(Q35596012)

9 August 2017

title

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

1 reference

9 August 2017

0 references

1 reference

D. M. Milewicz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

10 November 2022

R. E. Pyeritz

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

10 November 2022

E. S. Crawford

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

10 November 2022

P. H. Byers

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

10 November 2022

language of work or name

English

0 references

publication date

1 January 1992

1 reference

full work available at URL

9 August 2017

https://europepmc.org/articles/PMC442822

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

https://europepmc.org/articles/PMC442822?pdf=render

10 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1729284

Journal of Clinical Investigation

10 November 2022

published in

1 reference

9 August 2017

volume

89

1 reference

9 August 2017

issue

1

1 reference

9 August 2017

page(s)

79-86

1 reference

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Elastin-Associated Microfibrils and Microfibrillar Proteins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

The elastic fiber. I. The separation and partial characterization of its macromolecular components

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Synthesis and degradation of hyaluronic acid in the cultured fibroblasts of Marfan's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

The fine structure of the ciliary zonule and ciliary epithelium. With special regard to the organization and insertion of the zonular fibrils.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Variants of human tissue-type plasminogen activator that lack specific structural domains of the heavy chain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Linkage analysis in Marfan syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Oxytalan, Elaunin, And Elastic Fibers In The Human Skin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

The Marfan Syndrome: Diagnosis and Management

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442822

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

27 July 2018

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Immunohistochemical comparison of ocular zonules and the microfibrils of elastic tissue

1 reference

12 December 2020

Cell-free synthesis of hyaluronic acid in Marfan syndrome

1 reference

12 December 2020

Acid mucopolysaccharides in cultured human fibroblasts

1 reference

12 December 2020

Life Expectancy and Causes of Death in the Marfan Syndrome

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

12 December 2020

The microfibrils of connective tissue: I. Ultrastructure

1 reference

12 December 2020

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum

1 reference

12 December 2020

Marfan's syndrome: structural, biochemical, and mechanical studies of the aortic media

1 reference

12 December 2020

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

1 reference

12 December 2020

Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients

1 reference

12 December 2020

The spectrum of beta-thalassemia genes in China and Southeast Asia

1 reference

12 December 2020

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

12 December 2020

Biosynthesis, processing, and secretion of M and Z variant human alpha 1-antitrypsin

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI115589

1 reference

9 August 2017

1 reference

9 August 2017

1 reference