Behçet Disease-Like Symptoms with a Novel COPA Mutation by E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman

“…COPA syndrome is a recently described autosomal dominant disorder with key immune dysregulation caused by defects within the COPA gene. These mutations lead to endoplasmic reticulum stress and autoimmune response with upregulation of Th17 cytokines. …”
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Effects of selection and mutation on epidemiology of X-linked genetic diseases by Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, Martin Corless, Carmen Del Vecchio

“…The model accounts for both de novo mutations (i.e., affected sibling born to unaffected parents) and selection (i.e., distinct fitness rates depending on individual's health conditions). …”
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Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia by Stephen E. Langabeer, Karl Haslam, David O’Brien, Johanna Kelly, Claire Andrews, Ciara Ryan, Richard Flavin, Patrick J. Hayden, Christopher L. Bacon

“…The as yet undescribed scenario of pro-B cell acute lymphoblastic leukemia arising in CALR mutated essential thrombocythemia is presented. Intensive treatment for the leukemia allowed for expansion of the original CALR mutated clone. …”
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Mutator Circuit for Memcapacitor Emulator Using Operational Transconductance Amplifiers by Mustafa Konal, Fırat Kacar

Subjects: “…mutator…”
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Predicting the evolution of bacterial populations with an epistatic selection-mutation model by Raul Donangelo, Hugo Fort

“…It incorporates two recently noticed phenomena related to mutations: (i) the fact that the marginal improvement from a beneficial mutation declines with increasing fitness or diminishing returns epistasis and (ii) for some hypermutator variants, the mutation rate for the bacterial DNA undergoes a sudden increase by at least one order of magnitude. …”
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Gene mutation, clinical characteristics and pathology in resectable lung adenocarcinoma by Ji’an Zou, Wei Han, Yan Hu, Chao Zeng, Jina Li, Weixuan Lei, Jieming Cao, Quanming Fei, Mengqi Shao, Junqi Yi, Zeyu Cheng, Li Wang, Fang Wu, Wenliang Liu

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Comprehensive analysis of targetable mutations and tumor microenvironment in urachal cancer by David J. Benjamin, Tolulope T. Adeyelu, Andrew Elliott, Sourat Darabi, Thomas Lee, Rana R. McKay, Matthew J. Oberley, Arash Rezazadeh Kalebasty

“…Our results showed that TP53, GNAS and KRAS mutations were common in urachal cancer with increased prevalence of TP53 mutation in urachal cohorts without MAPK-alterations. …”
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Systemic therapy of skin metastatic melanoma with BRAF gene mutation by Yu. S. Shakh-Paronyants, S. V. Cheporov, N. P. Shiryaev, A. V. Ukgarskiy, P. V. Nesterov, N. S. Korzina

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Bayesian Analysis of Complex Mutations in HBV, HCV, and HIV Studies by Bing Liu, Shishi Feng, Xuan Guo, Jing Zhang

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Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy by Yan Qin, Xiao-Jing Sun, Yi-Fang Hu, Meng Jing, Xiao-Juan Yu, Ming-Hui Zhao, Ying Tan

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Représentations idéologiques d'une francophonie albertaine en mutation by Sylvie Roy, Fanny Macé

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GTExome: Modeling commonly expressed missense mutations in the human genome. by Jill Hoffman, Henry Tan, Clara Sandoval-Cooper, Kaelyn de Villiers, Scott M Reed

“…A web application, GTExome, is described that quickly identifies, classifies, and models missense mutations in commonly expressed human proteins. GTExome can be used to categorize genomic mutation data with tissue specific expression data from the Genotype-Tissue Expression (GTEx) project. …”
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Mutational signature analysis predicts bacterial hypermutation and multidrug resistance by Kalen M. Hall, Leonard G. Williams, Richard D. Smith, Erin A. Kuang, Robert K. Ernst, Christine M. Bojanowski, William C. Wimley, Lisa A. Morici, Zachary F. Pursell

“…Mutational signature analysis of patient samples is a promising diagnostic tool that may predict MDR and guide precision-based medical care.…”
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An Improved Directed Crossover Genetic Algorithm Based on Multilayer Mutation by Feng Xie, Quansheng Sun, Yinfeng Zhao, Haibo Du

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Cancer Is to Embryology as Mutation Is to Genetics: Hypothesis of the Cancer as Embryological Phenomenon by Jaime Cofre, Eliana Abdelhay

“…Despite numerous advances in cell biology, genetics, and developmental biology, cancer origin has been attributed to genetic mechanisms primarily involving mutations. Embryologists have expressed timidly cancer embryological origin with little success in leveraging the discussion that cancer could involve a set of conventional cellular processes used to build the embryo during morphogenesis. …”
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The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome by Min Xu, Yujie Shi, Li Lin, Liang Wang, Xianzhong Zhu, Jinglin Xiong, Jiawen Yin, Qing Qi, Wenlin Yang

“…After rigorous screening, we included 162 patients with NS-associated symptoms and SPINK5 mutations. We characterized the distribution and mutation types of allele variants. …”
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Birt-Hogg-Dubé Syndrome: Report of a New Mutation by Habib U Rehman

“…Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. …”
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Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation by Imad Fadl-Elmula, Rania Giha, Sawsan AH Deaf, Lamyaa Ahmed El Hassan, Ahmed M. Hassan, Mohamed AR Arbab

“…Genomic DNA was extracted and mutation analysis for INI1 gene using primer of exon 4, 5, 7, and 9 showed mutation involving exon 9. …”
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Configurations, deformations, mutations. Criteria of morphological analysis in adaptive reuse by Elena Guidetti, Alessandro Massarente

“…Therefore, starting from the hypothesis that a building whose original function has mutated can no longer be characterized through it, but rather through the permanence of its form, we intend to demonstrate that a project of adaptive reuse of a pre-existing building implies a morphological potential through which it is possible to determine diversified cognitive approaches and transformation scenarios.…”
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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families by Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra

“…EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. …”
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