Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes (Q34145672)

31 July 2017

title

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

1 reference

31 July 2017

I Schrijver

1

1 reference

31 July 2017

W Liu

2

1 reference

31 July 2017

T Brenn

3

1 reference

31 July 2017

H Furthmayr

4

1 reference

31 July 2017

U Francke

5

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31 July 2017

language of work or name

English

0 references

publication date

1 October 1999

1 reference

American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

65

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31 July 2017

issue

4

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31 July 2017

page(s)

1007-1020

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Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

31 July 2017

cites work

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5 July 2018

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5 July 2018

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5 July 2018

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Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders

5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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

5 July 2018

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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

5 July 2018

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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

5 July 2018

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

5 July 2018

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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

5 July 2018

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

5 July 2018

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

5 July 2018

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Identification, expression, and pharmacology of a Cys23-Ser23 substitution in the human 5-HT2c receptor gene (HTR2C)

5 July 2018

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5 July 2018

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

5 July 2018

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5 July 2018

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Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers

5 July 2018

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The first EGF-like domain from human factor IX contains a high-affinity calcium binding site

5 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

5 July 2018

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5 July 2018

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

5 July 2018

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A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

28 July 2018

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Calcium stabilizes fibrillin-1 against proteolytic degradation.

28 October 2018

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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

28 October 2018

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12 December 2020

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

1 reference

12 December 2020

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

1 reference

12 December 2020

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

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12 December 2020

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Calcium determines the shape of fibrillin

1 reference

12 December 2020

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The role of calcium in the organization of fibrillin microfibrils

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/302582

1 reference

31 July 2017

1 reference

31 July 2017

1 reference