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Ion C Cirstea

Explore the profile of Ion C Cirstea including associated specialties, affiliations and a list of published articles. Areas
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Articles 15
Citations 444
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Recent Articles
1.
Pierpont E, Bennett A, Schoyer L, Stronach B, Anschutz A, Borrie S, et al.
Am J Med Genet A . 2023 Nov; 194(4):e63477. PMID: 37969032
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum...
2.
Cirstea I, Moll H, Tuckermann J
Trends Cell Biol . 2022 Nov; 33(7):594-604. PMID: 36428174
Constitutively activated rat sarcoma (RAS) GTPases are one of the major drivers of tumor growth and are difficult drug targets. The glucocorticoid receptor (GR), a nuclear receptor primarily acting in...
3.
Tschaffon M, Reber S, Schoppa A, Nandi S, Cirstea I, Aszodi A, et al.
Endocrine . 2021 Sep; 75(1):266-275. PMID: 34529238
Purpose: Endochondral ossification, which involves transdifferentiation of chondrocytes into osteoblasts, is an important process involved in the development and postnatal growth of most vertebrate bones as well as in bone...
4.
Tangudu N, Buth N, Strnad P, Cirstea I, Vujic Spasic M
Pharmaceuticals (Basel) . 2019 May; 12(2). PMID: 31067696
The liver, through the production of iron hormone hepcidin, controls body iron levels. High liver iron levels and deregulated hepcidin expression are commonly observed in many liver diseases including highly...
5.
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, et al.
Hum Mol Genet . 2018 Nov; 28(6):1007-1022. PMID: 30481304
Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and the MAPK cascade. Recently, genome scanning has discovered novel genes implicated in NS, whose...
6.
Pantaleoni F, Lev D, Cirstea I, Motta M, Lepri F, Bottero L, et al.
Hum Mutat . 2017 Apr; 38(7):798-804. PMID: 28390077
RASopathies are a group of rare, clinically related conditions affecting development and growth, and are caused by germline mutations in genes encoding signal transducers and modulators with a role in...
7.
Nakhaei-Rad S, Nakhaeizadeh H, Kordes C, Cirstea I, Schmick M, Dvorsky R, et al.
J Biol Chem . 2015 May; 290(25):15892-15903. PMID: 25940089
E-RAS is a member of the RAS family specifically expressed in embryonic stem cells, gastric tumors, and hepatic stellate cells. Unlike classical RAS isoforms (H-, N-, and K-RAS4B), E-RAS has,...
8.
Zhang S, Gremer L, Heise H, Janning P, Shymanets A, Cirstea I, et al.
PLoS One . 2014 Jul; 9(7):e102425. PMID: 25014207
Small Rho GTPases are well known to regulate a variety of cellular processes by acting as molecular switches. The regulatory function of Rho GTPases is critically dependent on their posttranslational...
9.
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa E, et al.
Hum Mol Genet . 2014 Apr; 23(16):4315-27. PMID: 24705357
RASopathies, a family of disorders characterized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposition to certain malignancies, are caused by constitutional dysregulation of RAS signalling predominantly...
10.
Jaiswal M, Dvorsky R, Amin E, Risse S, Fansa E, Zhang S, et al.
J Biol Chem . 2014 Jan; 289(10):6839-6849. PMID: 24443565
The three deleted in liver cancer genes (DLC1-3) encode Rho-specific GTPase-activating proteins (RhoGAPs). Their expression is frequently silenced in a variety of cancers. The RhoGAP activity, which is required for...