(Q51934190)

17 April 2018

title

Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. (English)

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17 April 2018

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5

Karen W Gripp

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17 April 2018

author name string

Aleksander Hinek

1

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17 April 2018

Michael A Teitell

2

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17 April 2018

Lisa Schoyer

3

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17 April 2018

William Allen

4

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Robert Hamilton

6

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Rosanna Weksberg

7

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17 April 2018

Michael Klüppel

8

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17 April 2018

Angela E Lin

9

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language of work or name

English

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publication date

1 February 2005

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17 April 2018

American Journal of Medical Genetics

published in

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17 April 2018

volume

133A

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17 April 2018

issue

1

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17 April 2018

page(s)

1-12

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17 April 2018

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

cites work

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Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome

21 January 2018

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Alternatively spliced CD44 isoforms containing exon v10 promote cellular adhesion through the recognition of chondroitin sulfate-modified CD44.

21 January 2018

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Enhanced extracellular matrix accumulation in restenosis of coronary arteries after stent deployment

21 January 2018

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Elastin: molecular description and function

21 January 2018

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Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

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Echocardiographic abnormalities in the mucopolysaccharide storage diseases.

21 January 2018

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Costello syndrome: an overview

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30495

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

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.

21 January 2018

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Expression of CD44 by rhabdomyosarcoma: a new prognostic marker?

21 January 2018

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A case of Costello syndrome and glycogen storage disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Further delineation of cardiac abnormalities in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Ligand affinity of the 67-kD elastin/laminin binding protein is modulated by the protein's lectin domain: visualization of elastin/laminin-receptor complexes with gold-tagged ligands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Elastic fiber degeneration in Costello syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Elastic fiber during development and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Proteoglycans in human coronary arteriosclerotic lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Versican: a versatile extracellular matrix proteoglycan in cell biology

21 January 2018

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Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30495

Biochemistry of tropoelastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30495

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30495

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17 April 2018

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17 April 2018