Germline mutation of PHF6 is the causative genetic alteration of the X-linked mental retardation Borjeson-Forssman-Lehmann syndrome (BFLS). Somatic mutations in PHF6 are identified in human leukemia, such as adult T-cell acute lymphoblastic leukemia (T-ALL,~38%), pediatric T-ALL (~16%), ...
collaborated on the multicenter array-CGH study and PHF6 mutation analysis, provided molecular data on the characterization of T-ALL and performed survival analysis of PHF6 mutations in the DCOG series. R.R. designed and directed the analysis of next-generation sequencing results. F.S. and B....
Of note, our study demonstrated that PHF6 mutations were particularly prevalent in T-ALL patients harboring mutations of NOTCH1 and JAK1 and those with a SET-NUP214 rearrangement. NOTCH1 mutation is the most common genetic alteration in T-ALL leading to constitutive activation of NOTCH signaling...
In addi- tion, PHF6 mutation in B-ALL was also uncommon. It was reported that PHF6 deficiency significantly inhibited the growth of BCR::ABL1-induced B-ALL mouse leuke- mia cells and prolonged mice survival time [24]. These results supported different roles of PHF6 in hematopoi- etic ...
Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma. Acta Oncol. 2012, 51, 107-111.Yoo NJ, Kim YR, and Lee SH, Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and ...
Germline mutations of PHF6 is the causative genetic mutation of the recessive X-linked mental retardation disorder BFLS (Borjesson-Forsmann-Lehmann syndrome), that is characterized by mental retardation, obesity, hypometabolism, hypogonadism, and coarse facial features. Somatic mutations of PHF6 are ...
B枚rjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 GeneBörjeson-Forssman-LehmannsyndromechromatinremodelingPHF6planthomeodomainzincfingerThe B枚rjeson-Forssman-Lehmann syndrome is an X-linked mental retardation disorder caused by mutations in the ...
NGS also revealed a frameshift mutation of PHF6. The T-cell receptor gamma gene rearrangement was diagnosed as positive by PCR, concordant with the diagnosis of T-ALL for this patient. View chapter Review article Transcription factor abnormalities in B-ALL leukemogenesis and treatment Trends in ...
In addition, we used the Phf6 C99F null mutant mice, which are models that mimic the Phf6 C99F point mutation in human BFLS and lack PHF6 protein expression due to protein decay (Cheng et al., 2018). We also found that Phf6 C99F null mutant mice had significantly more Egr1-...