Sotorasib resistance triggers epithelial-mesenchymal transition and activates AKT and P38-mediated signaling by Raquel Arantes Megid, Guilherme Gomes Ribeiro, Izabela Natalia Faria Gomes, Ana Carolina Laus, Letícia Ferro Leal, Letícia Ferro Leal, Luciane Sussuchi da Silva, Abu-Bakr Adetayo Ariwoola, Josiane Mourão Dias, Rui Manuel Reis, Rui Manuel Reis, Renato Jose da Silva-Oliveira, Renato Jose da Silva-Oliveira

“…BackgroundThe molecular non-genetic changes of resistance to sotorasib are currently uncertain. …”
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SLC6A4 5HTTLPR Polymorphism Affects Insulin Secretion in Patients with Polycystic Ovary Syndrome by Barbara Šenk, Katja Goričar, Nika Aleksandra Kravos, Mojca Jensterle Sever, Andrej Janež, Vita Dolžan

“…To investigate in a pilot study of genetic polymorphisms in serotonin system influencing basal- and glucose-stimulated insulin secretion in women with polycystic ovary syndrome (PCOS). …”
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Self-beneficial transactional social dynamics for cooperation in Shwachman-Diamond syndrome: a mixed-subject analysis using computational pragmatics by Arthur Trognon, Arthur Trognon, Arthur Trognon, Natacha Stortini, Natacha Stortini, Coralie Duman, Coralie Duman, Nami Koïdé, Ewa Skupinska, Ewa Skupinska, Hamza Altakroury, Alizée Poli, Alizée Poli, Loann Mahdar-Recorbet, Loann Mahdar-Recorbet, Blandine Beaupain, Jean Donadieu, Michel Musiol, Michel Musiol, Michel Musiol

“…BackgroundShwachman-Diamond Syndrome (SDS) is a rare genetic disorder with documented cognitive and behavioral challenges. …”
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The Protective Role of HLA-DRB113 in Autoimmune Diseases by Andreia Bettencourt, Cláudia Carvalho, Bárbara Leal, Sandra Brás, Dina Lopes, Ana Martins da Silva, Ernestina Santos, Tiago Torres, Isabel Almeida, Fátima Farinha, Paulo Barbosa, António Marinho, Manuela Selores, João Correia, Carlos Vasconcelos, Paulo P. Costa, Berta Martins da Silva

“…Autoimmune diseases (AIDs) are characterized by a multifactorial aetiology and a complex genetic background, with the MHC region playing a major role. …”
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Clinical phenotypes and associated factors in knee osteoarthritis in an African black population by Charles Sougué, Malick Diallo, Yannick Laurent Tchenadoyo Bayala, Ismaël Ayouba Tinni, Fulgence Kaboré, Wendlassida Joelle Stéphanie Zabsonré Tiendrebeogo, Patrick Wendpouiré Hamed Dakouré, Dieu-Donné Ouedraogo

“…The study identified five clinical phenotypes through clustering: 152 patients (47.3 ​%) exhibited the “osteoporotic” phenotype, 113 patients (35.2 ​%) exhibited the “metabolic” phenotype, 17 patients (5.3 ​%) exhibited the “genetic” phenotype, 24 patients (7.4 ​%) exhibited the “biomechanical” phenotype, and 15 patients (4.6 ​%) exhibited the “post-traumatic” phenotype. …”
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Arrested Puberty in an Adolescent Male with Anorexia Nervosa Successfully Resumed with Multidisciplinary Care by Diana Simão Raimundo, Carolina Figueiredo, Ana Raposo, Bernardo Dias Pereira

“…The normal development of puberty depends on the specific pulsatility of gonadorelin, which is finely regulated by genetic and environmental factors. In the published literature, eating disorders figure as a cause of pubertal delay/arrest in females but are rarely considered in males with disordered puberty. …”
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Integrated Planning for Shared Electric Vehicle System Considering Carbon Emission Reduction by Xiaohui Sun, Yumei Mi, Askar Ahtam, Zhi Zuo

“…By applying these models to the Chicago Sketch network and using a genetic algorithm to solve the models, it is concluded that the optimal outlet location solution considering carbon emission reduction will increase the outlet construction cost and user travel time cost. …”
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Copper and iron as unique trace elements linked to fibromyalgia risk by Wenxing Zeng, Minhua Hu, Luyao Ma, Feng Huang, Ziwei Jiang

