A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome (Q34219428)

31 July 2017

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

1 reference

31 July 2017

D M Milewicz

1

1 reference

31 July 2017

J Grossfield

2

1 reference

31 July 2017

S N Cao

3

1 reference

31 July 2017

C Kielty

4

1 reference

31 July 2017

W Covitz

5

1 reference

31 July 2017

T Jewett

6

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

Journal of Clinical Investigation

31 July 2017

1 reference

31 July 2017

95

1 reference

31 July 2017

5

1 reference

31 July 2017

2373-2378

1 reference

Importance of conserved amino acids at the cleavage site of the haemagglutinin of a virulent avian influenza A virus

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Intracellular trafficking and activation of the furin proprotein convertase: localization to the TGN and recycling from the cell surface

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Influenza virus A pathogenicity: the pivotal role of hemagglutinin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Sequence requirements for cleavage activation of influenza virus hemagglutinin expressed in mammalian cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Functional inactivation of genes by dominant negative mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Effects of amino acid replacements within the tetrabasic cleavage site on the processing of the human insulin receptor precursor expressed in Chinese hamster ovary cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Mammalian subtilisins: the long-sought dibasic processing endoproteases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Influenza virus hemagglutinin with multibasic cleavage site is activated by furin, a subtilisin-like endoprotease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Preferred sequence requirements for cleavage of pro-von Willebrand factor by propeptide-processing enzymes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

The Marfan Syndrome: Diagnosis and Management

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Microfibrillar assemblies of foetal bovine skin. Developmental expression and relative abundance of type VI collagen and fibrillin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295860

Life Expectancy and Causes of Death in the Marfan Syndrome

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7738200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Arg-X-Lys/Arg-Arg motif as a signal for precursor cleavage catalyzed by furin within the constitutive secretory pathway

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7738200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7738200

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI117930

1 reference

31 July 2017

1 reference

31 July 2017

1 reference