Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome (Q41482827)

1 October 2017

Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome (English)

1 reference

1 October 2017

C M Kielty

1

1 reference

PMCID

2119967

1 October 2017

C A Shuttleworth

series ordinal

2

1 reference

PMCID

2119967

1 October 2017

language of work or name

English

0 references

publication date

1 March 1994

1 reference

1 October 2017

Journal of Cell Biology

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1 October 2017

124

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1 October 2017

6

1 reference

1 October 2017

997-1004

1 reference

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Elastin-Associated Microfibrils and Microfibrillar Proteins

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Key residues involved in calcium-binding motifs in EGF-like domains

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Complementary DNA cloning establishes microfibril-associated glycoprotein (MAGP) to be a discrete component of the elastin-associated microfibrils

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Molecular composition of type VI collagen. Evidence for chain heterogeneity in mammalian tissues and cultured cells

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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

11 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

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=2119967

Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2119967

Rotary shadowing of collagen monomers, oligomers, and fibrils during tendon fibrillogenesis

19 August 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

Partial sequence of a candidate gene for the Marfan syndrome

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

The role of calcium in the organization of fibrillin microfibrils

1 reference

12 December 2020

Synthesis and assembly of fibrillin by fibroblasts and smooth muscle cells

1 reference

12 December 2020

Microfibrillar components in dental pulp: presence of both type VI collagen- and fibrillin-containing microfibrils

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

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

12 December 2020

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

12 December 2020

Identifiers

DOI

10.1083/JCB.124.6.997

1 reference

1 October 2017

1 reference

1 October 2017

1 reference

PMCID

2119967