(Q42660234)

4 November 2017

Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects (English)

1 reference

4 November 2017

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C M Kielty

1

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4 November 2017

S J Davies

2

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4 November 2017

J E Phillips

3

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4 November 2017

C J Jones

4

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4 November 2017

C A Shuttleworth

5

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4 November 2017

S J Charles

6

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4 November 2017

language of work or name

English

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publication date

1 January 1995

1 reference

Journal of Medical Genetics

4 November 2017

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4 November 2017

32

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4 November 2017

1

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4 November 2017

1-6

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

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

Rotary shadowing of elastic system microfibrils in the ocular zonule, vitreous, and ligamentum nuchae

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

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=1050170

Vitreous humor of chicken contains two fibrillar systems: an analysis of their structure.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050170

16 August 2018

1 reference

12 December 2020

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts

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 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

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

12 December 2020

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome

1 reference

12 December 2020

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

1 reference

12 December 2020

Immunization with undenatured bovine zonular fibrils results in monoclonal antibodies to fibrillin

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.1.1

1 reference

release_dwv4cc2ap5hetpzhqqdb6svyki

4 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dwv4cc2ap5hetpzhqqdb6svyki

24 November 2022

mapped directly with Wikidata item

1 reference

4 November 2017

1 reference