Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
作者信息
Al-Olabi Lara, Polubothu Satyamaanasa, Dowsett Katherine, Andrews Katrina A, Stadnik Paulina, Joseph Agnel P, Knox Rachel, Pittman Alan, Clark Graeme, Baird William, Bulstrode Neil, Glover Mary, Gordon Kristiana, Hargrave Darren, Huson Susan M, Jacques Thomas S, James Gregory, Kondolf Hannah, Kangesu Loshan, Keppler-Noreuil Kim M, Khan Amjad, Lindhurst Marjorie J, Lipson Mark, Mansour Sahar, O'Hara Justine, Mahon Caroline, Mosica Anda, Moss Celia, Murthy Aditi, Ong Juling, Parker Victoria E, Rivière Jean-Baptiste, Sapp Julie C, Sebire Neil J, Shah Rahul, Sivakumar Branavan, Thomas Anna, Virasami Alex, Waelchli Regula, Zeng Zhiqiang, Biesecker Leslie G, Barnacle Alex, Topf Maya, Semple Robert K, Patton E Elizabeth, Kinsler Veronica A
出版信息
J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649.
Abstract
摘要
相似文献
1
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.镶嵌型RAS/MAPK变异导致散发性血管畸形，对靶向治疗有反应。
J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649.
2
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.镶嵌性 RAS/MAPK 变异导致散发性血管畸形，对靶向治疗有反应。
J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12.
3
Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.体细胞 RIT1 缺失在动静脉畸形中过度激活 RAS-MAPK 信号通路，可被 MEK 抑制。
Angiogenesis. 2024 Nov;27(4):739-752. doi: 10.1007/s10456-024-09934-8. Epub 2024 Jul 5.
4
Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.RAS/MAPK 变异驱动的颅外血管异常：谱及基因型-表型相关性。
J Am Heart Assoc. 2024 Apr 16;13(8):e033287. doi: 10.1161/JAHA.123.033287. Epub 2024 Apr 2.
5
Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.Mosaic RASopathy 伴 KRAS 变异 G12D 所致节段性过度生长和相关周围血管畸形。
Am J Med Genet A. 2021 Oct;185(10):3122-3128. doi: 10.1002/ajmg.a.62386. Epub 2021 Jun 11.
6
Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.散发性脑动静脉畸形中 MAPK 通路的体体细胞嵌合体与表型的关联。
J Neurosurg. 2021 Jul 2;136(1):148-155. doi: 10.3171/2020.11.JNS202031. Print 2022 Jan 1.
7
Somatic Mosaicism in the Pathogenesis of de novo Cerebral Arteriovenous Malformations: A Paradigm Shift Implicating the RAS-MAPK Signaling Cascade.从头发生的脑动静脉畸形发病机制中的体突变：涉及 RAS-MAPK 信号级联的范式转变。
Cerebrovasc Dis. 2021;50(2):231-238. doi: 10.1159/000512800. Epub 2021 Feb 8.
8
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.由体细胞 PTPN11 致病性变异引起的偏侧性过度生长伴血管畸形：马赛克 RAS 病谱拼图的又一块。
Genes Chromosomes Cancer. 2022 Nov;61(11):689-695. doi: 10.1002/gcc.23086. Epub 2022 Jul 16.
9
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in .脑面血管体节综合征是由.中的体细胞核型变异引起的。
Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6). doi: 10.1101/mcs.a006147. Print 2021 Dec.
10
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.散发性血管畸形的临床和分子谱系：一项单中心研究。
Biomedicines. 2022 Jun 20;10(6):1460. doi: 10.3390/biomedicines10061460.
引用本文的文献
1
Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.浅表动静脉畸形的诊断与管理：法国医疗保健网络的建议。
Orphanet J Rare Dis. 2025 Jan 30;20(1):45. doi: 10.1186/s13023-024-03413-5.
2
The Role of Medical Management in Vascular Anomalies.医学管理在血管异常中的作用
Semin Intervent Radiol. 2024 Nov 7;41(4):404-412. doi: 10.1055/s-0044-1791538. eCollection 2024 Aug.
3
Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition.脑动静脉畸形的病理生理学：聚焦于内皮功能障碍和内皮-间充质转化
Biomedicines. 2024 Aug 7;12(8):1795. doi: 10.3390/biomedicines12081795.
4
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.脑发育关键信号调节因子在静脉性脑-脑膜血管畸形中的突变。
Nat Commun. 2023 Nov 17;14(1):7452. doi: 10.1038/s41467-023-43062-z.
5
Arteriovenous malformation Map2k1 mutation affects vasculogenesis.动静脉畸形 Map2k1 突变影响血管生成。
Sci Rep. 2023 Jul 8;13(1):11074. doi: 10.1038/s41598-023-35301-6.
6
Neurovascular disease: 2022 update.神经血管疾病：2022年最新进展
Free Neuropathol. 2022 Jun 14;3:15. doi: 10.17879/freeneuropathology-2022-3910. eCollection 2022 Jan.
7
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.PTPN11 镶嵌性导致一系列色素性和血管性神经皮肤疾病，并易患黑色素瘤。
J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23.
8
Molecular basis for pericyte-induced capillary tube network assembly and maturation.周细胞诱导毛细血管管网组装和成熟的分子基础。
Front Cell Dev Biol. 2022 Aug 22;10:943533. doi: 10.3389/fcell.2022.943533. eCollection 2022.
9
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance.成年斑马鱼的长期非侵入性药物治疗导致黑色素瘤耐药性。
Dis Model Mech. 2022 May 1;15(5). doi: 10.1242/dmm.049401. Epub 2022 May 9.
10
From FOS fusions to somatic mutations in the MAPK pathway, heterogeneous genetic abnormalities cause distinct pathophysiology among subsets of epithelioid haemangiomas.从FOS融合到丝裂原活化蛋白激酶（MAPK）途径中的体细胞突变，异质性基因异常在上皮样血管瘤亚群中导致不同的病理生理学。
Br J Dermatol. 2022 Mar;186(3):393-394. doi: 10.1111/bjd.20952. Epub 2022 Mar 1.
Zotero 插件