High tumor mutational burden predicts favorable response to anti-PD-(L)1 therapy in patients with solid tumor: a real-world pan-tumor analysis by Sehhoon Park, Jaeyun Jung, You Jeong Heo

“…Background Tumor mutation burden (TMB) is an important biomarker to predict response to anti-PD-L1 treatment across cancer types. …”
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Predicting the impact of missense mutations on an unresolved protein’s stability, structure, and function: A case study of Alzheimer’s disease-associated TREM2 R47H variant by Joshua Pillai, Kijung Sung, Chengbiao Wu

“…However, AF2 falls short of predicting the effects of missense mutations on unresolved protein structures that may be informative to efforts in personalized medicine. …”
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Antibody-mediated degradation of 4R-tau restores mitochondrial membrane polarization in human induced pluripotent stem cell-derived neurons with the MAPT 10+16 mutation by Dale O. Starkie, Charles Arber, Terry Baker, Daniel J. Lightwood, Selina Wray

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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival by Anna Darlene van der Heiden, Raphaela Pensch, Sophie Agger, Heather L. Gardner, William Hendricks, Victoria Zismann, Shukmei Wong, Natalia Briones, Bryce Turner, Karin Forsberg-Nilsson, Cheryl London, Kerstin Lindblad-Toh, Maja Louise Arendt

“…We focused on identifying genes that were significantly or recurrently mutated with coding point mutations, copy number aberrations, and their associations with patient outcomes. …”
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Impact of meropenem exposure on fluoroquinolone and carbapenem resistance in Pseudomonas aeruginosa infection in inpatients in a Japanese university hospital: Insights into oprD mutations and efflux pump overexpression by Tadanori Yamochi, Kazuhisa Ugajin, Rintaro On, Sho Inoue, Hiromi Ikeda, Toshiko Yamochi, Masafumi Takimoto, Issei Tokimatsu

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The R203M and D377Y mutations of the nucleocapsid protein promote SARS-CoV-2 infectivity by impairing RIG-I-mediated antiviral signaling. by Yongkui Li, Moran Li, Heng Xiao, Feng Liao, Miaomiao Shen, Weiwei Ge, Junxian Ou, Yuqing Liu, Lumiao Chen, Yue Zhao, Pin Wan, Jinbiao Liu, Jun Chen, Xianwu Lan, Shaorong Wu, Qiang Ding, Geng Li, Qiwei Zhang, Pan Pan

“…The viral protein mutations can modify virus-host interactions during virus evolution, and thus alter the extent of infection or pathogenicity. …”
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A novel CCR5 mutation common in sooty mangabeys reveals SIVsmm infection of CCR5-null natural hosts and efficient alternative coreceptor use in vivo. by Nadeene E Riddick, Emilia A Hermann, Lamorris M Loftin, Sarah T Elliott, Winston C Wey, Barbara Cervasi, Jessica Taaffe, Jessica C Engram, Bing Li, James G Else, Yingying Li, Beatrice H Hahn, Cynthia A Derdeyn, Donald L Sodora, Cristian Apetrei, Mirko Paiardini, Guido Silvestri, Ronald G Collman

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<i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> Hot-Spot Mutations in Relation to Sidedness of Primary Colorectal Cancer: A Retrospective Cohort Study by Omer Abdelgadir, Yong-Fang Kuo, Anthony O. Okorodudu, M. Firoze Khan, Yu-Wei Cheng, Jianli Dong

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Association of Androgen-Receptor Gene Mutations with the Copy Number of Androgen-Receptor Silk Protein A Complex and Glutathione-S-Transferases T1 and M1 in Prostate Cancer Patients by Yan Zhang, Xiangdi Meng, Zhaosen Ma, Zhou Sun, Zhixin Wang

“…The purpose of our work was to explore the association of mutations in the androgen receptor gene and copy numbers of the androgen-receptor silk protein A complex with glutathione-S-transferases T1 and M1 in prostate cancer patients. …”
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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln) by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy

“…Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G>A;p.Arg204Gln). Conclusions. …”
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Novel platinum nanoclusters (Pt NCs) induce mitochondrial apoptosis and damaging autophagy for the treatment of osteosarcoma—from the perspective of P53 mutation status in different cell lines by Jialin Wang, Haodi Yue, Xin Huang, Hongjian Liu, Mengjun Zhang

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Putative and pretreatment drug resistance mutations in reverse transcriptase gene among untreated chronic hepatitis B patients at Arifin Achmad Regional District Hospital, Riau, Indonesia by Arfianti Arfianti, Fauzia Andrini Djojosugito, Maisaroh Maisaroh, Hendra Asputra, Dita Kartika Sari, Tubagus Odih Rhomdani Wahid

“… Background: Mutations within the hepatitis B virus (HBV) reverse transcriptase (RT) gene have been associated with drug resistance against nucleos(t)ide analogs (NAs). …”
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A Study of the Relationship between the Polymorphism and Mutation of rs682429 and rs3781590 in the LRP5 Gene and Bone Metabolism in Postmenopausal Type 2 Diabetic Women in Xinjiang by Jun Li, SiYuan Li, HuiRong Zhao, JiaJia Li, Shuang Wang, YanQiu Shi

“…To explore the expression of the polymorphism and mutation of rs682429 and rs3781590 in the low-density lipoprotein receptor-related protein 5 (LRP5) genotype and to analyse the relationship of bone mineral density (BMD) and bone metabolism markers in postmenopausal women with type-2 diabetes mellitus (T2DM) in Xinjiang, China, to provide a basis for prevention and treatment of the disease. …”
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Optimization of Rendering Parameters of Cesium 3DTiles Model Based on Differential Evolution Algorithm by Doujun Zhang, Yong Wu, Youcong Ni, Tinghuang Zhang, Chenxiang Gao

Subjects: “…mutation strategies pool…”
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Research Progress on the Relationship between Peripheral Somatosensory Neurons and Autism Spectrum Disorder by ZHUANG Wanyu, HONG Yu, LIN Dong, HUANG Longsheng

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Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data by Jaewon Kim, Hwanseok Rhee, Jhingook Kim, Sanghyuk Lee

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Congenital sideroblastic anaemia by Kavya Sree Velchuri, Mallikarjuna Shetty, Adiraju Krishna Prasad, Purna Surya Kiran Pentakota

Subjects: “…solute carrier family 25 member 38 mutation…”
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“MUTAÇÃO À BRASILEIRA”: UMA ANÁLISE EMPÍRICA DO ART. 52, X, DA CONSTITUIÇÃO by Carlos Victor Nascimento dos Santos

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Herbicide resistance in Leptochloa chinensis (L.) Nees populations from different regions of Jiangsu Province, China: sensitivity differences and underlying mechanisms by Peng Xu, Ke Wang, Yawen Ju, Yousheng Fu, Axiu Zhu, Kaige Cao, Hongchun Wang

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Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy by Mafalda Bacalhau, Filipa C. Ferreira, Marcelo Folhadella M. F. Azevedo, Talita P. Rosa, Camilla D. Buarque, Miquéias Lopes-Pacheco

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