Changes to Intermediary Metabolites in Sporadic and LRRK2 Parkinson’s Disease Demonstrated by Proton Magnetic Resonance Spectroscopy by Jan O. Aasly, Oddbjørn Sæther, Krisztina K. Johansen, Tone F. Bathen, Guro F. Giskeødegård, Linda R. White

“…To study the levels of intermediary metabolites in cerebrospinal fluid (CSF) from patients with PD, either of sporadic type or in carriers of the LRRK2 p.G2019S mutation. Methods. Results from patients with sporadic PD or LRRK2-PD were compared with asymptomatic LRRK2 mutation carriers and healthy control individuals. …”
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Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2 by Yan Long, Chenghan Wang, Jie Xiao, Yunhua Huang, Xiaoting Ling, Chaoyu Huang, Ying Chen, Jiaqi Luo, Rongheng Tang, Faquan Lin, Yifang Huang

“…The discovery of this novel mutation expands the mutation spectrum of the ZBTB24 gene and improves our understanding of the molecular mechanisms underlying ICF.…”
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Identification of the clinical and genetic characteristics of gliomas with gene fusions by integrated genomic and transcriptomic analysis by Guo-zhong Yi, Hua-yang Zhang, Tian-shi Que, Shan-qiang Qu, Zhi-yong Li, Song-tao Qi, Wen-yan Feng, Guang-long Huang

“…In addition, this study also conducted a comparison of the genetic characteristics, tumor microenvironment, mutation burden and survival between glioma patients with or without gene fusions. …”
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Mondes de l’écrit et société de l’information à l’époque moderne by Jérôme Lamy, Johann Petitjean

“…New publics, reading situations and media (like the press) support and give substance to this deep mutation of early modern information.…”
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Modeling of auditory neuropathy spectrum disorders associated with the TEME43 variant reveals impaired gap junction function of iPSC-derived glia-like support cells by Xiaoming Kang, Xiaoming Kang, Lu Ma, Lu Ma, Lu Ma, Jie Wen, Jie Wen, Wei Gong, Wei Gong, Xianlin Liu, Xianlin Liu, Yihan Hu, Yihan Hu, Zhili Feng, Zhili Feng, Qiancheng Jing, Qiancheng Jing, Yuexiang Cai, Yuexiang Cai, Sijun Li, Xinzhang Cai, Kai Yuan, Yong Feng, Yong Feng, Yong Feng, Yong Feng, Yong Feng

“…Its etiology is complex and can be broadly categorized into genetic and non-genetic factors. TMEM43 mutation is identified as a causative factor in ANSD. …”
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Stability of equilibria of a predator-prey model of phenotype evolution by Sílvia Cuadrado

“…We consider a selection mutation predator-prey model for the distribution of individuals with respect to an evolutionary trait. …”
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Theoretical issues in the conservation of contemporary art by Rosario Llamas-Pacheco

“…Thanks to the artist it is possible to document the current production in relation to the mutation and inevitable transformation of matter, determining when the degradation will affect the quiddity of the works of art.…”
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Modified shuffled frog-leaping algorithm to solve traveling salesman problem by LUO Xue-hui, YANG Ye, LI Xia

“…Modified shuffled frog-leaping algorithm to solve TSP was proposed,which presented the concept of adjustment sequence to design the strategy of local searching,and added the mutation operation in the global exchange of information.Experimental results indicate that,compared with genetic algorithm and particle swarm optimization algorithm,the proposed algorithm has more powerful search capability and more strong robustness in solving TSP.…”
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Structurer à l’étape de la retouche by Gaëlle Pentier

“…The pictorial creation is in constant mutation in its ways of expression and materials. This evolution gives rise to new problematic which can challenge the current retouching methods.The structural retouching consists in reintegrating the colors and the physical relief of a lacuna in one step. …”
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« Discipliner les villes coloniales » : la police et l’ordre urbain au Dahomey pendant l’entre-deux-guerres by Bénédicte Brunet-La Ruche

