(Q67482103)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301946%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301946%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

2

J. M. Saraiva

1 reference

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10 September 2022

author name string

H. C. Dietz

1

1 reference

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10 September 2022

R. E. Pyeritz

3

1 reference

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10 September 2022

G. R. Cutting

4

1 reference

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10 September 2022

C. A. Francomano

5

1 reference

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10 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301946

10 September 2022

publication date

1 January 1992

1 reference

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13 September 2019

1 reference

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13 September 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301946%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

366-374

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301946%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

5

1 reference

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Identification of erythro-beta-hydroxyasparagine in the EGF-like domain of human C1r.

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

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7 January 2021

The solution structure of human epidermal growth factor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

EGF-like domains in extracellular matrix proteins: localized signals for growth and differentiation?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

The molecular basis of blood coagulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Microfibrils, elastic anchoring components of the extracellular matrix, are associated with fibronectin in the zonule of Zinn and aorta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Biologically active synthetic fragments of epidermal growth factor: localization of a major receptor-binding region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

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/10.1002%2FHUMU.1380010504

7 January 2021

Solution structure of murine epidermal growth factor: determination of the polypeptide backbone chain-fold by nuclear magnetic resonance and distance geometry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Calcium binding to a human factor IXa derivative lacking gamma-carboxyglutamic acid: evidence for two high-affinity sites that do not involve beta-hydroxyaspartic acid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Domains of laminin with growth-factor activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Occurrence of beta-hydroxylated asparagine residues in non-vitamin K-dependent proteins containing epidermal growth factor-like domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Extracellular matrix microfibrils are composed of core proteins coated with fibronectin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

beta-Hydroxyasparagine in domains homologous to the epidermal growth factor precursor in vitamin K-dependent protein S

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010504

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010504

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301946%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference