(Q36688645)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23442826%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity (English)

1 reference

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24 February 2020

1 reference

1

1 reference

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24 February 2020

Bert Callewaert

2

1 reference

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24 February 2020

Fransiska Malfait

10

1 reference

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24 February 2020

14

Christine Bodemer

1 reference

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24 February 2020

3

Emmanuelle Bourrat

1 reference

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24 February 2020

author name string

Marlies Kempers

4

1 reference

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24 February 2020

Astrid S Plomp

5

1 reference

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24 February 2020

Valerie Layet

6

1 reference

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24 February 2020

Deborah Bartholdi

7

1 reference

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24 February 2020

Marjolijn Renard

8

1 reference

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24 February 2020

Julie De Backer

9

1 reference

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24 February 2020

Olivier M Vanakker

11

1 reference

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24 February 2020

Paul J Coucke

12

1 reference

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24 February 2020

Anne M De Paepe

13

1 reference

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24 February 2020

publication date

25 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23442826%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

24 February 2020

published in

1 reference

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24 February 2020

volume

8

1 reference

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24 February 2020

page(s)

36

1 reference

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-36

24 February 2020

exact match

0 references

cites work

Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation

1 reference

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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

30 September 2017

1 reference

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

30 September 2017

1 reference

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The revised Ghent nosology for the Marfan syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

30 September 2017

1 reference

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Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

30 September 2017

1 reference

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Mutations in PYCR1 cause cutis laxa with progeroid features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation

30 September 2017

1 reference

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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

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

30 September 2017

1 reference

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Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599008

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

30 September 2017

1 reference

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

30 September 2017

1 reference

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

5 September 2018

1 reference

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Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation

5 September 2018

1 reference

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

5 September 2018

1 reference

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An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23442826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23442826%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23442826%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23442826%20AND%20SRC:MED&resulttype=core&format=json