(Q42043819)

15 October 2017

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome (English)

1 reference

15 October 2017

M Raghunath

1

1 reference

15 October 2017

C M Kielty

2

1 reference

15 October 2017

K Kainulainen

3

1 reference

15 October 2017

A Child

4

1 reference

15 October 2017

L Peltonen

5

1 reference

15 October 2017

B Steinmann

6

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 September 1994

1 reference

15 October 2017

1 reference

15 October 2017

302 ( Pt 3)

1 reference

15 October 2017

889-896

1 reference

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Microfibrillar elements in the synovial joint: presence of type VI collagen and fibrillin-containing microfibrils

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Microfibrillar assemblies of foetal bovine skin. Developmental expression and relative abundance of type VI collagen and fibrillin.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1137314

Preparation and assay of the intermediate filament proteins desmin and vimentin

17 August 2018

1 reference

12 December 2020

The effect of temperature and ionic strength on the apparent Ca-affinity of EGTA and the analogous Ca-chelators BAPTA and dibromo-BAPTA

1 reference

12 December 2020

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

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

12 December 2020

Isolation and ultrastructural analysis of microfibrillar structures from foetal bovine elastic tissues. Relative abundance and supramolecular architecture of type VI collagen assemblies and fibrillin

1 reference

12 December 2020

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Synthesis and assembly of fibrillin by fibroblasts and smooth muscle cells

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ3020889

1 reference

15 October 2017

1 reference

15 October 2017

1 reference