Literature DB >> 28446468

What's the Skinny on Elastin Deficiency and Supravalvular Aortic Stenosis?

Stoyan N Angelov1, Jay Zhu1, Jie Hong Hu1, David A Dichek2.   

Abstract

Entities:  

Keywords:  Editorial; Williams syndrome; aorta; collagen; elastin; supravalvular aortic stenosis

Mesh：

Substances：

Year:  2017        PMID： 28446468      PMCID： PMC5472477          DOI： 10.1161/ATVBAHA.117.309257

Source DB:  PubMed          Journal:  Arterioscler Thromb Vasc Biol        ISSN： 1079-5642            Impact factor:   8.311


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  24 in total

1.  THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

Authors:  A J BEUREN; C SCHULZE; P EBERLE; D HARMJANZ; J APITZ
Journal:  Am J Cardiol       Date:  1964-04       Impact factor: 2.778

2.  Supravalvular aortic stenosis.

Authors:  J J DENIE; A P VERHEUGT
Journal:  Circulation       Date:  1958-11       Impact factor: 29.690

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

Authors:  Zsolt Urbán; Sheila Riazi; Thomas L Seidl; Jodi Katahira; Leslie B Smoot; David Chitayat; Charles D Boyd; Aleksander Hinek
Journal:  Am J Hum Genet       Date:  2002-05-06       Impact factor: 11.025

4.  Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency.

Authors:  Wei Li; Qingle Li; Lingfeng Qin; Rahmat Ali; Yibing Qyang; May Tassabehji; Barbara R Pober; William C Sessa; Frank J Giordano; George Tellides
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-03-14       Impact factor: 8.311

Review 5.  Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

Authors:  Barbara R Pober; Mark Johnson; Zsolt Urban
Journal:  J Clin Invest       Date:  2008-05       Impact factor: 14.808

6.  Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome.

Authors:  C J Partsch; G Dreyer; A Gosch; M Winter; R Schneppenheim; A Wessel; R Pankau
Journal:  J Pediatr       Date:  1999-01       Impact factor: 4.406

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

Authors:  M E Curran; D L Atkinson; A K Ewart; C A Morris; M F Leppert; M T Keating
Journal:  Cell       Date:  1993-04-09       Impact factor: 41.582

8.  Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment.

Authors:  J A van Son; W D Edwards; G K Danielson
Journal:  J Thorac Cardiovasc Surg       Date:  1994-07       Impact factor: 5.209

9.  Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease.

Authors:  Eiichi Hirano; Russell H Knutsen; Hideki Sugitani; Christopher H Ciliberto; Robert P Mecham
Journal:  Circ Res       Date:  2007-07-12       Impact factor: 17.367

10.  Novel arterial pathology in mice and humans hemizygous for elastin.

Authors:  D Y Li; G Faury; D G Taylor; E C Davis; W A Boyle; R P Mecham; P Stenzel; B Boak; M T Keating
Journal:  J Clin Invest       Date:  1998-11-15       Impact factor: 14.808
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  4 in total

1.  Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.

Authors:  Elena Gallo MacFarlane; Sarah J Parker; Joseph Y Shin; Benjamin E Kang; Shira G Ziegler; Tyler J Creamer; Rustam Bagirzadeh; Djahida Bedja; Yichun Chen; Juan F Calderon; Katherine Weissler; Pamela A Frischmeyer-Guerrerio; Mark E Lindsay; Jennifer P Habashi; Harry C Dietz
Journal:  J Clin Invest       Date:  2019-01-07       Impact factor: 14.808

Review 2.  Vascular Development.

Authors:  Mark W Majesky
Journal:  Arterioscler Thromb Vasc Biol       Date:  2018-03       Impact factor: 8.311

3.  High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.

Authors:  Catherine Tcheandjieu; Ke Xiao; Helio Tejeda; Julie A Lynch; Sanni Ruotsalainen; Tiffany Bellomo; Madhuri Palnati; Renae Judy; Derek Klarin; Rachel L Kember; Shefali Verma; Aarno Palotie; Mark Daly; Marylyn Ritchie; Daniel J Rader; Manuel A Rivas; Themistocles Assimes; Philip Tsao; Scott Damrauer; James R Priest
Journal:  Nat Genet       Date:  2022-05-30       Impact factor: 41.307

4.  Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome.

Authors:  Francesc Jiménez-Altayó; Paula Ortiz-Romero; Lídia Puertas-Umbert; Ana Paula Dantas; Belén Pérez; Elisabet Vila; Pilar D'Ocon; Victoria Campuzano
Journal:  Sci Rep       Date:  2020-01-21       Impact factor: 4.379
  4 in total

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