(Q36052482)

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Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.

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1 February 2020

Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa (English)

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1 February 2020

alternative mRNA splicing, via spliceosome

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inferred from title

Jessica Wagenseil

5

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1 February 2020

8

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1 February 2020

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Hideki Sugitani

1

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1 February 2020

Eiichi Hirano

2

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1 February 2020

Russell H Knutsen

3

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1 February 2020

Adrian Shifren

4

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1 February 2020

Christopher Ciliberto

6

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1 February 2020

Beth A Kozel

7

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1 February 2020

Elaine C Davis

9

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1 February 2020

Thomas J Broekelmann

10

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1 February 2020

Robert P Mecham

11

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1 February 2020

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9 May 2012

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1 February 2020

Journal of Biological Chemistry

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1 February 2020

287

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1 February 2020

22055-22067

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1 February 2020

26

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1 February 2020

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Mechanisms of emphysema in autosomal dominant cutis laxa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Differential regulation of elastic fiber formation by fibulin-4 and -5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Characterization of the molecular interaction between tropoelastin and DANCE/fibulin-5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Simple and highly efficient BAC recombineering using galK selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Recombineering: a powerful new tool for mouse functional genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Point mutation of bacterial artificial chromosomes by ET recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

A new method for generating point mutations in bacterial artificial chromosomes by homologous recombination in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Elastin is an essential determinant of arterial morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Multiple chick tropoelastin mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

The regulation of lung elastin synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

2 October 2017

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

11 July 2018

Pontamine sky blue: a counterstain for background autofluorescence in fluorescence and immunofluorescence histochemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

11 July 2018

Structure of the bovine elastin gene and S1 nuclease analysis of alternative splicing of elastin mRNA in the bovine nuchal ligament.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

11 July 2018

Alternative splicing of rat tropoelastin mRNA is tissue-specific and developmentally regulated.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

11 July 2018

Noninvasive and invasive pulmonary function in mouse models of obstructive and restrictive respiratory diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Mechanical properties of the skin: a comparison between two suction cup methods.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Sequential loss of two neighboring exons of the tropoelastin gene during primate evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3381164

23 September 2018

Smooth muscle cell to elastic lamina connections in developing mouse aorta. Role in aortic medial organization

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an elastin cross-linking domain that joins three peptide chains. Possible role in nucleated assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of elastin haploinsufficiency on the mechanical behavior of mouse arteries

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of the carboxy terminus of tropoelastin in its assembly into the elastic fiber

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential expression of aortic and lung elastin genes during chick embryogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of multiple tropoelastins secreted by bovine cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutis laxa: autosomal dominant inheritance in five generations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22573328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.327940

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22573328%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22573328%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22573328%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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