Identification of the Bovine <i>CSN3</i> Core Promoter Region and the Relationships Between <i>CSN3</i> Promoter Polymorphisms and the <i>CSN3</i> A and B Alleles by Wenqing Li, Xiaoyang Wang, Xiuyang Xu, Pinhui Wu, Tong Fu, Liyang Zhang, Tengyun Gao

“…In the genetic selection of dairy cows, mutations in the <i>CSN3</i> core promoter should be focused upon. …”
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The endonuclease activity of MCPIP1 controls the neoplastic transformation of epithelial cells via the c-Met/CD44 axis by Paulina Marona, Rafał Myrczek, Iga Piasecka, Judyta Gorka, Oliwia Kwapisz, Ewelina Pospiech, Janusz Rys, Jolanta Jura, Katarzyna Miekus

“…Our study elucidates the effects of downregulation of MCPIP1 expression and an RNase-inactivating mutation (D141N) on normal epithelial kidney cells, indicating that MCPIP1 expression is a key factor that suppresses neoplastic transformation. …”
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Decreased SynMuv B gene activity in response to viral infection leads to activation of the antiviral RNAi pathway in C. elegans. by Ashwin Seetharaman, Himani Galagali, Elizabeth Linarte, Mona H X Liu, Jennifer D Cohen, Kashish Chetal, Ruslan Sadreyev, Alex J Tate, Taiowa A Montgomery, Gary Ruvkun

“…The multivulval (Muv) phenotype of synMuv B mutants requires the presence of a second nematode-specific synMuv A gene mutation, but the enhanced RNAi of synMuv B mutants does not require a second synMuv A mutation. …”
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Clonal hematopoiesis of indeterminate potential and type 2 diabetes mellitus among patients with STEMI: from a prospective cohort study combing bidirectional Mendelian randomizatio... by Xiaoxiao Zhao, Jiannan Li, Shaodi Yan, Yu Tan, Runzhen Chen, Nan Li, Jinying Zhou, Chen Liu, Peng Zhou, Yi Chen, Hongbing Yan, Hanjun Zhao, Li Song

“…Variant allele fraction ≥ 2.0% indicated the presence of CHIP mutations. The association between CHIP and T2DM was evaluated by the comparison of (i) the prevalence of CHIP mutations among individuals with diabetes versus those without, (ii) the clinical characteristics delineated by CHIP mutations within the cohort of diabetic patients and (iii) the prognostic significance and correlation of CHIP mutations with mortality rates in T2DM subjects. …”
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Trois enclaves agricoles dans la périphérie de Lyon, vers des agricultures urbaines ? by Rémi Janin

“…What will become of these spaces : effacement in front of the urban development, agricultural mutation or new agricultures ?…”
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Los excesos del mono: salvajismo, transgresión y deshumanización en el pensamiento nahua del siglo xvi by Jaime Echeverría García

“…Nonetheless, in mythical narratives, the mutation into an animal would usually actually happen. …”
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Noms, étiquette(s) et identités dans Persuasion, de Jane Austen by Marie-Laure Massei

“…Labelled a ‘nobody’ at the beginning even though she embodies sense, constancy and fortitude, Anne Elliot is reborn as a heroine through her ability to read and decipher meanings, manners and behaviours: her new status and identity are then aptly signified by a telling mutation of the signifier after her marriage, freeing her from the sterile codes of the paternal narrative.…”
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Typology, topography and tectonics – Categories and models for the urban project by Santiago Gomes

“… If there is to be a ‘new urbanism’ – Koolhaas wrote in 1995, after declaring its death – it will be the staging of uncertainty. Mutation, unpredictability and indeterminacy characterise the contemporary urban question and are generating, after the initial bewilderment, disciplinary developments that proceed in search of hybrid forms of Planning, less and less conformative and prescriptive. …”
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NATURAL MUTAGENESIS AS A POSSIBLE CAUSAL FACTOR FOR OCCURRENCE OF OBLIGATE EMBRYONIC DIAPAUSE IN MAMMALS (A HYPOTHESIS) by G. K. Isakova

“…Available data of cytogenetics, embryology, evolutionary morphology, and evolutionary ecology allow to believe that the obligatory stage of embryonic diapause might occur in single individuals with indifferent taxonomic groups in consequence of chromosome mutation caused by alteration in the environment and affected the expression of genes controlling the timing of embryogenesis.…”
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Combined Diagnosis of PD Based on the Multidimensional Parameters by Mohammad Heidari

“…Diagnose signals are found with the method based on information fusion and semisupervised learning for HFC PD, adaptive mutation parameters of particle entropy for ultrasonic signals, and IIA-ART2A neural network for UHF signals. …”
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

“…To evaluate accuracy of selected in silico tools (SIFT, FATHMM, MutationAssessor, PolyPhen-2, CONDEL, MutationTaster, MutPred, Align GVGD, and PROVEAN), we tested nine missense variants with previously confirmed clinical significance in a large cohort of deaf patients and control groups from the Sakha Republic (Eastern Siberia, Russia): Сх26: p.Val27Ile, p.Met34Thr, p.Val37Ile, p.Leu90Pro, p.Glu114Gly, p.Thr123Asn, and p.Val153Ile; Cx30: p.Glu101Lys; Cx31: p.Ala194Thr. …”
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Comprehensive analysis of a-and b-thalassemia genotypes and hematologic phenotypes by Heng Wang, Hai Huang, Yaping Chen, Xie Dan, Bangquan An, Shengwen Huang

“…In b-thalassemia, b0 gene mutation did not produce b-globin, and b+ mutation expressed some bglobin, but it was lower than normal level. b0/b0 had no bglobin production, and long-term blood transfusion was required to maintain life. …”
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A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report by Jingjing Chai, Jiaqi Lv, Jian Xiong, Xiuwen Chen, Senyuan Luo, Zhiguo Luo, Zhiguo Luo, Ming Luo

“…Whole exome sequencing (WES) indicated a tumor mutation burden (TMB) of 2.98 mut/Mb, microsatellite stability (MSS), and identified 10 missense mutations, 1 nonsense mutation, and 1 frameshift insertion. …”
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Thermal properties and non-bonded interactions in human PMP2 variants: A molecular dynamics study by Prabin Aryal, Jhulan Powrel

“…This disease is caused due to mutation in the human peripheral myelin protein 2 (PMP2) responsible for myelin formation and maintenance. …”
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Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model by Toshio Miki, Ludivina Vazquez, Lisa Yanuaria, Omar Lopez, Irving M. Garcia, Kazuo Ohashi, Natalie S. Rodriguez

“…The sequence restoration without any indel mutation was further confirmed by Sanger sequencing. …”
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Results of Selective Biochemical Screening for Lysosomal Acid Lipase Deficiency and Sequencing of the <i>LIPA</i> Gene in the Risk Group Patients by S. V. Shtykalova, A. A. Egorova, O. S. Glotov, A. V. Kiselev, I. Yu. Kogan

“…Along with this mutation, two previously undescribed mutations (c.35dup and c.176A&gt;G) were discovered in a compound heterozygous state.Conclusions. …”
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GH, IGF-1, and Age Are Important Contributors to Thyroid Abnormalities in Patients with Acromegaly by Xia Wu, Lu Gao, Xiaopeng Guo, Qiang Wang, Zihao Wang, Wei Lian, Wei Liu, Jian Sun, Bing Xing

“…Specimens of pituitary adenomas and thyroid cancer were collected for BRAF mutation assessments. Results. Thyroid morphological abnormalities were found in 72 (77.4%) patients. …”
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Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors by Hiroshi Kobayashi, Masahiro Shin, Naohiro Makise, Aya Shinozaki-Ushiku, Masachika Ikegami, Yuki Taniguchi, Yusuke Shinoda, Shinji Kohsaka, Tetsuo Ushiku, Katsutoshi Oda, Kiyoshi Miyagawa, Hiroyuki Aburatani, Hiroyuki Mano, Sakae Tanaka

“…Next-generation sequencing revealed that these lesions harbored a common somatic mutation in epidermal growth factor receptor (EGFR), c.3617A>C, which is not considered a pathogenic chordoma mutation, thus indicating that these lesions were not multicentric but rather multiple metastatic tumors. …”
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Thermal properties and non-bonded interactions in human PMP2 variants: A molecular dynamics study by Prabin Aryal, Jhulan Powrel

“…This disease is caused due to mutation in the human peripheral myelin protein 2 (PMP2) responsible for myelin formation and maintenance. …”
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Origanum majorana Essential Oil Lacks Mutagenic Activity in the Salmonella/Microsome and Micronucleus Assays by Andrea dos Santos Dantas, Luiz Carlos Klein-Júnior, Miriana S. Machado, Temenouga N. Guecheva, Luciana D. dos Santos, Régis A. Zanette, Fernanda B. de Mello, João Antonio Pêgas Henriques, João Roberto Braga de Mello

“…Cytotoxicity was detected at concentrations higher than 0.04 μL/plate in the absence of S9 mix and higher than 0.08 μL/plate in the presence of S9 mix and no gene mutation increase was observed. For the in vitro mammalian cell micronucleus test, V79 Chinese hamster lung fibroblasts were used. …”
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