Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons (Q35643503)

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21 October 2019

title

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

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21 October 2019

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DNA mutational analysis

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18 June 2024

author name string

G. Nijbroek

1

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18 June 2024

S. Sood

2

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18 June 2024

I. McIntosh

3

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18 June 2024

C. A. Francomano

4

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18 June 2024

E. Bull

5

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18 June 2024

L. Pereira

6

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18 June 2024

F. Ramirez

7

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18 June 2024

R. E. Pyeritz

8

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18 June 2024

H. C. Dietz

9

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18 June 2024

language of work or name

English

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publication date

1 July 1995

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full work available at URL

21 October 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611299/pdf/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7611299/?tool=EBI

18 June 2024

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https://europepmc.org/articles/PMC1801235

18 June 2024

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https://europepmc.org/articles/PMC1801235?pdf=render

18 June 2024

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American Journal of Human Genetics

18 June 2024

published in

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21 October 2019

volume

57

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21 October 2019

issue

1

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21 October 2019

page(s)

8-21

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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

21 October 2019

cites work

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

12 July 2018

1 reference

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A new missense mutation of fibrillin in a patient with Marfan syndrome

12 July 2018

1 reference

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An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

12 July 2018

1 reference

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

12 July 2018

1 reference

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A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

12 July 2018

1 reference

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Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

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Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

12 July 2018

1 reference

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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

12 July 2018

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

12 July 2018

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

12 July 2018

1 reference

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beta-Hydroxyaspartic acid or beta-hydroxyasparagine in bovine low density lipoprotein receptor and in bovine thrombomodulin.

12 July 2018

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

12 July 2018

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Functional inactivation of genes by dominant negative mutations

12 July 2018

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Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

12 July 2018

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A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

12 July 2018

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

12 July 2018

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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

12 July 2018

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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.

12 July 2018

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Assembly of extracellular matrix

12 July 2018

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

12 July 2018

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27 July 2018

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

25 September 2018

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Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

25 September 2018

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25 September 2018

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Fibrillin domain folding and calcium binding: significance to Marfan syndrome

15 November 2018

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12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

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12 December 2020

The solution structure of human epidermal growth factor

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12 December 2020

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

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12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

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12 December 2020

Novel type of very high affinity calcium-binding sites in beta-hydroxyasparagine-containing epidermal growth factor-like domains in vitamin K-dependent protein S

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12 December 2020

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

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12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

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12 December 2020

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

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12 December 2020

Marfan gene dissected

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12 December 2020

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

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12 December 2020

Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

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12 December 2020

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts

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12 December 2020

The question of heterogeneity in Marfan syndrome

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12 December 2020

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7611299 AND SRC:MED&resulttype=core&format=json

21 October 2019

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