Deciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations by Ayat Kadhi, Ayat Kadhi, Ayat Kadhi, Edward Eid, Michel J. Massaad, Inaam El-Rassy, Dana Maria Khoury, Yutaka Shimomura, Nelly Rubeiz, Mazen Kurban, Mazen Kurban, Mazen Kurban, Georges Nemer, Georges Nemer

“…This was evident from the presence of IL17RA in the patient’s peripheral blood mononuclear cells (PBMCs) and the ability of the mutant IL17RA to dimerize with both wild-type protein and its partners IL17RC and IL17RD. …”
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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

“…Specifically, approximately 80% of the mutant clones resulted from the in-frame insertion of 126 bases in intron 16, while the remaining 20% showed an in-frame deletion of exon 16 (c.1383_1496del). …”
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MftG is crucial for ethanol metabolism of mycobacteria by linking mycofactocin oxidation to respiration by Ana Patrícia Graça, Vadim Nikitushkin, Mark Ellerhorst, Cláudia Vilhena, Tilman E Klassert, Andreas Starick, Malte Siemers, Walid K Al-Jammal, Ivan Vilotijevic, Hortense Slevogt, Kai Papenfort, Gerald Lackner

“…Gene deletion experiments in Mycolicibacterium smegmatis demonstrated a growth defect of the ∆mftG mutant on ethanol as a carbon source, accompanied by an arrest of cell division reminiscent of mild starvation. …”
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Overexpression of multiple cytochrome P450 genes with and without knockdown resistance mutations confers high resistance to deltamethrin in Culex quinquefasciatus by Saowanee Chamnanya, Benyapa Kiddela, Jassada Saingamsook, Woottichai Nachaiwieng, Nongkran Lumjuan, Pradya Somboon, Jintana Yanola

“…The kdr L1014F mutation was found in Cq_SP-R and its parent Cq_SP strains with a significantly higher mutant allele frequency in the survivor mosquitoes than in dead mosquitoes (P < 0.0001). …”
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Sporothrix brasiliensis Gp70 is a cell wall protein required for adhesion, proper interaction with innate immune cells, and virulence by Leonardo Padró-Villegas, Manuela Gómez-Gaviria, Iván Martínez-Duncker, Luz A. López-Ramírez, José A. Martínez-Álvarez, Gustavo A. Niño-Vega, Héctor M. Mora-Montes

“…Here, we generated S. brasiliensis mutants, where GP70 was silenced. In S. schenckii, this gene encodes a glycoprotein with adhesive properties required for virulence. …”
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Pseudomonas aeruginosa alkyl quinolone response is dampened by Enterococcus faecalis by Maggie M. Fink, Abigail A. Weaver, Dharmeshkumar Parmar, Jon E. Paczkowski, Lingyun Li, Maggie K. Klaers, Ella A. Junker, Elizabeth A. Jarocki, Jonathan V. Sweedler, Joshua D. Shrout

“…Reduced alkyl quinolones are important to E. faecalis as these will grow in supernatant from a quinolone mutant but not P. aeruginosa wild-type in planktonic culture. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…The accuracy in diagnosing IDH-mutant astrocytoma, oligodendroglioma, and IDH-wild-type glioblastoma was 0.66, surpassing the human pathologist average of 0.62 (0.54–0.67). …”
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Serpina3k lactylation protects from cardiac ischemia reperfusion injury by Le Wang, Dandan Li, Fang Yao, Shanshan Feng, Chao Tong, Rongjia Rao, Meiyan Zhong, Xianqiang Wang, Wei Feng, Zhan Hu, Bo Jin, Li Wang, Shengshou Hu, Bingying Zhou

“…Using Serpina3k knockout mice and mice overexpressing its lactylation-deficient mutant, we find that Serpina3k protects from cardiac injury in a lysine 351 lactylation-dependent manner. …”
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An EED/PRC2‐H19 Loop Regulates Cerebellar Development by Pei‐Pei Liu, Xiao Han, Xiao Li, Shang‐Kun Dai, Ya‐Jie Xu, Lin‐Fei Jiao, Hong‐Zhen Du, Li‐Hua Zhao, Rong‐Feng Li, Zhao‐Qian Teng, Yun‐Gui Yang, Chang‐Mei Liu

“…Finally, molecular and genetic evidence provides that increased H19 expression is responsible for cerebellar hypoplasia and motor defects in EED mutant mice. Thus, this study demonstrates that EED, H19 forms a negative feedback loop, which plays a crucial role in cerebellar morphogenesis and controls cerebellar development.…”
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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

“…Results. (1) The rs682429 polymorphism of the LRP5 genotype distribution was statistically significant (P<0.05) in group B compared with group A. (2) The triglycerides (TG) of women with the CT/TT genotype (mutant type) were higher than those of women with the CC genotype (wild type) (2.37±1.30 vs. 1.52±0.83, P<0.05) at the rs3781590 site of the LRP5 gene in group D. (3) Multiple linear regression analysis showed that TG (β=0.034, P<0.05) and body mass index (BMI) (β=0.013, P<0.05) were the influencing factors of BMD (L1-4) in T2DM patients. …”
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Development and Validation of Multiplex-PCR Assay for <i>β-Carotene hydroxylase</i> and <i>γ-Tocopherol methyl transferase</i> Genes Governing Enhanced Multivitamins in Maize for I... by Munegowda Manoj Gowda, Vignesh Muthusamy, Rashmi Chhabra, Hriipulou Duo, Saikat Pal, Nisrita Gain, Ashvinkumar Katral, Ravindra K. Kasana, Rajkumar U. Zunjare, Firoz Hossain

“…Traditional maize possesses low concentrations of provitamin-A and vitamin-E, leading to various health concerns. Mutant alleles of <i>crtRB1</i> and <i>vte4</i> that enhance β-carotene (provitamin-A) and α-tocopherol (vitamin-E), respectively, in maize kernels have been explored in several biofortification programs. …”
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Refined methodology for quantifying Pseudomonas aeruginosa virulence using Galleria mellonella by Christopher M. R. Axline, Travis J. Kochan, Sophie Nozick, Timothy Ward, Tania Afzal, Issay Niki, Sumitra D. Mitra, Ethan VanGosen, Julia Nelson, Aliki Valdes, David Hynes, William Cheng, Joanne Lee, Prarthana Prashanth, Timothy L. Turner, Nathan B. Pincus, Marc H. Scheetz, Kelly E. R. Bachta, Alan R. Hauser

“…In this model, bacterial virulence is typically measured by determining the 50% lethal dose (LD50) of a bacterial strain or mutant. The use of G. mellonella to study Pseudomonas aeruginosa pathogenesis, however, is challenging because of the extreme sensitivity of larvae to this bacterium. …”
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Exploring the Role of C-C Motif Chemokine Ligand-2 Single Nucleotide Polymorphism in Pulmonary Tuberculosis: A Genetic Association Study from North India by Sanjay K. Biswas, Mayank Mittal, Ekata Sinha, Vandana Singh, Nidhi Arela, Bharat Bajaj, Pramod K. Tiwari, Vishwa M. Katoch, Keshar K. Mohanty

“…Our analysis indicated that the homozygous mutant in both -2518 GG (OR=2.07, p=0.02) and -362 CC (OR=1.92, p=0.03) genotypes was associated with susceptibility to pulmonary TB. …”
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Preoperative prediction of IDH genotypes and prognosis in adult-type diffuse gliomas: intratumor heterogeneity habitat analysis using dynamic contrast-enhanced MRI and diffusion-we... by Xingrui Wang, Zhenhui Xie, Xiaoqing Wang, Yang Song, Shiteng Suo, Yan Ren, Wentao Hu, Yi Zhu, Mengqiu Cao, Yan Zhou

“…Compared to the IDH wild-type group, the IDH mutant group exhibited lower mean Ktrans values in Habitats 1 and 2 (both P < 0.001), higher volume (P < 0.05) and volume percentage (pVol, P < 0.01) of Habitat 2, and lower volume and pVol of Habitat 3 (both P < 0.001). …”
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Genome-wide transcriptome analysis and drug target discovery reveal key genes and pathways in thyroid cancer metastasis by Minjing Zou, Amal Qattan, Monther Al-Alwan, Hazem Ghebeh, Naif Binjumah, Latifa Al-Haj, Khalid S. A. Khabar, Abdulmohsen Altaweel, Falah Almohanna, Abdullah M. Assiri, Abdelilah Aboussekhra, Ali S. Alzahrani, Ali S. Alzahrani, Yufei Shi

“…Mertk, a member of the TAM (Tyro, Axl, Mertk) family of RTKs, was also overexpressed in Met cells, which led to increased MAPK activation, epithelial–mesenchymal transition (EMT), and enrichment of cancer stem cells. Braf-mutant Met cells developed resistance to BRAFV600E inhibitor PLX4720, but remained sensitive to β-catenin inhibitor PKF118-310.ConclusionWe have identified several overexpressed genes/pathways in thyroid cancer metastasis, making them attractive therapeutic targets. …”
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Systematic surveillance of SARS-CoV-2 reveals dynamics of variant mutagenesis and transmission in a large urban population by Marie-Ming Aynaud, Lauren Caldwell, Khalid N. Al-Zahrani, Seda Barutcu, Kin Chan, Andreea Obersterescu, Abiodun A. Ogunjimi, Min Jin, Kathleen-Rose Zakoor, Shyam Patel, Ron Padilla, Mark C. C. Jen, Princess Mae Veniegas, Nursrin Dewsi, Filiam Yonathan, Lucy Zhang, Amelia Ayson-Fortunato, Analiza Aquino, Paul Krzyzanowski, Jared Simpson, John Bartlett, Ilinca Lungu, Bradly G. Wouters, James M. Rini, Michael Gekas, Susan Poutanen, Laurence Pelletier, Tony Mazzulli, Jeffrey L. Wrana

“…Furthermore, we found that VOC mutant derivatives and putative quasispecies that targeted functionally important residues and were found in future VOCs arose frequently, but were always extinguished. …”
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Phenotypic effects of the dwarfing gene Rht-17 in spring durum wheat under two climatic conditions by A. G. Chernook, P. Yu. Kroupin, L. A. Bespalova, V. V. Panchenko, V. Ya. Kovtunenko, M. S. Bazhenov, L. A. Nazarova, G. I. Karlov, A. Yu. Kroupina, M. G. Divashuk

“…We studied the effect of the gibberellin-insensitive allele Rht-B1p in the B2F2:3 families, developed by crossing Chris Mutant /#517//LD222 in a field experiment in Moscow and Krasnodar. …”
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Black carp RNF115 restricts IRF3/7-mediated antiviral signaling in innate immunity by Yixuan He, Qun Wang, Lili Xiao, Hui Wu, Jun Xiao, Jun Zou, Hao Feng

“…Cysteine 238 and 241 in the RING domain are the main enzyme active sites for RNF115, and the mutant C238/241A lost most of its ability to restrict IRF3/7. …”
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Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer by Yen-Han Tseng, Trieu Thi My Tran, Jinghua Tsai Chang, Yu-Tang Huang, Anh Thuc Nguyen, Ian Yi‑Feng Chang, Yi-Tung Chen, Hao-Wen Hsieh, Yue-Li Juang, Peter Mu-Hsin Chang, Tzu-Yi Huang, Ying-Chih Chang, Yuh-Min Chen, Hsuan Liu, Chi-Ying F. Huang

“…Potential drugs were identified by comparing drug sensitivity differences, represented by the half-maximal inhibitory concentration (IC50), between TP53 mutant and wild-type NSCLC cell lines using database analysis. …”
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Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors by Brianne Dentel, Lidiette Angeles-Perez, Abigail Y. Flores, Katherine Lei, Chongyu Ren, Andrea Pineda Sanchez, Peter T. Tsai

“…We identify seizures only in the Syn1cre conditional mutant (cKO); hyperactivity, learning difficulties, social deficits, and impulsivity in the Syn1cre and Vgatcre cKOs; and social deficits, and fear learning deficits in L7cre cKOs. …”
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