(Q34396968)

1 August 2017

Cutis laxa in hereditary gelsolin amyloidosis (English)

1 reference

hereditary gelsolin amyloidosis

1 August 2017

1 reference

1 reference

Kiuru-Enari S

1

1 reference

1 August 2017

Keski-Oja J

series ordinal

2

1 reference

1 August 2017

Haltia M

series ordinal

3

1 reference

1 August 2017

language of work or name

English

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publication date

1 February 2005

1 reference

British Journal of Dermatology

1 August 2017

1 reference

1 August 2017

152

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1 August 2017

2

1 reference

1 August 2017

250-257

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

1 August 2017

1 reference

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Mutation in gelsolin gene in Finnish hereditary amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Functions of gelsolin: motility, signaling, apoptosis, cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Functional consequences of amyloidosis mutation for gelsolin polypeptide -- analysis of gelsolin-actin interaction and gelsolin processing in gelsolin knock-out fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Solid-phase minisequencing test reveals Asp187 → Asn (G654 → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Dendritic cells and the control of immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Review: immunoglobulin light chain amyloidosis--the archetype of structural and pathogenic variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Amyloid P component. A critical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06276.X

10.1111/J.1365-2133.2004.06276.X

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference