Factor IX mutations in hemophilia <scp>B</scp> patients from <scp>L</scp>iaoning <scp>P</scp>rovince, <scp>C</scp>hina

Cao, Dong-Yuan; Liu, X. L.; W., X.; Sun, Jingjing; Xiu-juan, Bai; Qiu, Gang

doi:10.1111/ijlh.12169

Cited by 3 publications

(1 citation statement)

References 6 publications

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“…The molecular pro le of patients with HB varies widely among different studies [24][25][26][27][28][29][30][31]. According to a population-based study from Sweden, Val107silent, Arg145His, and Ala233Thr mutations are commonly found in mild HB cases, followed by Arg-4Trp in moderate cases and Arg248stop, Arg29stop, and Arg252stop in severe cases [24].…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Preprint

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Background There is a high prevalence of inherited bleeding disorders in Iran, such as hemophilia A (HA) and hemophilia B (HB). This study aimed to analyze the molecular and clinical profiles of patients with HB.Methods A single-center study was conducted among patients with severe HB between March 20, 2000, and June 31, 2023. The polymerase chain reaction (PCR) amplification was used for all of the major regions, such as the promoter, the exons, the adjacent intronic regions, and the untranslated regions of the F9 gene. Finally, Sanger sequencing was performed on the PCR products.Results A total of 111 HB patients (17 with HB Leyden and 94 without HB Leyden) were enrolled in this study. The median age of the patients at the time of diagnosis was 12 months (IQR: 6 months to 60 months). A family history of hemophilia was reported in 64 (57.7%) of patients. The most common bleeding manifestations were hemarthrosis, bruising, and oral cavity bleeding. Among 94 patients without HB Leyden, 59 (62.8%) had missense, 21 (22.3%) had nonsense, and 8 (8.5%) had frameshift mutations. Moreover, the most frequent mutation in HB Leyden was c.-17 A > G in this study. Finally, two novel mutations (c. -14 T > C and c. -56 T > A) were identified in the promotor region.Conclusion The results of this study confirm that HB is caused by a wide range of molecular defects in Iran. Thus, by knowing the genotypes and phenotypes, we would be able to stratify the patients which is important in terms of their management and outcome.

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Section: Discussionmentioning

confidence: 99%

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Preprint

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Response of earthworm coelomocytes and catalase to pentanone and hexanone: a revelation of the toxicity of conventional solvents at the cellular and molecular level

Sun

et al. 2022

Environ Sci Pollut Res

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Organic solvents like 2-Pentanone and 2-Hexanone which are widely used in industrial production play an important role in the source of chemical pollution. Based on the current gaps in 2-Pentanone and 2-Hexanone cytotoxicity studies, the earthworms in the soil, which are susceptible to solvent leakage and volatilization, were selected as the receptor. The cytotoxicity of 2-Pentanone and 2-Hexanone was revealed by measuring the multiple intracellular indicators of oxidative stress. At the molecular level, changes in the structure and function of antioxidant enzyme catalase (CAT) were characterized in vitro by a variety of spectroscopy methods and molecular docking. The results show that 2-Pentanone and 2-Hexanone that induced the accumulation of intracellular reactive oxygen species can eventually decrease the cell viability of coelomocytes, accompanied by the regular changes of antioxidant activity and lipid peroxidation level. In addition, the exposure of 2-Pentanone and 2-Hexanone can shrink the backbone structure of CAT, quench the uorescence and misfold the secondary structure. The decrease in enzyme activity should be attributed to the structural changes induced by surface binding. This study discussed the toxicological effects and mechanisms of commonly used organic solvents at the cellular and molecular level, which creatively proposed a new combined method.

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Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study

Moghadam,

Manafzadeh,

Dajliry

et al. 2024

Transfusion and Apheresis Science

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Factor IX mutations in hemophilia B patients from Liaoning Province, China

Cited by 3 publications

References 6 publications

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Genotype-phenotype analyses of Iranian patients with and without hemophilia B Leyden: A single-center study

Response of earthworm coelomocytes and catalase to pentanone and hexanone: a revelation of the toxicity of conventional solvents at the cellular and molecular level

Genotype-phenotype analyses of Iranian patients with hemophilia B (Leyden -) and hemophilia B (Leyden +): A single-center study

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