Showing 501 - 520 results of 2,988 for search '"mutation"', query time: 0.08s Refine Results
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    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

    Published 2017-01-01
    “…Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. …”
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    Prevalence of HIV Drug Resistance Mutations in HIV Type 1 Isolates in Antiretroviral Therapy Naïve Population from Northern India by S. Sinha, H. Ahmad, R. C. Shekhar, N. Kumar, L. Dar, J. C. Samantaray, S. K. Sharma, A. Bhargava, R. M. Pandey, R. L. Mitsuyasu, J. L. Fahey

    Published 2012-01-01
    “…One patient had a major RT mutation M184V, known to confer resistance to lamivudine, and another had a major protease inhibitor (PI) mutation D30N that imparts resistance to nelfinavir. …”
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    mRNA vaccines with RBD mutations have broad-spectrum activity against SARS-CoV-2 variants in mice by Xiaoming Liang, Yuxia Yuan, Junbin Wang, Cong Tang, Yun Yang, Yanan Zhou, Hao Yang, Qing Huang, Wenhai Yu, Haixuan Wang, Yuhuan Yan, Dongdong Lin, Yanwen Li, Xuena Du, Longhai Yuan, Wenqi Quan, Daoju Wu, Shuaiyao Lu

    Published 2025-01-01
    “…Abstract The emergence of SARS-CoV-2 variants with defined mutations that enhance pathogenicity or facilitate immune evasion has resulted in a continual decline in the protective efficacy of existing vaccines. …”
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    Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesis imperfecta. by Michelangelo Corcelli, Rachel Sagar, Ellen Petzendorfer, Mohammad Mehedi Hasan, Fleur S van Dijk, Anna L David, Pascale V Guillot

    Published 2025-01-01
    “…We showed that in OIM, the Col1a2 mutation results in a multifactorial inhibition of the osteogenic differentiation and maturation as well as inhibition of osteoclastogenesis. …”
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    Wild-type bone marrow cells repopulate tissue resident macrophages and reverse the impacts of homozygous CSF1R mutation. by Dylan Carter-Cusack, Stephen Huang, Sahar Keshvari, Omkar Patkar, Anuj Sehgal, Rachel Allavena, Robert A J Byrne, B Paul Morgan, Stephen J Bush, Kim M Summers, Katharine M Irvine, David A Hume

    Published 2025-01-01
    “…The absence of macrophages in rats with a homozygous mutation in the colony-stimulating factor 1 receptor (Csf1r) gene (Csf1rko) severely compromises pre-weaning somatic growth and maturation of organ function. …”
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    Fibroblast Growth Factor Receptor 3 (FGFR3)–Analyses of the S249C Mutation and Protein Expression in Primary Cervical Carcinomas by Haiyan Dai, Ruth Holm, Gunnar B. Kristensen, Vera M. Abeler, Anne‐Lise Børresen‐Dale, Åslaug Helland

    Published 2001-01-01
    “…We have analysed 91 cervical carcinomas for this specific S249C mutation using amplification created restriction site methodology (ACRS), and detected no mutations. …”
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    Mutation yellow in agouti loci prevents age-related increase of skeletal muscle genes regulating free fatty acids oxidation by Y. V. Piskunova, A. Y. Kazantceva, A. V. Baklanov, N. M. Bazhan

    Published 2018-04-01
    “…The lethal yellow mutation in agouti loci (Ay mutation) reduces the activity of melanocortin (MC) receptors and causes hyperphagia, obesity and type two diabetes mellitus in aging mice (Ay mice). …”
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    RAS/BRAF Circulating Tumor DNA Mutations as a Predictor of Response to First-Line Chemotherapy in Metastatic Colorectal Cancer Patients by Jiannan Yao, Wanchun Zang, Yang Ge, Nathaniel Weygant, Pan Yu, Lei Li, Guanhua Rao, Zhi Jiang, Rui Yan, Linjia He, Yang Yu, Mulan Jin, Gang Cheng, Guangyu An

    Published 2018-01-01
    “…Conclusion. ctDNA was comparable with tumor tissue for mutation detection. RAS/BRAF mutations detected in ctDNA predict a worse PFS in mCRC patients with first-line chemotherapy. …”
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