Ask about this productRelated genes to: Rasa1 Blocking Peptide
- Gene:
- RASA1 NIH gene
- Name:
- RAS p21 protein activator 1
- Previous symbol:
- RASA
- Synonyms:
- GAP, CM-AVM, p120GAP, p120RASGAP, p120
- Chromosome:
- 5q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-30
- Date modifiied:
- 2016-10-05
Related products to: Rasa1 Blocking Peptide
Related articles to: Rasa1 Blocking Peptide
- Porcine cumulus-oocyte complexes (COCs) undergo dynamic morphological and molecular changes during maturation; however, cell type- and stage-dependent transcript patterns of Ras-related factors in cumulus cells and oocytes remain unclear. This study investigated changes in Ras-related factors during porcine in vitro maturation (IVM). Porcine COCs were cultured under IVM conditions supplemented with follicle-stimulating hormone (FSH), human chorionic gonadotropin (hCG), and epidermal growth factor (EGF). Cumulus cells and oocytes were collected at 0, 22, and 44 h of IVM, and cumulus expansion was monitored using time-lapse imaging. Hormone receptor-related factors, , Ras family members, and their RasGAP and RasGEF regulators were analyzed using RT-PCR and qPCR with band-intensity analysis. Progressive cumulus expansion was observed during IVM. In cumulus cells, transcript abundance increased at 22 and 44 h, whereas transcript abundance was lower at 44 h. In oocytes, and transcript abundance decreased during maturation. These findings indicate that selected Ras family members and their regulators exhibit distinct cell type- and stage-dependent transcript patterns during porcine COC maturation. These transcript-level findings provide a basis for future protein-level and functional analyses. - Source: PubMed
Publication date: 2026/07/09
Nam YunaSong HyeonseoSeok EunjuLee Sang-Hee - Capillary malformation-arteriovenous malformation syndrome is a rare spectrum of vascular anomalies characterized by capillary malformations and high-flow vascular malformations, caused by loss-of-function mutations in the RASA1 and/or EPHB4 genes. These mutations disrupt vascular differentiation and lead to complex malformations involving the brain, skin, and systemic vasculature. Since the first description in 2003, more than 200 cases have been reported, but intracranial arteriovenous shunts during the neonatal period remain extremely rare, as well as reports of the dual mutation RASA1 + EPHB4 or the immunological impact of the EPHB4 mutation. We report three cases of neonates presenting with early-onset high-flow shunts, each exhibiting a distinct genetic signature: CM-AVM1 (RASA1 mutation), CM-AVM2 (EPHB4 mutation), and dual variant (combined EPHB4 and RASA1 mutations). We analyzed and compared the clinical evolution, Doppler ultrasound trends, EEG, MRI and genetic data to highlight the distinct genotype-phenotype spectrum. Early multimodal hemodynamic evaluation of neonates with CM-AVM allows the identification and optimum management of life-threatening shunts at the earliest possible stage. - Source: PubMed
Publication date: 2026/06/14
Nedelcu CarminaCirstoveanu CatalinFilip CristinaStefan Ruxandra IoanaBizubac Ana MihaelaHeriseanu Mariana CarmenDimitriu Mihai C TIonescu Nicolae SebastianAxente Mihaela - Cetuximab is an EGFR inhibitor used in metastatic colorectal cancer (mCRC). It demonstrates significant response variability even among RAS wild-type patients, with only ~65% objective response rates as first-line therapy. Current biomarkers, including RAS and BRAF mutation status, are insufficient to fully predict cetuximab efficacy. MicroRNA-31 (miR-31-3p and miR-31-5p) has emerged as a potential predictive biomarker through its role in activating the RAS signaling pathway by suppressing RAS p21 GTPase activating protein 1 (RASA1). This systematic review evaluates the evidence on miR-31 as a predictive biomarker for cetuximab response in mCRC. - Source: PubMed
Publication date: 2026/06/18
Thugu Thanmai ReddyPrajapati KesarAlhomaid AhmadJain MuskanSingh NehaDash SonaliMadhavaram Neeharika JohnAli Jamila Begam JabarKanagala Sai GauthamDesai RupakJain Akhil - Ras p21 protein activator 1 (RASA1) is mainly located on cytoplasm and can regulate GTPase activity. The goal of this study was to analyze the association between pulmonary RASA1 expression and chronic obstructive pulmonary disease (COPD) and the potential mechanisms. - Source: PubMed
Publication date: 2026/06/02
Wu Ju-HongMa Yi-ChengWang Yu-QiMiao Hai-LongLiu Meng-XueHua Dong-XuTang Min-MinSui Tian-RuiWu Zhi-YongWang YuYang JinZhao HuiFei JunZhao Xu-DongZhang FangFu LinCao Wei - RASA1-related disorders typically present as capillary malformation-arteriovenous malformation (CM-AVM) syndrome; visceral, especially diffuse gastrointestinal (GI) involvement has not previously been reported. We describe the first case of extensive GI vascular malformations caused by a novel RASA1 splice-site mutation. A 29-year-old man presented with 2-year intermittent hematochezia. Contrast-enhanced CT, double-balloon enteroscopy (DBE) and superior mesenteric angiography revealed diffuse vascular malformations throughout the small bowel and stomach. Targeted next-generation sequencing identified a heterozygous de-novo splice-donor mutation (NM_002890.3:c.1049+2T>G) in intron 6 of RASA1, predicted to be pathogenic. An incidental likely-pathogenic heterozygous frameshift variant in MYBPC3 (NM_000256.3:c.989del, p.Pro330HisfsTer20) was also detected. ISSVA (International Society for the Study of Vascular Anomalies) classifies it as Capillary Malformation-Arteriovenous Malformation (CM-AVM) within Fast-flow Vascular Malformations. Multidisciplinary consultation concluded that the lesions were too extensive for curative resection; the patient was discharged for close surveillance with a plan for sirolimus trial and selective surgical, Interventional or endoscopic hemostasis as needed. This case expands the phenotypic spectrum of RASA1 loss-of-function variants to include diffuse GI vascular malformations. When young patients present with obscure GI bleeding and imaging suggests multifocal angiodysplasia, germline RASA1 analysis should be considered. Early molecular diagnosis facilitates family counseling, targeted surveillance, and personalized therapy. - Source: PubMed
Publication date: 2026/05/29
Wu LangNing ShoubinChen HongyuWei BaojieLi Bairong