Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies (Q28219544)

Europe PubMed Central

title

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies (English)

0 references

1 reference

1 reference

1

Peter N Robinson

0 references

Luitgard Graul-Neumann

5

object named as

Luitgard Neumann

0 references

author name string

Patrick Booms

2

0 references

Stefanie Katzke

3

0 references

Markus Ladewig

4

0 references

Monika Palz

6

0 references

Reinhard Pregla

7

0 references

Frank Tiecke

8

0 references

Thomas Rosenberg

Exon recognition in vertebrate splicing

9

0 references

language of work or name

English

0 references

publication date

September 2002

0 references

published in

Human Mutation

0 references

volume

20

0 references

page(s)

153-61

0 references

issue

3

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Revised genomic organization of FBN1 and significance for regulated gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Ascertainment and severity of Marfan syndrome in a Scottish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Evolving phenotype of Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Marfan syndrome: new clues to genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

The molecular genetics of Marfan syndrome and related microfibrillopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

The molecular pathogenesis of the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Binary specification of nonsense codons by splicing and cytoplasmic translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Defective calcium binding to fibrillin-1: consequence of an N2144S change for fibrillin-1 structure and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-HinfI-I background in a myotonic dystrophy patient from India. Mutations in brief no. 210. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Calcium determines the shape of fibrillin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10113

7 January 2021