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Detection rate and mutational landscape in extracranial arteriovenous malform...

Schmidt(VF),Schanze(D),Brill(R),Loeser(JH)... BMC Med 2026-04-16

...RIT1, RAF1, and GNA14 (each 0.9%, 1/114). Within the RAS/MAPK pathway, RAS variants (KRAS, HRAS) were linked to more sev...

Case Report: Contrasting phenotypes of arrhythmogenic cardiomyopathy: classic...

Park(BE),Yang(DH) Front Cardiovasc Med None

...RIT1 variant was identified without desmosomal mutations. This case was interpreted as a RASopathy-associated arrhythmog...

Transcriptional profiling of circulating extracellular vesicles from prebiops...

Werner(S),Tennstedt(P),Pose(RC),Müller(C),... Mol Oncol 2026-03-26

...RIT1, S100A2, THBS1, and XRCC2 were significantly elevated in EVs from patients with significant prostate cancer (n = 14...

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic...

Prevedello(F),Ali(DS),Piccolo(C),Rigon(C),... Am J Med Genet A 2026-08-00

...RIT1 variant (c.229G>C, p.(Ala77Pro), 16.45% VAF), both meeting criteria for pathogenicity. The RIT1 variant was validat...

New Biochemical Insights into RIT GTPases Regulation and Membrane Interaction...

Mirzaiebadizi(A),Bazgir(F),Mosaddeghzadeh(... Cells 2026-08-28

...RIT1 and RIT2 are members of the RAS superfamily of small GTPases, which regulate various cellular processes. RIT1 is wi...

Genetic findings of children with congenital heart diseases using chromosomal...

Guo(R),Duan(C),Zarrei(M),Reuter(MS),Dong(R... Sci Rep 2025-07-26

...RIT1, and SMAD6. Trio sequencing facilitated the identification of pathogenic variation (55.6% were de novo missense var...

Pathway-Specific Genomic Alterations in Pancreatic Cancer Across Populations ...

Monge(C),Waldrup(B),Carranza(FG),Manjarrez... Int J Mol Sci 2025-08-08

...RIT1 (RTK/RAS), and CTNNB1 (WNT). No significant survival differences were observed in H/L patients, but NHW patients wi...

Mirror syndrome and placental ectopic liver in association with de novo SOS1 ...

Tanaka(Y),Ikenoue(S),Ueno(A),Masugi(Y),Yam... Eur J Med Genet 2025-10-00

...RIT1-associated mirror syndrome and non-immune hydrops fetalis (NIHF) further supports the role of Rasopathies in the pa...

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome pati...

Yaoita(Masako),Niihori(Tetsuya),Mizuno(Sei... Hum Genet 2016-05-20

...RIT1 mutation-positive patients, we further performed a RIT1 analysis in RASopathy patients and identified 7 RIT1 mutati...

Elevated expression of RIT1 correlates with poor prognosis in endometrial can...

Xu(Fengjuan),Sun(Su'an),Yan(Shilan),Guo(Ho... Int J Clin Exp Pathol 2016-10-05

...RIT1 and assess the clinical significance of RIT1 expression in endometrial cancer patients. The mRNA and protein expres...

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