(Q34192783)

31 July 2017

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

1 reference

31 July 2017

0 references

1 reference

B L Loeys

1

1 reference

31 July 2017

E E Gerber

2

1 reference

31 July 2017

D Riegert-Johnson

3

1 reference

31 July 2017

S Iqbal

4

1 reference

31 July 2017

P Whiteman

5

1 reference

31 July 2017

V McConnell

6

1 reference

31 July 2017

C R Chillakuri

7

1 reference

31 July 2017

D Macaya

8

1 reference

31 July 2017

P J Coucke

9

1 reference

31 July 2017

A De Paepe

10

1 reference

31 July 2017

D P Judge

11

1 reference

31 July 2017

F Wigley

12

1 reference

31 July 2017

E C Davis

13

1 reference

31 July 2017

H J Mardon

14

1 reference

31 July 2017

P Handford

15

1 reference

31 July 2017

D R Keene

16

1 reference

31 July 2017

L Y Sakai

17

1 reference

31 July 2017

H C Dietz

18

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 March 2010

1 reference

Science Translational Medicine

31 July 2017

1 reference

31 July 2017

2

1 reference

31 July 2017

23ra20

1 reference

31 July 2017

23

1 reference

Transforming growth factor beta as a therapeutic target in systemic sclerosis

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Growth factors and cytokines in wound healing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Vascular disease in scleroderma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Fibrillin-integrin interactions in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Integrins and the activation of latent transforming growth factor beta1 - an intimate relationship

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Cellular and molecular mechanisms of fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

The RGD motif in fibronectin is essential for development but dispensable for fibril assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Wound re-epithelialization: modulating keratinocyte migration in wound healing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Keratinocyte-fibroblast interactions in wound healing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Absence of integrin-mediated TGFbeta1 activation in vivo recapitulates the phenotype of TGFbeta1-null mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies of molecular determinants underlying integrin-rgd affinity and specificity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Beta3 integrin and Src facilitate transforming growth factor-beta mediated induction of epithelial-mesenchymal transition in mammary epithelial cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Absence of autoantibodies against correctly folded recombinant fibrillin-1 protein in systemic sclerosis patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

alpha(v)beta(3) Integrin interacts with the transforming growth factor beta (TGFbeta) type II receptor to potentiate the proliferative effects of TGFbeta1 in living human lung fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Regulation of limb patterning by extracellular microfibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Cell surface-localized matrix metalloproteinase-9 proteolytically activates TGF-beta and promotes tumor invasion and angiogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

TGF-beta1 binding protein-like modules of fibrillin-1 and -2 mediate integrin-dependent cell adhesion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Conformation and function of fibrillin 8-cysteine motifs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Cell adhesion and integrin binding to recombinant human fibrillin-1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Stiff skin syndrome: a case report and review of the literature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Bone marrow transplantation in the rat. III. Structure of the liver inflammatory lesion in acute graft-versus-host disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

A new case of Stiff Skin syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Tissue stiffness, latent TGF-beta1 activation, and mechanical signal transduction: implications for the pathogenesis and treatment of fibrosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Increased expression of integrin alpha(v)beta3 contributes to the establishment of autocrine TGF-beta signaling in scleroderma fibroblasts.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype".

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Remodeling of elastic fiber components in scleroderma skin.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Congenital fascial dystrophy: the stiff skin syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953713

28 October 2018

1 reference

12 December 2020

Treatment and transfer of emphysema by a new bone marrow transplantation method from normal mice to Tsk mice and vice versa.

1 reference

12 December 2020

Visceral involvement in stiff skin syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Congenital fascial dystrophy--a noninflammatory disease of fascia: the stiff skin syndrome

1 reference

12 December 2020

Adoptive transfer of tsk skin fibrosis to +/+ recipients by tsk bone marrow and spleen cells

1 reference

12 December 2020

Extracellular microfibrils are increased in localized and systemic scleroderma skin

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

Self Reactive Repertoire of Tight Skin Mouse: Immunochemical and Molecular Characterization of Anti-Topoisomerase I Autoantibodies

1 reference

12 December 2020

[Dysmorphism in Stiff Skin syndrome]

1 reference

12 December 2020

Induction of skin fibrosis and autoantibodies by infusion of immunocompetent cells from tight skin mice into C57BL/6 Pa/Pa mice

1 reference

12 December 2020

Fibrillin: monomers and microfibrils

1 reference

12 December 2020

Cell-type specific recognition of RGD- and non-RGD-containing cell binding domains in fibrillin-1

1 reference

12 December 2020

Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS)

1 reference

12 December 2020

Physiopathogenic Investigations in a Case of Familial Stiff-Skin Syndrome

1 reference

12 December 2020

Spontaneous occurrence of anti-fibrillin-1 autoantibodies in tight-skin mice

1 reference

12 December 2020

Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases

1 reference

12 December 2020

Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome

1 reference

12 December 2020

Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin 1, in patients with localized scleroderma

1 reference

12 December 2020

Clinical images: Stiff skin syndrome

1 reference

12 December 2020

Autoantibodies to fibrillin 1 in systemic sclerosis: ethnic differences in antigen recognition and lack of correlation with specific clinical features or HLA alleles

1 reference

12 December 2020

Congenital fascial dystrophy: abnormal composition of the fascia.

1 reference

12 December 2020

Anti-fibrillin-1 autoantibodies in systemic sclerosis are GM and KM allotype-restricted

1 reference

12 December 2020

Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset

1 reference

12 December 2020

The stiff skin syndrome

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

10.1126/SCITRANSLMED.3000488

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference