(Q24306624)

GOA release 2020-03-11

1 reference

4

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Zsolt Urban

object named as

Zsolt Urban

8

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Bart L Loeys

object named as

Bart L Loeys

2

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author name string

Qirui Hu

1

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Paul J Coucke

3

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Robert P Mecham

5

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Jiwon Choi

6

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Elaine C Davis

Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs

7

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language of work or name

English

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publication date

1 December 2006

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published in

Human Molecular Genetics

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volume

15

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page(s)

3379-86

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issue

23

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Misfolded proteins, endoplasmic reticulum stress and neurodegeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Fibulin-5/DANCE is essential for elastogenesis in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Elastic fiber homeostasis requires lysyl oxidase-like 1 protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Fibulin-5 interacts with fibrillin-1 molecules and microfibrils

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Missense variations in the fibulin 5 gene and age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Immunoglobulin binding protein (BiP) function is required to protect cells from endoplasmic reticulum stress but is not required for the secretion of selective proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

EVEC, a novel epidermal growth factor-like repeat-containing protein upregulated in embryonic and diseased adult vasculature

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021

A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL414

7 January 2021