Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome (Q34388195)

1 August 2017

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome (English)

1 reference

1 August 2017

R A Montgomery

1

1 reference

1 August 2017

M T Geraghty

2

1 reference

1 August 2017

E Bull

3

1 reference

1 August 2017

B D Gelb

4

1 reference

1 August 2017

M Johnson

5

1 reference

1 August 2017

I McIntosh

6

1 reference

1 August 2017

C A Francomano

7

1 reference

1 August 2017

H C Dietz

8

1 reference

1 August 2017

language of work or name

English

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publication date

1 December 1998

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

63

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1 August 2017

6

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1 August 2017

1703-1711

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Revised diagnostic criteria for the Marfan syndrome

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Primary structure and developmental expression of Fbn-1, the mouse fibrillin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

How an epidermal growth factor (EGF)-like domain binds calcium. High resolution NMR structure of the calcium form of the NH2-terminal EGF-like domain in coagulation factor X.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Calcium stabilizes fibrillin-1 against proteolytic degradation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377642

Calcium determines the shape of fibrillin

27 October 2018

1 reference

12 December 2020

Fibrillin domain folding and calcium binding: significance to Marfan syndrome

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

The role of calcium in the organization of fibrillin microfibrils

1 reference

12 December 2020

Identifiers

DOI

10.1086/302144

1 reference

release_5knwntejefe67krxmqxdtrydvi

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5knwntejefe67krxmqxdtrydvi

24 November 2022

mapped directly with Wikidata item

PMCID

1377642

1 reference

1 August 2017

1 reference