Showing 881 - 900 results of 3,943 for search '"mutation"', query time: 0.09s Refine Results
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    PB2 and PA mutations contribute to the pathogenicity of mouse-adapted pdmH1N1-Venus reporter influenza A virus in a mammalian model by Shixiang Wu, Ruonan Yi, Yingying Tao, Huimin Wu, Li Wu, Jiasheng Song, Xin Zhang, Beibei Yang, Xing Wu, Yulong He, Jianhong Shu, Huapeng Feng

    Published 2025-01-01
    “…Further investigation demonstrates that PA I21M and PA I21M + PB2 T340K significantly enhanced the polymerase activity of WT-CA04-Venus; however, PA F175L + PB2 T340K significantly decreased the polymerase activity of MA-CA04-Venus. Therefore, PA I21M mutation may determine the increased virulence in mice, and PA F175L + PB2 T340K may be involved in the stability of Venus insertion. …”
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  9. 889

    A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia by Hongbing Liu, Jianmin Ran, Chuping Chen, Guangshu Chen, Ping Zhu, Rongshao Tan, Yan Liu

    Published 2019-01-01
    “…Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene sequencing results from a Chinese family. …”
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  10. 890

    Allelic and Genotypic Analysis of LncRNA ANRIL rs4977574 A/G Mutations in Oral Squamous Cell Carcinoma Patients: Insights into Tumor Characteristics and Genotypic Correlations by Mohammad Amin Amiri, Delara Amiri, Mohammad Javad Mokhtari, Fatemeh Lavaee, Mohammad Javad Fattahi, Abbas Ghaderi, Bijan Khademi

    Published 2023-01-01
    “…Eventually, the frequency of wild-type (A) and the mutated allele (G), as well as the genotypes were estimated between the groups of patients with OSCC and healthy individuals. …”
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    Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab by Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

    Published 2025-01-01
    “…Genetic analysis identified a splicing mutation in the EDA gene, NG_009809.2 (NM_001399.5):c.793 + 3A>C r.742_793del p.Pro248Ilefs Ter15, which has never been reported before. …”
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    Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C) by Xiaolei Li, Junbiao Zhang, Xiaofeng Wang, Dawei Pu, Zhenling Zhang, Yifang Niu, Shuai Zhang, Zhenping Fan, Yuxuan Li, Peicheng Li, Hui Liu, Fenghua Lv, Yongchun Zhang, Ya’nan Li

    Published 2025-02-01
    “…Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. …”
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    A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature by Gabriele Gaggero, Teresa Battaglia, Virginia Andreotti, Andrea Rossi, Marta Ingaliso, Davide Taietti, Claudia Milanaccio, Gianluca Piatelli, Valerio Gaetano Vellone

    Published 2025-01-01
    “…To date, the GCTB’s molecular hallmark is the somatic mutation p.Gly34Trp, at the H3F3A gene (H3.3 p.Gly34Trp mutation), but in this case, the mutation H3.3 p.Gly35Trp was identified. …”
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