يعرض 1 - 10 نتائج من 1,389 نتيجة بحث عن '"GAIN-of-function mutations"', وقت الاستعلام: 1.88s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

    المؤلفون: Yucesan, Emrah, Goncu, Beyza, Ozgul, Cemil, Kebapci, Arda, Aslanger, Ayca Dilruba, Akyuz, Enes, Yesil, Gozde

    المصدر: International Journal of Neuroscience; Oct2024, Vol. 134 Issue 10, p1098-1103, 6p

    مصطلحات موضوعية: GAIN-of-function mutations, CALCIUM-dependent potassium channels, DEVELOPMENTAL delay, CELL physiology, CHROMOSOMES

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  2. 2
    دورية أكاديمية
    Mechanisms of resistance to KRASG12C inhibitors in KRASG12C-mutated non-small cell lung cancer.

    المؤلفون: Chour, Ali, Toffart, Anne-Claire, Berton, Elodie, Duruisseaux, Michael

    المصدر: Frontiers in Oncology; 2024, p1-8, 8p

    مصطلحات موضوعية: RAS proteins, TUMOR suppressor genes, NON-small-cell lung carcinoma, RAS oncogenes, GAIN-of-function mutations

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  3. 3
    دورية أكاديمية
    RNA helicase SKIV2L limits antiviral defense and autoinflammation elicited by the OAS-RNase L pathway.

    المؤلفون: Yang, Kun, Dong, Beihua, Asthana, Abhishek, Silverman, Robert H, Yan, Nan

    المصدر: EMBO Journal; Sep2024, Vol. 43 Issue 18, p3876-3894, 19p

    مصطلحات موضوعية: OLIGOADENYLATE synthetase, RNA virus infections, RNA helicase, GAIN-of-function mutations, EXOSOMES, CELL communication

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  4. 4
    دورية أكاديمية
    Transcriptional control of a stem cell factor nucleostemin in liver regeneration and aging.

    المؤلفون: Liu, Xiaoqin, Wang, Junying, Li, Fang, Timchenko, Nikolai, Tsai, Robert Y. L.

    المصدر: PLoS ONE; 9/11/2024, Vol. 19 Issue 9, p1-18, 18p

    مصطلحات موضوعية: STEM cell factor, GAIN-of-function mutations, BINDING sites, LIVER regeneration, AGING, HOMEOSTASIS

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  5. 5
    دورية أكاديمية
    Potential roles of voltage-gated ion channel disruption in Tuberous Sclerosis Complex.

    المؤلفون: Egido-Betancourt, Hailey X., Strowd III, Roy E., Raab-Graham, Kimberly F.

    المصدر: Frontiers in Molecular Neuroscience; 2024, p1-11, 11p

    مصطلحات موضوعية: POTASSIUM channels, GAIN-of-function mutations, TUBEROUS sclerosis, ION channels, CALCIUM channels, VOLTAGE-gated ion channels, SODIUM channels

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  6. 6
    دورية أكاديمية
    Increased Susceptibility of WHIM Mice to Papillomavirus-induced Disease is Dependent upon Immune Cell Dysfunction.

    المؤلفون: Wang, Wei, Pope, Ali, Ward-Shaw, Ella, Buehler, Darya, Bachelerie, Francoise, Lambert, Paul F.

    المصدر: PLoS Pathogens; 9/3/2024, Vol. 20 Issue 9, p1-18, 18p

    مصطلحات موضوعية: PRIMARY immunodeficiency diseases, HUMAN papillomavirus, BONE marrow transplantation, PAPILLOMAVIRUS diseases, GAIN-of-function mutations

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  7. 7
    دورية أكاديمية
    Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.

    المؤلفون: Ashton, Nicholas J., Di Molfetta, Guglielmo, Tan, Kübra, Blennow, Kaj, Zetterberg, Henrik, Messing, Albee

    المصدر: Neurological Sciences; Sep2024, Vol. 45 Issue 9, p4513-4518, 6p

    مصطلحات موضوعية: GLIAL fibrillary acidic protein, GAIN-of-function mutations, CYTOPLASMIC filaments, BODY fluids, CEREBROSPINAL fluid

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  8. 8
    دورية أكاديمية
    Discovery of first-in-class DOT1L inhibitors against the R231Q gain-of-function mutation in the catalytic domain with therapeutic potential of lung cancer.

    المؤلفون: Tan, Zehui, Guo, Ning, Cao, Zhi, Liu, Shuyu, Zhang, Jiayu, Ma, Deyi, Zhang, Jiahao, Lv, Wencai, Jiang, Nan, Zang, Linghe, Wang, Lihui, Zhai, Xin

    المصدر: Acta Pharmaceutica Sinica B; Aug2024, Vol. 14 Issue 8, p3605-3623, 19p

    مصطلحات موضوعية: GAIN-of-function mutations, WESTERN immunoblotting, CELL permeability, LUNG cancer, CATALYTIC domains

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  9. 9
    دورية أكاديمية
    Mechanisms of lysosomal tubulation and sorting driven by LRRK2.

    المؤلفون: Bonet-Ponce, Luis, Kluss, Jillian H., Cookson, Mark R.

    المصدر: Biochemical Society Transactions; Aug2024, Vol. 52 Issue 4, p1909-1919, 11p

    مصطلحات موضوعية: DARDARIN, PARKINSON'S disease, GAIN-of-function mutations, CELL anatomy, GENETIC variation, LYSOSOMES

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  10. 10
    دورية أكاديمية
    Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

    المؤلفون: Ren, Na, Lv, Shanshan, Li, Xiang, Shao, Chong, Wang, Ziyuan, Mei, Yazhao, Yang, Wendi, Fu, Wenzhen, Hu, Yunqiu, Sha, Ling, Hu, Weiwei, Zhang, Zhenlin, Wang, Chun

    المصدر: Osteoporosis International; Aug2024, Vol. 35 Issue 8, p1395-1406, 12p

    مصطلحات موضوعية: OSTEOPOROSIS genetics, GENETICS of blindness, DIPHOSPHONATES, BONE regeneration, RESEARCH funding, BONE density, BONE diseases, AGE distribution, OSTEOSCLEROSIS, TREATMENT effectiveness, GAIN-of-function mutations, LOW density lipoproteins, OSTEOPOROSIS, BLINDNESS, GENETIC mutation, COMPARATIVE studies, NONSENSE mutation, CELL receptors, SYMPTOMS

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