The Williams-Beuren Syndrome-A Window into Genetic Variants Leading to the Development of Cardiovascular Disease

被引：26

作者：

Adams, Gregory N. ^{[1
]}

Schmaier, Alvin H.

机构：

[1] Case Western Reserve Univ, Dept Med, Cleveland, OH 44106 USA

来源：

PLOS GENETICS | 2012年 / 8卷 / 02期

关键词：

MOUSE MODEL; HYPERTENSION; ENDOTHELIUM; ANTIOXIDANT; SUPEROXIDE; DECREASES; APOCYNIN;

D O I：

10.1371/journal.pgen.1002479

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：3

共 16 条

[1] Murine prolylcarboxypeptidase depletion induces vascular dysfunction with hypertension and faster arterial thrombosis [J].

Adams, Gregory N. ;

LaRusch, Gretchen A. ;

Stavrou, Evi ;

Zhou, Yihua ;

Nieman, Marvin T. ;

Jacobs, Gretta H. ;

Cui, Yingjie ;

Lu, Yuan ;

Jain, Mukesh K. ;

Mahdi, Fakhri ;

Shariat-Madar, Zia ;

Okada, Yoshio ;

D'Alecy, Louis G. ;

Schmaier, Alvin H. .

BLOOD, 2011, 117 (14) :3929-3937

[2] Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome [J].

Campuzano, Victoria ;

Segura-Puimedon, Maria ;

Terrado, Verena ;

Sanchez-Rodriguez, Carolina ;

Coustets, Mathilde ;

Menacho-Marquez, Mauricio ;

Nevado, Julian ;

Bustelo, Xose R. ;

Francke, Uta ;

Perez-Jurado, Luis A. .

PLOS GENETICS, 2012, 8 (02)

[3] Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension [J].

Del Campo, M ;

Antonell, A ;

Magano, LF ;

Muñoz, FJ ;

Flores, R ;

Bayés, M ;

Jurado, LAP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (04) :533-542

[4] New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome [J].

Del Pasqua, Alessia ;

Rinelli, Gabriele ;

Toscano, Alessandra ;

Iacobelli, Roberta ;

Digilio, Cristina ;

Marino, Bruno ;

Saffirio, Claudia ;

Mondillo, Sergio ;

Pasquini, Luciano ;

Sanders, Stephen Pruett ;

de Zorzi, Andrea .

CARDIOLOGY IN THE YOUNG, 2009, 19 (06) :563-567

[5] Therapeutic Targeting of Mitochondrial Superoxide in Hypertension [J].

Dikalova, Anna E. ;

Bikineyeva, Alfiya T. ;

Budzyn, Klaudia ;

Nazarewicz, Rafal R. ;

McCann, Louise ;

Lewis, William ;

Harrison, David G. ;

Dikalov, Sergey I. .

CIRCULATION RESEARCH, 2010, 107 (01) :106-U221

[6] OXIDATION OF A SPECIFIC METHIONINE IN THROMBOMODULIN BY ACTIVATED NEUTROPHIL PRODUCTS BLOCKS COFACTOR ACTIVITY - A POTENTIAL RAPID MECHANISM FOR MODULATION OF COAGULATION [J].

GLASER, CB ;

MORSER, J ;

CLARKE, JH ;

BLASKO, E ;

MCLEAN, K ;

KUHN, I ;

CHANG, RJ ;

LIN, JH ;

VILANDER, L ;

ANDREWS, WH ;

LIGHT, DR .

JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (06) :2565-2573

[7] Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities [J].

Goergen, Craig J. ;

Li, Hong-Hua ;

Francke, Uta ;

Taylor, Charles A. .

JOURNAL OF VASCULAR RESEARCH, 2011, 48 (02) :119-129

[8] Apocynin is not an inhibitor of vascular NADPH oxidases but an antioxidant [J].

Heumueller, Sabine ;

Wind, Sven ;

Barbosa-Sicard, Eduardo ;

Schmidt, Harald H. H. W. ;

Busse, Rudi ;

Schroeder, Katrin ;

Brandes, Ralf P. .

HYPERTENSION, 2008, 51 (02) :211-217

[9] Chronic tempol prevents hypertension, proteinuria, and poor feto-placental outcomes in BPH/5 mouse model of preeclampsia [J].

Hoffmann, Darren S. ;

Weydert, Christine J. ;

Lazartigues, Eric ;

Kutschke, William J. ;

Kienzle, Martha F. ;

Leach, Jenny E. ;

Sharma, Jennifer A. ;

Sharma, Ram V. ;

Davisson, Robin L. .

HYPERTENSION, 2008, 51 (04) :1058-1065

[10] Antioxidant vitamin supplements and cardiovascular disease [J].

Kris-Etherton, PM ;

Lichtenstein, AH ;

Howard, BV ;

Steinberg, D ;

Witztum, JL .

CIRCULATION, 2004, 110 (05) :637-641

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