BRAF gene: From human cancers to developmental syndromes.

BRAF gene: From human cancers to developmental syndromes.
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DOI:
10.1016/j.sjbs.2014.10.002
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发表时间:
2015-07
影响因子:
4.4
通讯作者:
Al-Aama, Jumana Yousuf
Al-Aama, Jumana Yousuf
中科院分区:
生物学3区
文献类型:
--
作者:
Hussain, Muhammad Ramzan Manwar;Baig, Mukhtiar;Mohamoud, Hussein Sheik Ali;Ul-Haq, Zaheer;Hoessli, Daniel C.;Khogeer, Ghaidaa Siraj;Al-Sayed, Ranem Radwan;Al-Aama, Jumana Yousuf

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BRAF基因编码丝氨酸/苏氨酸蛋白激酶,其参与MAPK/ERK信号通路并在癌症和发育综合征(RASopathies)中起重要作用。现就BRAF基因及RAS/RAF级联反应的其他成员在人类肿瘤和RAS/MAPK综合征中的临床意义进行综述,并着重探讨BRAF的分子基础和临床遗传学,以更好地了解其在肿瘤发生和RAS/MAPK综合征(努南综合征、心面皮肤综合征和LEOPARD综合征)中的平行作用。
The BRAF gene encodes for a serine/threonine protein kinase that participates in the MAPK/ERK signalling pathway and plays a vital role in cancers and developmental syndromes (RASopathies). The current review discusses the clinical significance of the BRAF gene and other members of RAS/RAF cascade in human cancers and RAS/MAPK syndromes, and focuses the molecular basis and clinical genetics of BRAF to better understand its parallel involvement in both tumourigenesis and RAS/MAPK syndromes—Noonan syndrome, cardio-facio-cutaneous syndrome and LEOPARD syndrome.
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