... aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Whole-exome sequencing showed a c.1784–1802delinsGTCACA, p. S595Cfs*70 homozygous mutation in exon 11 of the ITGB3...

... phosphorylation of cytarabine to cytarabine monophosphate, a necessary step for eventual incorporation of cytarabine triphosphate into DNA and for clinical efficacy. Whether DCK mutations make AML cells resistant to cytarabine is controversial. We studied DCK mutations and messenger RNA (mRNA) concentrations...

...Yan Peng; Longjian Nie; Cong Qin; Lagen Wan; Puhui Zhou Both congenital hypodysfibrinogenemia and factor XI deficiency are rare coagulopathies caused by mutations within the fibrinogen and F11 genes, respectively. To investigate the pathogenesis of combined congenital hypodysfibrinogenemia...

...Wenguang Jia; Weidong Wang; Hengying Zhu; Ping Chen β-Thalassemia is a genetic disease characterized by the defective synthesis of the hemoglobin tetramer β-globin chains. So far, a number of mutations have been identified and associated with this genetic disease. A high incidence of thalassemia...

...Yeping Luo; Zhuoying Li; Lihua Huang; Jing Tian; Menglong Xiong; Zuocheng Yang Background/Aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 ( ANK1 ) mutations is the most common type. We explored an ANK1...

...Na Wang; Fei Wang; Ningning Shan; Xiaohui Sui; Hongzhi Xu Background: Genomic sequencing technologies have identified isocitrate dehydrogenase ( IDH ) mutations in haematological malignancies. The prognostic implications of somatic IDH mutation ( mIDH ) in myelodysplastic syndromes (MDS) remain...

...Lihong Yang; Yingyu Wang; Jianpin Zhou; Xiaoli Cheng; Xiuping Hao; Haixiao Xie; Yanhui Jin; Mingshan Wang Congenital factor XII (FXII) deficiency is a rare autosomal recessive disorder, characterized by a great variability in its clinical manifestations. In this study, we screened for mutations...

...), mutations of the BCR-ABL tyrosine kinase domain (TKD) and BCR-ABL splice variants may cause resistance to first- and second-generation tyrosine kinase inhibitors (TKIs) in chronic myelogenous leukemia (CML) and Philadelphia-positive (Ph+) acute lymphoid leukemia (ALL). Methods: Karyotyping and BCR-ABL TKD...

... but at low frequencies. In adults, the G γ to A γ ratio in the Hb F and often also the Hb F level, are directly related to specific structural characteristics of the chromosome; specific mutations in the promoter sequences 5’ to G γ or to A γ, for instance, may result in increased G γ or A γ chain production...

...J.S. Wainscoat The discovery that mutant β -globin genes arise on different chromosomal backgrounds has allowed studies of the origin and spread of some of the common haemoglobinopathies. The β s mutation has a wide geographic distribution and is found on many different haplotypes, suggesting...

..., namely the frameshift at codon 8, and the IVS-II-1 G→ A mutation. Another mild variation, a β + -thalassemia, was a homozygosity for the mutation of T→C at position 6 of IVS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe β-thalassemic...

...Li-Gen Liu; Hideo Tanaka; Kinro Ito; Takuo Ito; Tanvira A. Sultana; Taiichi Kyo; Akiro Kimura Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) is an interferon (IFN)-induced molecule with apoptotic activity. We examined gene mutations in the death domains of TRAIL receptor 1 (TRAIL...

...Ana L.C. Martinelli; Rendrik F. Franco; Marcia G. Villanova; José F.C. Figueiredo; Marie Secaf; Marli H. Tavella; Leandra N.Z. Ramalho; Sérgio Zucoloto; Marco A. Zago It has been proposed that iron overload may adversely affect liver disease outcome. The recent identification of 2 mutations...

...Dimitrios Papazoglou; Triada Exiara; Matthaios Speletas; Ioannis Panagopoulos; Efstratios Maltezos The frequencies of the hereditary hemochromatosis gene (HFE) mutations C282Y and H63D vary between different populations. There are a limited number of reports regarding the frequency...

... ). In addition, children with NF1 show an increased incidence of myelogenous leukemia, including juvenile chronic myelogenous leukemia (JCML). We studied 8 Japanese JCML patients without NF1 for mutations in exons 21–36 of the NF1 gene by using polymerase chain reaction/single-strand conformation polymorphism...

...Hiroto Kaneko; Shigeo Horiike; Yuri Sasai; Toshiki Iwai; Makoto Nakao; Shouhei Yokota; Masafumi Taniwaki; Kei Kashima; Shinichi Misawa We examined homozygous deletion, point mutation and expression of DPC4 gene, a recently isolated candidate pancreatic tumor suppressor gene, in 53 patients...