A sweet link between TGFβ and vascular disease?

被引：19

作者：

Akhurst, RJ ^{[1
]}

机构：

[1] Univ Calif San Francisco, Canc Res Inst, Ctr Comprehens Canc, San Francisco, CA 94143 USA

来源：

NATURE GENETICS | 2006年 / 38卷 / 04期

关键词：

D O I：

10.1038/ng0406-400

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Mutations in SCL2A10, encoding a glucose transporter, result in arterial tortuosity syndrome, indicating a link between glucose metabolism and angiopathic changes. Intriguingly, some of the phenotypic effects of SCL2A10 ablation may be mediated by upregulation of TGF beta signaling, suggesting new approaches for therapy of aortic aneurysm.

引用

页码：400 / 401

页数：3

共 15 条

[1]

Defective paracrine signalling by TGFβ in yolk sac vasculature of endoglin mutant mice:: a paradigm for hereditary haemorrhagic telangiectasia [J].

Carvalho, RLC ;

Jonker, L ;

Goumans, MJ ;

Larsson, J ;

Bouwman, P ;

Karisson, S ;

ten Dijke, P ;

Arthur, HM ;

Mummery, CL .

DEVELOPMENT, 2004, 131 (24) :6237-6247

[2]

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [J].

Coucke, PJ ;

Willaert, A ;

Wessels, MW ;

Callewaert, B ;

Zoppi, N ;

De Backer, J ;

Fox, JE ;

Mancini, GMS ;

Kambouris, M ;

Gardella, R ;

Facchetti, F ;

Willems, PJ ;

Forsyth, R ;

Dietz, HC ;

Barlati, S ;

Colombi, M ;

Loeys, B ;

De Paepe, A .

NATURE GENETICS, 2006, 38 (04) :452-457

[3]

Sequence and functional analysis of GLUT10: A glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1 [J].

Dawson, PA ;

Mychaleckyj, JC ;

Fossey, SC ;

Mihic, SJ ;

Craddock, AL ;

Bowden, DW .

MOLECULAR GENETICS AND METABOLISM, 2001, 74 (1-2) :186-199

[4]

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects [J].

Disabella, E ;

Grasso, M ;

Marziliano, N ;

Ansaldi, S ;

Lucchelli, C ;

Porcu, E ;

Tagliani, M ;

Pilotto, A ;

Diegoli, M ;

Lanzarini, L ;

Malattia, C ;

Pelliccia, A ;

Ficcadenti, A ;

Gabrielli, O ;

Arbustini, E .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (01) :34-38

[5]

Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFP/ALK5 signaling [J].

Goumans, MJ ;

Valdimarsdottir, G ;

Itoh, S ;

Lebrin, F ;

Larsson, J ;

Mummery, C ;

Karlsson, S ;

ten Dijke, P .

MOLECULAR CELL, 2003, 12 (04) :817-828

[6]

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

Loeys, BL ;

Chen, JJ ;

Neptune, ER ;

Judge, DP ;

Podowski, M ;

Holm, T ;

Meyers, J ;

Leitch, CC ;

Katsanis, N ;

Sharifi, N ;

Xu, FL ;

Myers, LA ;

Spevak, PJ ;

Cameron, DE ;

De Backer, J ;

Hellemans, J ;

Chen, Y ;

Davis, EC ;

Webb, CL ;

Kress, W ;

Coucke, P ;

Rifkin, DB ;

De Paepe, AM ;

Dietz, HC .

NATURE GENETICS, 2005, 37 (03) :275-281

[7]

MAO JH, IN PRESS P NATL ACAD

[8]

Connective tissue growth factor mediates high glucose effects on matrix degradation through tissue inhibitor of matrix metalloproteinase type 1: Implications for diabetic nephropathy [J].

McLennan, SV ;

Wang, XY ;

Moreno, V ;

Yue, DK ;

Twigg, SM .

ENDOCRINOLOGY, 2004, 145 (12) :5646-5655

[9]

Heterozygous TGFBR2 mutations in Marfan syndrome [J].

Mizuguchi, T ;

Collod-Beroud, G ;

Akiyama, T ;

Abifadel, M ;

Harada, N ;

Morisaki, T ;

Allard, D ;

Varret, M ;

Claustres, M ;

Morisaki, H ;

Ihara, M ;

Kinoshita, A ;

Yoshiura, K ;

Junien, C ;

Kajii, T ;

Jondeau, G ;

Ohta, T ;

Kishino, T ;

Furukawa, Y ;

Nakamura, Y ;

Niikawa, N ;

Boileau, C ;

Matsumoto, N .

NATURE GENETICS, 2004, 36 (08) :855-860

[10]

Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections [J].

Pannu, H ;

Fadulu, V ;

Chang, J ;

Lafont, A ;

Hasham, SN ;

Sparks, E ;

Giampietro, PF ;

Zaleski, C ;

Estrera, AL ;

Safi, HJ ;

Shete, S ;

Willing, MC ;

Raman, CS ;

Milewicz, DM .

CIRCULATION, 2005, 112 (04) :513-520

← 1 2 →