(Q36328488)

13 August 2017

New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse (English)

1 reference

13 August 2017

B Gayraud

1

1 reference

13 August 2017

D R Keene

series ordinal

2

1 reference

13 August 2017

L Y Sakai

series ordinal

3

1 reference

13 August 2017

F Ramirez

series ordinal

4

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 August 2000

1 reference

13 August 2017

Journal of Cell Biology

1 reference

13 August 2017

150

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13 August 2017

667-680

1 reference

13 August 2017

3

1 reference

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Marfan syndrome: new clues to genotype-phenotype correlations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Fibrillln mutations in Marfan syndrome and related phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Fibrillin-1: organization in microfibrils and structural properties

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Marfan's syndrome and other microfibrillar diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Animal models of fibrosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Type VII collagen is a major structural component of anchoring fibrils

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

An analysis by rotary shadowing of the structure of the mammalian vitreous humor and zonular apparatus

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

Calcium stabilizes fibrillin-1 against proteolytic degradation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2175205

A 16-month study of the development of genetic emphysema in tight-skin mice

22 September 2018

1 reference

12 December 2020

Human bone contains type III collagen, type VI collagen, and fibrillin: type III collagen is present on specific fibers that may mediate attachment of tendons, ligaments, and periosteum to calcified bone cortex

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

Characterization of a 50-kDa component of epithelial basement membranes using GDA-J/F3 monoclonal antibody

1 reference

12 December 2020

B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene

1 reference

12 December 2020

Scleroderma-like alterations in collagen metabolism occurring in the TSK (tight skin) mouse

1 reference

12 December 2020

Identifiers

DOI

10.1083/JCB.150.3.667

1 reference

13 August 2017

1 reference

13 August 2017

1 reference