(Q34234444)

English

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

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Europe PubMed Central

PubMed publication ID

31 July 2017

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

0 references

Marfan syndrome

1 reference

based on heuristic

inferred from title

author name string

T Aoyama

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

U Francke

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

H C Dietz

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

H Furthmayr

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

1 July 1994

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

31 July 2017

94

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Europe PubMed Central

PubMed publication ID

31 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

130-137

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Emilin, a component of elastic fibers preferentially located at the elastin-microfibrils interface

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

Functional inactivation of genes by dominant negative mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

Characterization of an associated microfibril protein through recombinant DNA techniques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

The Marfan Syndrome: Diagnosis and Management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

28 July 2018

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

28 October 2018

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296290

28 October 2018

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The immunohistochemical localisation of microfibril-associated glycoprotein (MAGP) in elastic and non-elastic tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thrombospondin: a component of microfibrils in various tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elastin-associated microfibrils (10 nm) in a three-dimensional fibroblast culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040255

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117298

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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