(Q37362266)

English

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome

scientific article published on 06 May 2002

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12016585%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12016585%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

0 references

0 references

haploinsufficiency

0 references

Williams-Beuren syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1

1 reference

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9 November 2019

2

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9 November 2019

author name string

Thomas L Seidl

3

1 reference

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9 November 2019

Jodi Katahira

4

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9 November 2019

Leslie B Smoot

5

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9 November 2019

David Chitayat

6

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9 November 2019

Charles D Boyd

7

1 reference

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9 November 2019

Aleksander Hinek

8

1 reference

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9 November 2019

language of work or name

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publication date

6 May 2002

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9 November 2019

American Journal of Human Genetics

1 reference

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9 November 2019

71

1 reference

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9 November 2019

30-44

1 reference

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9 November 2019

1

1 reference

Europe PubMed Central

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9 November 2019

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=384991

9 September 2017

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 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=384991

9 September 2017

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Skin elastic fibers in Williams syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Williams-Beuren syndrome: genes and mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Elastin: molecular description and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Novel arterial pathology in mice and humans hemizygous for elastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 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=384991

9 September 2017

Separate DNA elements containing ATF/CREB and IE86 binding sites differentially regulate the human cytomegalovirus UL112-113 promoter at early and late times in the infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Biological roles of the non-integrin elastin/laminin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 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=384991

9 September 2017

A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 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=384991

9 September 2017

Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Nature and the multiple functions of the 67-kD elastin-/laminin binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

The elastin receptor: a galactoside-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Properties and Function of Lysyl Oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Impaired elastin fiber assembly related to reduced 67-kD elastin-binding protein in fetal lamb ductus arteriosus and in cultured aortic smooth muscle cells treated with chondroitin sulfate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

9 September 2017

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation 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=384991

14 September 2017

The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

14 September 2017

Chemotactic activity of elastin-derived peptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

14 September 2017

Human elastin gene: new evidence for localization to the long arm of chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

14 September 2017

Elastin: mutational spectrum in supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

28 September 2017

Astrocytoma cell interaction with elastin substrates: implications for astrocytoma invasive potential

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

28 September 2017

Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: a form of arterial dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

28 September 2017

Extracellular matrix 4: the elastic fiber

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

28 September 2017

Extracellular matrix and cardiovascular diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

28 September 2017

Elastic fiber during development and aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Elastin: genomic structure and point mutations in patients 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=384991

26 June 2018

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=384991

26 June 2018

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Cell cycle-dependent regulation of elastin gene in cultured chick vascular smooth-muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Recycling of the 67-kDa elastin binding protein in arterial myocytes is imperative for secretion of tropoelastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Improved Movat pentachrome stain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Polyclonal antibodies to tropoelastin and the specific detection and measurement of tropoelastin in vitro.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

26 June 2018

Supravalvular aortic stenosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

2 September 2018

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

2 September 2018

Tropoelastin and elastin degradation products promote proliferation of human astrocytoma cell lines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384991

2 September 2018

Bioengineering of elastic cartilage with aggregated porcine and human auricular chondrocytes and hydrogels containing alginate, collagen, and kappa-elastin

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mechanical stretch stimulates growth of vascular smooth muscle cells via epidermal growth factor receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The synthesis of elastin, collagen, and glycosaminoglycans by high density primary cultures of neonatal rat aortic smooth muscle. An ultrastructural and biochemical study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Supravalvular aortic stenosis. Clinical and pathologic observations in six patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ductus arteriosus migratory smooth muscle cell phenotype processes tropoelastin to a 52-kDa product associated with impaired assembly of elastic laminae

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized arteriopathy in williams syndrome: An intravascular ultrasound study

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proliferation and extracellular matrix synthesis of smooth muscle cells cultured from human coronary atherosclerotic and restenotic lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral artery stenoses in Williams syndrome cause strokes in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional interplay between interleukin-1 receptor and elastin binding protein regulates fibronectin production in coronary artery smooth muscle cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth stimulation of human skin fibroblasts by elastin-derived peptides

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemistry of tropoelastin

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the elastin gene causing supravalvular aortic stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/12016585

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12016585%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12016585%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12016585%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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