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 ...
Contributions P.V.V. performed array-CGH and mutation analysis ofPHF6and wrote the manuscript. T.P. performed exon capture and next-generation sequencing of T-ALL samples and wrote the manuscript. H.K. analyzed next-generation sequencing data. J.V.d.M. performed additional array-CGH analysis...
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...
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...
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...
[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...
The JAK2V617F mutation has been identified in most cases of Ph-negative myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thr... D Yan,RE Hutchison,G Mohi - 《Blood》 被引量: 173发表: 2011年 Molecular Pathology of Acute Myeloid Leukemias Expression of the JAK2 ...
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 ...
Alpha-1-antitrypsin deficiency is one of the more common metabolic disorders, and is usually associated with one common gene mutation. The deficiency results in increased susceptibility to chronic obstructive pulmonary disease and liver ... DW Cox,BJ Andrews 被引量: 33发表: 1983年 Immunofixation ...
Chromosomal variation and frequency of spontaneous mutation associated with in vitro culture and plant regeneration in maize As frequently stated in the literature the application of biological methods in soil sanitation is increasing. Especially integrated procedures, for example soil washing combined with ...