The negative effects on survival are additive as PHF6MT cases with RUNX1 mutations have worse outcomes when compared to cases carrying single mutation or wild-type.PHD finger protein 6 (PHF6) somatic mutations have been identified in blood malignancies. Here, the authors perform genetic analyses ...
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....
PHF6 is an X-linked gene, and mutations have been reported to be more common in males, though results of one study did not show a sex difference in mutation incidence (Wang et al., 2011b; Van Vlierberghe et al., 2010). The mutations seem to be more common in patients with the TL...
LRT、polyphen-2、SIFT、mutation taster等多个在线软件预测为致病,该变异遗传自母亲。根据ACMG指南判定为意义未明的基因变异,患儿的表型高度符合BFLS,确诊为该病。通过检索人类孟德尔遗传数据库(online Mendelian inheritance in man,OMIM)尚无该位点报道。 展开阅读 图2 Börjeson-Forssman-Lehmann综合征患儿及其...
2.5 Association of PHF6 mutation with other cytogenetic and molecular abnormalities Among 96 T-ALL patients undergoing cytogenetic analysis, karyotypic data were available for 94 cases; karyotyping failed in two cases because of lack of metaphases. Among the 94 patients with cytogenetic data, abnormal...
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-...
Exploring the impact of acquired PHF6 mutation on the development of AML is consistent with the clini- cal reality. This research not only enables a better under- standing of AML clinical characteristics but also provides a possible scientific basis for PHF6 to become a potential AML therapeutic...
[1] Thorsen K, Dam VS, Kjaer-Sorensen K, Pedersen LN, Skeberdis VA, Jurevicius J, Treinys R, Petersen I, Nielsen MS, Oxvig C, Morth JP, Matchkov VV, Aalkjaer C, Bundgaard H, Jensen HK. Loss-of-activi...
LRT、polyphen-2、SIFT、mutation taster等多个在线软件预测为致病,该变异遗传自母亲。根据ACMG指南判定为意义未明的基因变异,患儿的表型高度符合BFLS,确诊为该病。通过检索人类孟德尔遗传数据库(online Mendelian inheritance in man,OMIM)尚无该位点报道。 讨论...
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility Germline mutations in the von Hippel-Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or ...