(Q34329440)

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

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Europe PubMed Central

PubMed publication ID

1 August 2017

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

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Europe PubMed Central

PubMed publication ID

1 August 2017

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circulatory system

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Bert Callewaert

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Bert L Callewaert

4

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object named as

Osman Baspinar

6

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object named as

Bart L Loeys

17

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10

object named as

Anita Rauch

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Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Marjolijn Renard

1

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Europe PubMed Central

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1 August 2017

Tammy Holm

2

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Europe PubMed Central

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1 August 2017

Regan Veith

3

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Europe PubMed Central

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1 August 2017

Lesley C Adès

5

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Europe PubMed Central

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1 August 2017

Angela Pickart

7

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Europe PubMed Central

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1 August 2017

Majed Dasouki

8

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Europe PubMed Central

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1 August 2017

Juliane Hoyer

9

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Europe PubMed Central

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1 August 2017

Pamela Trapane

11

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Europe PubMed Central

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1 August 2017

Michael G Earing

12

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Europe PubMed Central

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1 August 2017

Paul J Coucke

13

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Europe PubMed Central

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1 August 2017

Lynn Y Sakai

14

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Europe PubMed Central

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1 August 2017

Harry C Dietz

15

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Europe PubMed Central

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1 August 2017

Anne M De Paepe

16

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1 August 2017

publication date

14 April 2010

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Europe PubMed Central

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1 August 2017

European Journal of Human Genetics

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1 August 2017

18

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1 August 2017

8

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1 August 2017

895-901

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Europe PubMed Central

PubMed publication ID

1 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2987390/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Autosomal recessive cutis laxa syndrome revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

De Barsy syndrome: a review of the phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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=2987390

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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=2987390

6 July 2018

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Fibulin-5 interacts with fibrillin-1 molecules and microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Long tortuous aorta in a child with Larsen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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=2987390

6 July 2018

Fibulins: physiological and disease perspectives.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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=2987390

6 July 2018

Fibulin-5/DANCE is essential for elastogenesis in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

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=2987390

6 July 2018

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=2987390

6 July 2018

Clinicopathologic findings in congenital aneurysms of the great vessels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987390

6 July 2018

Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.45

21 January 2018

Identifiers

10.1038/EJHG.2010.45

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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