(Q22065344)

2

0 references

Douglas R. Keene

3

0 references

Jessica Geubtner

4

author given names

Jessica

author last names

Geubtner

1 reference

PubMed publication ID

15254584

7 February 2023

Loretha Myers

5

author given names

Loretha

author last names

Myers

1 reference

PubMed publication ID

15254584

7 February 2023

David L. Huso

6

0 references

Lynn Y. Sakai

7

0 references

Harry C. Dietz

8

0 references

Daniel P Judge

1

0 references

Nancy J Biery

2

0 references

Douglas R Keene

3

0 references

David L Huso

6

0 references

Lynn Y Sakai

7

0 references

Harry C Dietz

Journal of Clinical Investigation

8

0 references

language of work or name

English

0 references

publication date

15 July 2004

0 references

July 2004

0 references

published in

0 references

volume

114

0 references

issue

2

0 references

page(s)

172-181

0 references

172-81

0 references

cites work

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Detection of specific sequences among DNA fragments separated by gel electrophoresis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Interactions of fibrillin-1 with heparin/heparan sulfate, implications for microfibrillar assembly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Fibrillin degradation by matrix metalloproteinases: identification of amino- and carboxy-terminal cleavage sites

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Nonsense-mediated mRNA decay in health and disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Marfan Database (third edition): new mutations and new routines for the software

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Ascertainment and severity of Marfan syndrome in a Scottish population

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Yeast kar1 mutants provide an effective method for YAC transfer to new hosts

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Marfan syndrome. Demonstration of abnormal elastin in aorta

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

The fine structure of elastic fibers

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

High-efficiency yeast artificial chromosome fragmentation vectors.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Fibrillin-1: organization in microfibrils and structural properties

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

The supramolecular organization of fibrillin-rich microfibrils.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Use of agar in ophthalmic pathology: a technique to improve the handling and diagnosis of temporal artery biopsies, subfoveal membranes, lens capsules, and other ocular tissues

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Molecular analysis of eight mutations in FBN1.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Calcium stabilizes fibrillin-1 against proteolytic degradation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Life expectancy in the Marfan syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=449744

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

29 November 2018

1 reference

12 December 2020

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly

1 reference

12 December 2020

Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome

1 reference

12 December 2020

FBN1 exon 2 splicing error in a patient with Marfan syndrome

1 reference

12 December 2020

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts

1 reference

12 December 2020

Fibrillin: monomers and microfibrils

1 reference

12 December 2020

The question of heterogeneity in Marfan syndrome

1 reference

12 December 2020

Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI20641

1 reference

2322214

10.1172/JCI200420641

1 reference

2322214

1 reference

2322214

1 reference

1 reference

PubMed publication ID

15254584

1 reference