RASA1 mutations reported to date is relatively small and the spectrum of phenotypes caused by mutations in this gene is not well defined. Mutation results and clinical findings in thirty-five unrelated consecutive cases sent for 1 molecular sequencing testing at ARUP Laboratories within the last two...
Especially, miR-223 will implicate as an alternative target for tumour inhibition in CRC patients with a K-RAS mutation because upregulated miR-223 is found in almost all CRC patients with both wild-type K-RAS and K-RAS mutations. Additional findings on miRNA regulation of the gene expression...
Review for "Parkes‐Weber syndrome related to RASA1 mosaic mutation" Background Maternally Expressed Gene 3 ( MEG3 ) is expressed at low levels in placental villi during preeclampsia; however, its roles in unexplained recurr... J López-Gutiérrez 被引量: 0发表: 2020年 RASA1 loss in a BRAF...
The small, membrane-tethered G-protein Ras plays an important role in many cellular processes, including growth, differentiation, and survival (Wennerberg et al.2005). Ras acts as a molecular switch and is bound to GDP in its inactive state, and GTP in its active state. When Ras is active...
In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was ...
Capillary malformation–arteriovenous malformation (CM–AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP. Here we describe, for the first time, a patient with CM–AVM presenting during the late stages of pregnancy with pulmonary "capillary...
We report the follow-up of these three cases with RASA1 gene mutation and comment on the possible role of evaluation for vascular lesions and capillary malformation–arteriovenous malformation syndrome in patients and their families, with intracranial fast-flow shunts....
RASA1 mutationWe present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as...
Conclusion It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.Qin ZhouJia-wei ZhengXiu-juan YangHui-jun WangDuan MaZhong-ping QinAcademic Committee Conference of Shanghai key lab of stomatology...
Mutation in the RASA1 gene was found to underlie capillary malformation-arteriovenous malformation; however, there has been no mechanistic understanding of how the loss of function of RASA1 contributes to this disease. In human endothelial cells, presence of ephrin-B2 dominated over serum stimulation...