(Q28748251)

7

object named as

Marc Abramowicz

0 references

Yves Sznajer

2

object named as

Yves Sznajer

0 references

author name string

Fanny Depasse

3

0 references

Françoise Roulez

4

0 references

Marc Schrooyen

5

0 references

Françoise Meire

European Journal of Human Genetics

6

0 references

language of work or name

English

0 references

publication date

July 2010

0 references

published in

0 references

volume

18

0 references

issue

7

0 references

page(s)

761-7

0 references

cites work

Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

The molecular genetics of Marfan syndrome and related disorders

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Ectopia lentis phenotypes and the FBN1 gene

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1

16 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

16 March 2017

https://api.crossref.org/works/10.1038%2FEJHG.2010.11

7 January 2021

inferred from DOI database lookup

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Null mutations in LTBP2 cause primary congenital glaucoma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Gene prioritization through genomic data fusion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Identification and characterization of an eight-cysteine repeat of the latent transforming growth factor-beta binding protein-1 that mediates bonding to the latent transforming growth factor-beta1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Revised diagnostic criteria for the Marfan syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Congenital Marfan syndrome with contractures. A clinicopathological report

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Megalocornea. Clinical and genetic aspects

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

The TGF-beta family of growth and differentiation factors.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987369

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179738

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179738

12 December 2020

inferred from PubMed ID database lookup

[Congenital megalocornea]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20179738

12 December 2020

inferred from PubMed ID database lookup

Revised diagnostic criteria for the Marfan syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.11

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2010.11

1 reference

Dimensions Publication ID

1035243678

0 references

1 reference

1 reference

PubMed publication ID

20179738

1 reference