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A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukope...

Nemcikova(Michaela),Vejvalkova(Sarka),Fenc... Eur J Pediatr 0000-00-00

...RIT1 and hematologic findings not being observed in RIT1 positive patients to date. Thus, the case broadens variability ...

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clin...

Milosavljević(Doris),Overwater(Eline),Tamm... Am J Med Genet A 0000-00-00

...RIT1 mutation. Our report contributes to the delineation of the phenotype associated with RIT1 mutations and underlines ...

Anti-leukaemic effects induced by APR-246 are dependent on induction of oxida...

Ali(Dina),Mohammad(Dara K),Mujahed(Huthayf... Br J Haematol 0000-00-00

...RIT1. Up-regulation of HMOX1, a key regulator of cellular response to ROS, was independent of TP53 mutational status. NF...

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Kouz(Karim),Lissewski(Christina),Spranger(... Genet Med 0000-00-00

...RIT1 was recently reported as a disease gene for NS, but the number of published cases is still limited.,We sequenced RI...

Mutations in RIT1 cause Noonan syndrome - additional functional evidence and ...

Koenighofer(M),Hung(C Y),McCauley(J L),Dal... Clin Genet 0000-00-00

...RIT1, increased RAS-MAPK/MEK-ERK signaling and the clinical phenotype. The mutant RIT1 protein may possess reduced GTPas...

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic...

Cavé(Hélène),Caye(Aurélie),Ghedira(Nehla),... Eur J Hum Genet 0000-00-00

...RIT1 mutations are not at high risk to developing JMML or ALL, and that RIT1 has at most a marginal role in these sporad...

Biochemical Classification of Disease-associated Mutants of RAS-like Protein ...

Fang(Zhenhao),Marshall(Christopher B),Yin(... J Biol Chem 0000-00-00

...RIT1 and its disease-associated mutants. Here we developed a real-time NMR-based GTPase assay for RIT1 and investigated ...

[RIT1: a novel gene associated with Noonan syndrome].

Arroyo-Carrera(I),Solo de Zaldivar-Tristan... Rev Neurol 0000-00-00

...RIT1, c.295T>C (p.Phe99Leu), has been identified.,RIT1 shares homology with other RAS proteins and the expression of mut...

Remediation of cadmium toxicity in field peas (Pisum sativum L.) through exog...

Rahman(Mohammad Farhadur),Ghosal(Anubrata)... Ecotoxicol Environ Saf 0000-00-00

...RIT1) showed downregulation in shoots when plants were treated with Si along with Cd compared with Cd-treated conditions...

Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells.

Custer(Sara K),Gilson(Timra D),Li(Hongxia)... PLoS One 0000-00-00

...Rit1 transcript. This intron-retained transcript is stable and is mis-spliced in spinal cord from symptomatic SMA mice. ...

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