 2017

Elise C Manalo

5

1 reference

16 October 2017

Valerie M Carlberg

6

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16 October 2017

Francesco Ramirez

7

1 reference

16 October 2017

Douglas R Keene

8

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16 October 2017

Lynn Y Sakai

9

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16 October 2017

language of work or name

English

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publication date

7 June 2010

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Journal of Biological Chemistry

16 October 2017

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16 October 2017

285

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16 October 2017

32

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16 October 2017

24943-24955

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Microfibril structure masks fibrillin-2 in postnatal tissues

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Targeting of bone morphogenetic protein growth factor complexes to fibrillin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Fibrillins 1 and 2 perform partially overlapping functions during aortic development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Regulation of limb patterning by extracellular microfibrils

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Extracellular matrix of the human aortic media: an ultrastructural histochemical and immunohistochemical study of the adult aortic media

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Fibrillin-1: organization in microfibrils and structural properties

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2915730

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

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M110.130021

Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M110.130021

Effects of fibrillin-1 degradation on microfibril ultrastructure.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M110.130021

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

21 January 2018

1 reference

12 December 2020

Fibrillin: monomers and microfibrils

1 reference

12 December 2020

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation

1 reference

12 December 2020

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

1 reference

12 December 2020

Calcium determines the shape of fibrillin

1 reference

12 December 2020

Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M110.130021

1 reference

16 October 2017

1 reference

16 October 2017

1 reference