Fibrillln mutations in Marfan syndrome and related phenotypes (Q41099958)

26 September 2017

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title

Fibrillln mutations in Marfan syndrome and related phenotypes (English)

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26 September 2017

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F Ramirez

1

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26 September 2017

publication date

1 June 1996

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Current Opinion in Genetics & Development

26 September 2017

published in

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26 September 2017

volume

6

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26 September 2017

issue

3

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26 September 2017

page(s)

309-315

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

26 September 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Software and database for the analysis of mutations in the human FBN1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

The question of heterogeneity in Marfan syndrome

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Reply to "The question of heterogeneity in Marfan syndrome"

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https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Congenital contractural arachnodactyly (Beals syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

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/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

An extracellular matrix protein of jellyfish homologous to mammalian fibrillins forms different fibrils depending on the life stage of the animal

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Mammalian subtilisins: the long-sought dibasic processing endoproteases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Anthrax toxin protective antigen is activated by a cell surface protease with the sequence specificity and catalytic properties of furin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Fibrillin-1: organization in microfibrils and structural properties

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

The role of calcium in the organization of fibrillin microfibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980007-4

7 January 2021

10.1016/S0959-437X(96)80007-4

Identifiers

DOI

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26 September 2017

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