Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice (Q77994008)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Characterization of mutated protein encoded by partially duplicated fibrillin-1 gene in tight skin (TSK) mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

S Saito

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

H Nishimura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

T D Brumeanu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

S Casares

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

A C Stan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

T Honjo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

C A Bona

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

169-176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

Increased prevalence of systemic sclerosis in a Native American tribe in Oklahoma. Association with an Amerindian HLA haplotype

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

Autoantibodies in scleroderma and tightskin mice

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

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%2FS0161-5890%2899%2900035-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

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%2FS0161-5890%2899%2900035-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

B-cell deficiency does not abrogate development of cutaneous hyperplasia in mice inheriting the defective fibrillin-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

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%2FS0161-5890%2899%2900035-8

7 January 2021

Spontaneous occurrence of anti-fibrillin-1 autoantibodies in tight-skin mice

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

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%2FS0161-5890%2899%2900035-8

7 January 2021

Fibrillin and elastin expression in skin regenerating from cultured keratinocyte autografts: morphogenesis of microfibrils begins at the dermo-epidermal junction and precedes elastic fiber formation

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

Fibrillln mutations in Marfan syndrome and related phenotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

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%2FS0161-5890%2899%2900035-8

7 January 2021

Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

Transforming growth factor beta (TGF beta) causes a persistent increase in steady-state amounts of type I and type III collagen and fibronectin mRNAs in normal human dermal fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-5890%2899%2900035-8

7 January 2021

10.1016/S0161-5890(99)00035-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10403482%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference