Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa (Q33929448)

30 July 2017

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

1 reference

30 July 2017

1 reference

26

Lionel Van Maldergem

0 references

Anne De Paepe

28

Anne De Paepe

0 references

Fransiska Malfait

5

Fransiska Malfait

0 references

Frank Sciurba

23

Frank C Sciurba

1 reference

30 July 2017

Philip Vlummens

4

0 references

Bert Callewaert

Bert Callewaert

1

0 references

Zsolt Urban

Zsolt Urban

27

0 references

Ketil R. Heimdal

Ketil Heimdal

13

0 references

author name string

Chi-Ting Su

2

1 reference

30 July 2017

Tim Van Damme

3

1 reference

30 July 2017

Olivier Vanakker

6

1 reference

30 July 2017

Bianca Schulz

7

1 reference

30 July 2017

Meghan Mac Neal

8

1 reference

30 July 2017

Elaine C Davis

9

1 reference

30 July 2017

Joseph G H Lee

10

1 reference

30 July 2017

Aicha Salhi

11

1 reference

30 July 2017

Sheila Unger

12

1 reference

30 July 2017

Salome De Almeida

14

1 reference

30 July 2017

Uwe Kornak

15

1 reference

30 July 2017

Harald Gaspar

16

1 reference

30 July 2017

Jean-Luc Bresson

17

1 reference

30 July 2017

Katrina Prescott

18

1 reference

30 July 2017

Maria E Gosendi

19

1 reference

30 July 2017

Sahar Mansour

20

1 reference

30 July 2017

Gérald E Piérard

21

1 reference

30 July 2017

Suneeta Madan-Khetarpal

22

1 reference

30 July 2017

Sofie Symoens

24

1 reference

30 July 2017

Paul J Coucke

25

1 reference

30 July 2017

13 August 2012

1 reference

30 July 2017

1 reference

30 July 2017

34

1 reference

30 July 2017

111-121

1 reference

30 July 2017

1

1 reference

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Mechanisms of emphysema in autosomal dominant cutis laxa.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

De Barsy syndrome and ATP6V0A2-CDG

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Pulmonary hypertension and computed tomography measurement of small pulmonary vessels in severe emphysema

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Mutations in PYCR1 cause cutis laxa with progeroid features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Angiotensin II, mitochondria, cytoskeletal, and extracellular matrix connections: an integrating viewpoint

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Integrins and the activation of latent transforming growth factor beta1 - an intimate relationship

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Myofibroblast contraction activates latent TGF-beta1 from the extracellular matrix

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Transforming growth factor-beta activation in the lung: focus on fibrosis and reactive oxygen species

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Acquired disorders of elastic tissue: Part II. decreased elastic tissue

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Integrin alphaVbeta6-mediated activation of latent TGF-beta requires the latent TGF-beta binding protein-1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Solution Structure of the Third TB Domain from LTBP1 Provides Insight into Assembly of the Large Latent Complex that Sequesters Latent TGF-β

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

5 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

Isoform-specific activation of latent transforming growth factor beta (LTGF-beta) by reactive oxygen species.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

Familial Aggregation and Heritability of Pyloric Stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

21 January 2018

Cutis laxa: case report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22165

Cutis laxa of the autosomal recessive type in a consanguineous family.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4105850

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

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22829427

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Stability of elastin in the developing mouse aorta: a quantitative radioautographic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22829427

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An assay for transforming growth factor-beta using cells transfected with a plasminogen activator inhibitor-1 promoter-luciferase construct

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22829427

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22165

1 reference

30 July 2017

1 reference

30 July 2017

1 reference