The RASopathies.
The RASopathies.
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DOI：
10.1146/annurev-genom-091212-153523
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发表时间：
2013
影响因子：
8.7
通讯作者：
Rauen KA
中科院分区：
文献类型：
--
作者：
Rauen KA
ras病是一组临床定义的医学遗传综合征，由编码Ras/丝裂原活化蛋白激酶（MAPK）通路成分或调节因子的基因的种系突变引起。这些疾病包括1型神经纤维瘤病、努南综合征、努南综合征合并多个小痣、毛细血管畸形-动静脉畸形综合征、Costello综合征、心-面-皮综合征和Legius综合征。由于Ras/MAPK通路的共同潜在失调，ras病表现出许多重叠的表型特征。Ras/MAPK通路在调节细胞周期和细胞生长、分化、衰老等过程中发挥重要作用，对正常发育至关重要。因此，Ras/MAPK通路失调对胚胎和后期发育都有深远的有害影响也就不足为奇了。Ras/MAPK通路已经在癌症中得到了很好的研究，并且是小分子抑制治疗各种恶性肿瘤的一个有吸引力的靶点。目前正在考虑使用这些分子来改善RASopathies的发育缺陷。
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. Because of the common underlying Ras/MAPK pathway dysregulation, the RASopathies exhibit numerous overlapping phenotypic features. The Ras/MAPK pathway plays an essential role in regulating the cell cycle and cellular growth, differentiation, and senescence, all of which are critical to normal development. Therefore, it is not surprising that Ras/MAPK pathway dysregulation has profound deleterious effects on both embryonic and later stages of development. The Ras/MAPK pathway has been well studied in cancer and is an attractive target for small-molecule inhibition to treat various malignancies. The use of these molecules to ameliorate developmental defects in the RASopathies is under consideration.
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影响因子：
64.5
作者：
Heidorn SJ;Milagre C;Whittaker S;Nourry A;Niculescu-Duvas I;Dhomen N;Hussain J;Reis-Filho JS;Springer CJ;Pritchard C;Marais R
通讯作者：
Marais R
影响因子：
3.9
作者：
Denayer, Ellen;Chmara, Magdalena;Brems, Hilde;Kievit, Anneke Maat;van Bever, Yolande;Van den Ouweland, Ans M. W.;Van Minkelen, Rick;de Goede-Bolder, Arja;Oostenbrink, Rianne;Lakeman, Phillis;Beert, Eline;Ishizaki, Takuma;Mori, Tomoaki;Keymolen, Kathelijn;Van den Ende, Jenneke;Mangold, Elisabeth;Peltonen, Sirkku;Brice, Glen;Rankin, Julia;Van Spaendonck-Zwarts, Karin Y.;Yoshimura, Akihiko;Legius, Eric
通讯作者：
Legius, Eric
影响因子：
30.8
作者：
Cordeddu, Viviana;Di Schiavi, Elia;Pennacchio, Len A.;Ma'ayan, Avi;Sarkozy, Anna;Fodale, Valentina;Cecchetti, Serena;Cardinale, Alessio;Martin, Joel;Schackwitz, Wendy;Lipzen, Anna;Zampino, Giuseppe;Mazzanti, Laura;Digilio, Maria C.;Martinelli, Simone;Flex, Elisabetta;Lepri, Francesca;Bartholdi, Deborah;Kutsche, Kerstin;Ferrero, Giovanni B.;Anichini, Cecilia;Selicorni, Angelo;Rossi, Cesare;Tenconi, Romano;Zenker, Martin;Merlo, Daniela;Dallapiccola, Bruno;Iyengar, Ravi;Bazzicalupo, Paolo;Gelb, Bruce D.;Tartaglia, Marco
通讯作者：
Tartaglia, Marco
影响因子：
15.9
作者：
Chen, Peng-Chieh;Wakimoto, Hiroko;Kucherlapati, Raju
通讯作者：
Kucherlapati, Raju
影响因子：
64.5
作者：
CAWTHON, RM;WEISS, R;WHITE, R
通讯作者：
WHITE, R