Ask about this productRelated genes to: Rasa1 antibody
- 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 antibody
Related articles to: Rasa1 antibody
- This study aimed to assess the detection rate and spectrum of pathogenic variants (PVs) and candidate variants (variants of uncertain significance, VUS) in AVM patients. - Source: PubMed
Publication date: 2026/04/16
Schmidt Vanessa FSchanze DennyBrill RichardLoeser Julius HUller WibkeDoppler MichaelCangir ÖzlemHengst SusanneVielsmeier VeronikaPech MaciejObereisenbuchner FlorianSchirren MirjamSint AlenaPuhr-Westerheide DanielDeniz SinanWeiß Jakob B WHäberle BeateHartel AlexandraFröba-Pohl AlexandraHaehl JuliaHolm AnnegretSporns Peter BScherf ThomasRicke JensLassmann SilkeSeidensticker MaxWohlgemuth Walter AKimm Melanie AZenker MartinWildgruber MoritzKapp Friedrich G - Capillary malformation-arteriovenous malformation (CM-AVM) is an inherited autosomal dominant vascular disorder associated with RAS p21 protein activator () or EPH receptor B4 () mutations. We aimed to investigate the clinical features of eight Chinese families with CM-AVM and the genetic characteristics of or gene variants. - Source: PubMed
Publication date: 2026/03/27
Lin YanyanDong ShuyanZhu ChanghuaDong LinxinLin LihangXiao Xuemin - Hydatidiform mole (HM) is driven by aberrant trophoblast proliferation, disrupting embryonic development and leading to pregnancy loss with increased risk of malignant progression. Despite its clinical significance, the cellular and molecular heterogeneity of HM remains poorly characterized. To address this, we integrated single-nucleus RNA sequencing (snRNA-seq), single-nucleus transposase-accessible chromatin sequencing (snATAC-seq), and spatial transcriptomics to construct a cell-resolved atlas of androgenetic complete HM compared with gestational age-matched controls. The three major trophoblast lineages exhibit distinct differentiation relationships and functional associations: villous cytotrophoblast (VCT) are trophoblast cells with stemness, which can differentiate into hormone-secreting syncytiotrophoblast (SCT) and invasive migratory extravillous trophoblast (EVT). Our findings demonstrate that imprinted genes exhibited cell-type-specific expression patterns in HM, with more pronounced dysregulation in trophoblasts compared to non-trophoblast cells. We identified a deficiency of the progenitor subpopulation VCT1 with inactivation of the stemness-maintaining core transcription factor TP63. The invasive and migratory capacities of EVT were enhanced in HM, along with hyperactivation of the transcription factor MYCN and intensified crosstalk with the immune microenvironment. The SCT-Mature1 compartment displayed impaired maturation and downregulation of placenta-specific hormones, including PSG, CSH, and PAPPA. Machine learning analysis identified RASA1 as a novel key regulator characterized by its specific low expression in HM, which was further validated using hTSC (human trophoblast stem cell) to be involved in SCT differentiation. Potential therapeutic targets, such as MYCN and RASA1, and the diagnostic utility of monitoring placenta-specific hormone levels, are expected. Together, our findings establish a framework for understanding HM-specific placental dysfunction and developing future targeted diagnoses and therapies. - Source: PubMed
Publication date: 2026/02/27
Chen XueyaoYu RuijieGao XiaoyuanZhang XinwenGao YuanHan YanliLu MinghuiXie HongqiangZou YangXu PeiwenChen Zi-JiangYu YunhaiZhao HanZhao Rusong - Hydrops fetalis (HF) is the pathological accumulation of fluid in two or more fetal compartments. While immune-mediated HF was historically predominant, non-immune hydrops fetalis (NIHF) is now increasingly common. Advances in genetic testing have revealed monogenic causes, including RASopathies (a group of genetic syndromes caused by dysregulation of the RAS-mitogen-activated protein kinase signalling pathway). We report a young primigravida, referred at 20+3 weeks for unilateral fetal pleural effusion. Serial ultrasound scans showed rapid progression to bilateral effusion, hepatomegaly, polyhydramnios and NIHF. First-trimester screening and non-invasive prenatal testing were low-risk, Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, Herpes simplex serologies and PCR ruled out infection. Whole exome sequencing identified a likely pathogenic heterozygous frameshift mutation in the RASA1 gene (c.723dupT; p.Gly242TrpfsTer23), associated with capillary malformation-arteriovenous malformation type 1 (CM-AVM1). The mother had a subtle congenital capillary haemangioma on her left hand and revealed the same heterozygous variant of RASA1 gene, indicating variable expressibility. This case highlights the importance of considering rare monogenic causes like RASA1-related CM-AVM1 in NIHF, especially when early findings precede florid hydrops and classical RASopathy features are absent. - Source: PubMed
Publication date: 2026/02/27
Borthakur KakolyMali NishigandhaBorthakur Ishika - Studies in obese polycystic ovary syndrome (PCOS) have shown growth factors that activate rat sarcoma (Ras) proteins, which regulate intracellular signaling pathways, differ in PCOS; however, it is difficult to account for obesity, insulin resistance, and systemic inflammation that are linked to many of the features found in PCOS. This study explores Ras signaling proteins and related growth factors in non-obese women with and without PCOS. Somascan proteomic analysis of circulating KRas, Ras GTPase-activating protein-1 (RASA1), and 45 growth factor-related proteins that signal through Ras was undertaken in a non-obese population of women with (n=44) and without (n=78) PCOS, groups matched for age and body mass index (BMI), without insulin resistance (HOMA-IR) or systemic inflammation (normal CRP; C-reactive protein). There was an increase in the free androgen index (FAI, p<0.0001) and anti-Müllerian hormone (AMH, p<0.0001) in PCOS. Cohen's showed a moderate effect size for 3 proteins, of which Vascular endothelial growth factor-A (VEGFA) and EGFR were increased and EGFR1 was decreased in PCOS (all FDR p<0.05). EGFR and VEGF pathways interact closely and when EGFR signaling decreases, VEGFA may increase to maintain angiogenic balance, suggesting that in non-obese PCOS there may be a signal for compensatory angiogenesis in a dysfunctional endothelial environment. See also the graphical abstract(Fig. 1). - Source: PubMed
Publication date: 2026/01/09
Niinuma Sara AnjumHabib HaniyaTakemoto Ashleigh Suzu-NishioSathyapalan ThozhukatAtkin Stephen LButler Alexandra E