(Q46388841)

English

Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. (English)

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Marfan syndrome

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

author name string

Annie C Singleton

1

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Anna L Mitchell

2

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Kathleen A Potter

4

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

James M Pace

5

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

publication date

1 April 2005

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

25

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

4

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

348-352

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Osteogenesis imperfecta in Holstein-Friesian calves.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

An animal model of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Determination of the molecular basis of Marfan syndrome: a growth industry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Heritable bone fragility, joint laxity and dysplastic dentin in Friesian calves: a bovine syndrome of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Two bovine models of osteogenesis imperfecta exhibit decreased apatite crystal size

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibrillin controls TGF-beta activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Cardiovascular lesions in bovine Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Calcium stabilizes fibrillin-1 against proteolytic degradation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20152

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20152

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

1 reference

Europe PubMed Central

21 December 2017

http://europepmc.org/abstract/MED/15776436

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q46388841&oldid=1516540998"