Extracranial arteriovenous malformations: from bedside to bench

被引:17
作者
Qiao, Congzhen [1 ]
Richter, Gresham T. [2 ,3 ,4 ]
Pan, Weijun [5 ]
Jin, Yunbo [1 ]
Lin, Xiaoxi [1 ]
机构
[1] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Dept Plast & Reconstruct Surg, Sch Med, Shanghai 200011, Peoples R China
[2] Arkansas Childrens Hosp, Ctr Invest Congenital Anomalies Vasc Dev, Arkansas Vasc Biol Program, 800 Marshall St, Little Rock, AR 72202 USA
[3] Univ Arkansas Med Sci, Dept Otolaryngol Head & Neck Surg, Little Rock, AR 72205 USA
[4] Arkansas Childrens Hosp, Div Pediat Otolaryngol, 800 Marshall St, Little Rock, AR 72202 USA
[5] Chinese Acad Sci, Shanghai Inst Biol Sci, CAS Ctr Excellence Mol Cell Sci, Key Lab Stem Cell Biol, Shanghai, Peoples R China
关键词
HEREDITARY HEMORRHAGIC TELANGIECTASIA; ENDOTHELIAL GROWTH-FACTOR; TGF-BETA; VASCULAR ANOMALIES; ALAGILLE-SYNDROME; EXTRACELLULAR-MATRIX; EMBRYONIC LETHALITY; SOMATIC MUTATIONS; SIGNALING PATHWAY; NOTCH3; MUTATIONS;
D O I
10.1093/mutage/gez028
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Arteriovenous malformation (AVM) is defined as a fast-flow vascular anomaly that shunts blood from arteries directly to veins. This short circuit of blood flow contributes to progressive expansion of draining veins, resulting in ischaemia, tissue deformation and in some severe cases, congestive heart failure. Various medical interventions have been employed to treat AVM, however, management of which remains a huge challenge because of its high recurrence rate and lethal complications. Thus, understanding the underlying mechanisms of AVM development and progression will help direct discovery and a potential cure. Here, we summarize current findings in the field of extracranial AVMs with the aim to provide insight into their aetiology and molecular influences, in the hope to pave the way for future treatment.
引用
收藏
页码:299 / 306
页数:8
相关论文
共 108 条
  • [1] Roles of ephrinB ligands and EphB receptors in cardiovascular development: demarcation of arterial/venous domains, vascular morphogenesis, and sprouting angiogenesis
    Adams, RH
    Wilkinson, GA
    Weiss, C
    Diella, F
    Gale, NW
    Deutsch, U
    Risau, W
    Klein, R
    [J]. GENES & DEVELOPMENT, 1999, 13 (03) : 295 - 306
  • [2] Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
    Amyere, Mustapha
    Revencu, Nicole
    Helaers, Raphael
    Pairet, Eleonore
    Baselga, Eulalia
    Cordisco, Maria
    Chung, Wendy
    Dubois, Josee
    Lacour, Jean-Philippe
    Martorell, Loreto
    Mazereeuw-Hautier, Juliette
    Pyeritz, Reed E.
    Amor, David J.
    Bisdorff, Annouk
    Blei, Francine
    Bombei, Hannah
    Dompmartin, Anne
    Brooks, David
    Dupont, Juliette
    Gonzalez-Enseat, Maria Antonia
    Frieden, Ilona
    Gerard, Marion
    Kvarnung, Malin
    Hanson-Kahn, Andrea Kwan
    Hudgins, Louanne
    Leaute-Labreze, Christine
    McCuaig, Catherine
    Metry, Denise
    Parent, Philippe
    Paul, Carle
    Petit, Florence
    Phan, Alice
    Quere, Isabelle
    Salhi, Aicha
    Turner, Anne
    Vabres, Pierre
    Vicente, Asuncion
    Wargon, Orli
    Watanabe, Shoji
    Weibel, Lisa
    Wilson, Ashley
    Willing, Marcia
    Mulliken, John B.
    Boon, Laurence M.
    Vikkula, Miikka
    [J]. CIRCULATION, 2017, 136 (11) : 1037 - +
  • [3] MicroRNA-132-mediated loss of p120RasGAP activates the endothelium to facilitate pathological angiogenesis
    Anand, Sudarshan
    Majeti, Bharat K.
    Acevedo, Lisette M.
    Murphy, Eric A.
    Mukthavaram, Rajesh
    Scheppke, Lea
    Huang, Miller
    Shields, David J.
    Lindquist, Jeffrey N.
    Lapinski, Philip E.
    King, Philip D.
    Weis, Sara M.
    Cheresh, David A.
    [J]. NATURE MEDICINE, 2010, 16 (08) : 909 - U109
  • [4] Endoglin, an ancillary TGFβ receptor, is required for extraembryonic angiogenesis and plays a key role in heart development
    Arthur, HM
    Ure, J
    Smith, AJH
    Renforth, G
    Wilson, DI
    Torsney, E
    Charlton, R
    Parums, DV
    Jowett, T
    Marchuk, DA
    Burn, J
    Diamond, AG
    [J]. DEVELOPMENTAL BIOLOGY, 2000, 217 (01) : 42 - 53
  • [5] OXYGEN AND GROWTH AND DEVELOPMENT OF RETINAL VESSELS - IN VIVO AND IN VITRO STUDIES - 20 FRANCIS I PROCTOR LECTURE
    ASHTON, N
    PATH, FC
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1966, 62 (03) : 412 - &
  • [6] Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia
    Baeyens, Nicolas
    Larrivee, Bruno
    Ola, Roxana
    Hayward-Piatkowskyi, Brielle
    Dubrac, Alexandre
    Huang, Billy
    Ross, Tyler D.
    Coon, Brian G.
    Min, Elizabeth
    Tsarfati, Maya
    Tong, Haibin
    Eichmann, Anne
    Schwartz, Martin A.
    [J]. JOURNAL OF CELL BIOLOGY, 2016, 214 (07) : 807 - 816
  • [7] Mek2 is dispensable for mouse growth and development
    Bélanger, LF
    Roy, S
    Tremblay, M
    Brott, B
    Steff, AM
    Mourad, W
    Hugo, P
    Erikson, R
    Charron, J
    [J]. MOLECULAR AND CELLULAR BIOLOGY, 2003, 23 (14) : 4778 - 4787
  • [8] Benjamin LE, 1998, DEVELOPMENT, V125, P1591
  • [9] Requirement for Map2k1 (Mek1) in extra-embryonic ectoderm during placentogenesis
    Bissonauth, Vickram
    Roy, Sophie
    Gravel, Mathieu
    Guillemette, Stephanie
    Charron, Jean
    [J]. DEVELOPMENT, 2006, 133 (17): : 3429 - 3440
  • [10] PTEN hamartoma tumor syndromes
    Blumenthal, Gideon M.
    Dennis, Phillip A.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (11) : 1289 - 1300