(Q27335289)

1

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Ko Tsutsui

2

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Douglas R Keene

3

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Sara F Tufa

4

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Eric J Carlson

5

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Noe L Charbonneau

6

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Robert N Ono

7

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Takako Sasaki

8

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Mary K Wirtz

9

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John R Samples

10

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Liselotte I Fessler

11

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John H Fessler

12

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Kiyotoshi Sekiguchi

13

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Susan J Hayflick

14

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Lynn Y Sakai

Creative Commons Attribution 4.0 International

15

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language of work or name

English

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publication date

January 2012

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published in

PLOS Genetics

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volume

8

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issue

1

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page(s)

e1002425

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copyright license

start time

5 January 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Latent TGF-β structure and activation

1 reference

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ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts

21 March 2017

1 reference

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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

21 March 2017

1 reference

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

21 March 2017

1 reference

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ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

21 March 2017

1 reference

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

21 March 2017

1 reference

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 March 2017

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

21 March 2017

1 reference

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Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

21 March 2017

1 reference

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Targeting of bone morphogenetic protein growth factor complexes to fibrillin

21 March 2017

1 reference

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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

21 March 2017

1 reference

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Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

21 March 2017

1 reference

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ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

RGD and other recognition sequences for integrins

7 April 2017

1 reference

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

In vivo studies of mutant fibrillin-1 microfibrils

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

29 September 2017

1 reference

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Of extracellular matrix, scaffolds, and signaling: tissue architecture regulates development, homeostasis, and cancer.

29 September 2017

1 reference

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Fibrillins 1 and 2 perform partially overlapping functions during aortic development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Animal models for osteoporosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Integrins and vascular extracellular matrix assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

2 June 2018

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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

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002425

Temporal analysis of rat growth plates: cessation of growth with age despite presence of a physis.

21 January 2018

1 reference

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002425

Effects of fibrillin-1 degradation on microfibril ultrastructure.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3252277

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

27 November 2018

1 reference

12 December 2020

Extracellular microfibrils are increased in localized and systemic scleroderma skin

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

Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002425

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

22242013

1 reference