“…From the control of public hygiene to the repression of vagrancy, this article apprehends the context of this mutation, the fears of authorities related to mobility in colonial cities. …”
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Screening of <em>FecLL</em> prolific allele of the <em>B4GALNT2</em> gene in Algerian sheep populations by Assia Hadjazi, Fatima Zahra Belharfi, Fatima Zohra Mahammi, Stéphane Fabre, Semir Bechir Suheil Gaouar, Nacera Tabet-Aoul

“…Managing this mutation in Algerian D’man flocks could help improve the numerical productivity of D’man sheep in Algeria. …”
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Ultrasound-guided microwave ablation versus surgery for low-risk solitary papillary thyroid microcarcinoma: a propensity-matched cohort study by Yujie Ren, Yujiang Li, Xiaoqiu Chu, Guofang Chen, Xue Han, Yueting Zhao, Chao Liu, Jianhua Wang, Shuhang Xu

“…MWA may represent a viable alternative to conventional surgical approaches, especially for patients harboring the BRAFV600E mutation.…”
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Epidermal Growth Factor Receptor Exon 19 Deletion Subtypes Do Not Influence Survival Outcomes Following First-line Epidermal Growth Factor Receptor-tyrosine Kinase Inhibitors in Ad... by Yan-Jei Tang, John Wen-Cheng Chang, Chen-Yang Huang, Yueh-Fu Fang, Ching-Fu Chang, Cheng-Ta Yang, Chih-Hsi Scott Kuo, Ping-Chih Hsu, Chiao-En Wu

“…Afatinib showed better activity than first-generation TKIs and should be preferred for patients with del19 mutations.…”
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PRMT7: A Pivotal Arginine Methyltransferase in Stem Cells and Development by Bingyuan Wang, Mingrui Zhang, Zhiguo Liu, Yulian Mu, Kui Li

“…PRMT7 deficiency or mutation led to severe developmental delay in mice and humans, which is possibly due to its crucial functions in stem cells. …”
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Search for clinical, genetic, morphological and immunohistochemical predictors of parathyroid cancer recurrence by Ekaterina I. Kim, Anna K. Eremkina, Alina R. Elfimova, Natalia G. Mokrysheva

“…We did not reveal any associations between disease recurrence and sex, age, volume of surgical treatment, germline mutation in the CDC73, parafibromin expression and Ki-67 in tumor tissue. …”
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Immunopathology of Airway Surface Liquid Dehydration Disease by Brandon W. Lewis, Sonika Patial, Yogesh Saini

“…Several mice models of Cftr mutation have been developed; however, none of these models recapitulate human CF-like mucoobstructive lung disease. …”
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Glycosylation of ceramide synthase 6 is required for its activity by Alexandra J. Straus, Grace Mavodza, Can E. Senkal

“…Further, the defective CerS6 with N18A mutation also had defects in GSK3β, AKT, JNK, and STAT3 signaling. …”
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The negative off-response driven by M-cone and depolarizing bipolar cell in the rat electroretinogram by Tao Chen, Yuting Su, Weiming Yan, Junhui Xue, Zuoming Zhang

“…Furthermore, the ON/OFF responses of other two types of mutation rats, the middle-wavelength opsin cone dysfunction (MCD) rats and congenital stationary night blindness (CSNB) rats, were recorded. …”
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The Spatiotemporal Variations of Runoff in the Yangtze River Basin under Climate Change by Ziwei Xiao, Peng Shi, Peng Jiang, Jianwei Hu, Simin Qu, Xingyu Chen, Yingbing Chen, Yunqiu Dai, Jianjin Wang

“…In this paper, we analyzed the runoff changes in the Yangtze River Basin (YRB) including the spatiotemporal characteristics of intra-annual variation, the trend, the mutation point, and the period of annual runoff using various statistical methods. …”
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First molecules to reactivate RASG12V GTPase activity by Aneta Wlodarczyk, Cezary Treda, Marcin Pacholczyk, Adrianna Rutkowska, Marta Wegierska, Amelia Kierasinska-Kalka, Katarzyna Wasiak, Damian Ciunowicz, Dagmara Grot, Pawel Glowacki, Ewelina Stoczynska-Fidelus, Piotr Rieske

“…The analysed cell line (SW-480) with RAS mutations does not always show increased ERK and AKT activity. …”
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