“…This study employed Mendelian randomization (MR) to assess potential causal relationships between 15 major trace elements and the risk of FM, focusing on the specific roles of elements that show significant associations. Genetic instrumental variables (single nucleotide polymorphisms, SNPs), related to these trace elements and FM were extracted from genome-wide association studies (GWAS). …”
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Infiltrating peripheral monocyte TREM-1 mediates dopaminergic neuron injury in substantia nigra of Parkinson’s disease model mice by Wei Song, Zi-ming Zhou, Le-le Zhang, Hai-feng Shu, Jin-ru Xia, Xia Qin, Rong Hua, Yong-mei Zhang

“…TREM-1 inhibition, both genetically and pharmacologically, reduced monocyte infiltration, alleviated neuroinflammation, and preserved dopaminergic neurons, resulting in improved motor function. …”
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Characteristic external genitalia in male neonates with 5α-reductase deficiency by Takeshi Munenaga, Yosuke Ichihashi, Satsuki Nakano, Hironori Shibata, Takeshi Sato, Hiroshi Asanuma, Keiko Homma, Tomonobu Hasegawa, Tomohiro Ishii

“…This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. …”
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Field-based evidence for the prevalence of soil antibiotic resistomes under long-term antibiotic-free fertilization by Yuhao Fu, Fang Hu, Fang Wang, Min Xu, Zhongjun Jia, Wulf Amelung, Zhi Mei, Xiaozeng Han, Marko Virta, Xin Jiang, James M. Tiedje

“…Long-term fertilization slightly impacts the diversity of antibiotic resistomes, with 85.5 % of total ARGs and mobile genetic elements (MGEs) being common across all treatment types, while significantly increasing their abundances from 0.68 to a maximum of 0.90 copies/16S rRNA. …”
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Development of RT-PCR Assays for Simple Detection and Identification of Sabin Virus Contaminants in the Novel Oral Poliovirus Vaccines by Olga Singh, Hasmik Manukyan, Erman Tritama, Shwu-Maan Lee, Jerry P. Weir, Majid Laassri

“…A novel OPV2 vaccine (nOPV2) with enhanced genetic stability was developed recently; type 1 and type 3 nOPV strains were engineered using the nOPV2 genome as a backbone by replacing the capsid precursor polyprotein (P1) with that of Sabin strains type 1 and type 3, respectively. …”
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Assessment of typing methods, virulence genes profile and antimicrobial susceptibility for clinical isolates of Proteus mirabilis by Lamiaa A. Salama, Hazem Hamed Saleh, Shaymaa H. Abdel-Rhman, Rasha Barwa, Ramadan Hassan

“…Detection of several virulence genes by PCR; zapA and ureC were harbored by all isolates, followed by rsbA (95%), ureA and flaA (93%), hpmA (91.7%) and mrpA (73.3%). Determination of genetic diversity between isolates was performed by different methods (RAPD, ISSR, ERIC, BOX-AIR and REP-PCR) by using several parameters as typeability and discriminatory power indicating that ERIC-PCR was the best method followed by REP-PCR 1R. …”
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Influence of Rapid Urbanization on Thyroid Autoimmune Disease in China by Yingchao Chen, Bing Han, Jie Yu, Yi Chen, Jing Cheng, Chunfang Zhu, Fangzhen Xia, Ningjian Wang, Yingli Lu

“…Generalized multifactor dimensionality reduction (GMDR) was used to screen the best interaction between genetic factors and environment factors. Results. …”
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Genome-Wide Association Study of Orthostatic Hypotension and Supine-Standing Blood Pressure Changes in Two Korean Populations by Kyung-Won Hong, Sung Soo Kim, Yeonjung Kim

“…To understand the underlying genetic factors for OH traits (OH, dtSBP, and dtDBP), genome-wide association studies (GWASs) using 333,651 single nucleotide polymorphisms (SNPs) were conducted separately for two population-based cohorts, Ansung (n = 3,173) and Ansan (n = 3,255). …”
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An optimized deep-forest algorithm using a modified differential evolution optimization algorithm: A case of host-pathogen protein-protein interaction prediction by Jerry Emmanuel, Itunuoluwa Isewon, Jelili Oyelade

“…The results were compared with standard optimization methods such as traditional Bayesian optimization, genetic algorithms, evolutionary strategies, and other machine learning models. …”
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In Vitro Susceptibility and Florfenicol Resistance in Citrobacter Isolates and Whole-Genome Analysis of Multidrug-Resistant Citrobacter freundii by Wangxiao Zhou, Qianqian Chen, Changrui Qian, Kai Shen, Xinyi Zhu, Danying Zhou, Wei Lu, Zhewei Sun, Hongmao Liu, Kewei Li, Teng Xu, Qiyu Bao, Junwan Lu

“…Furthermore, a range of antimicrobial and metal resistance genes associated with mobile genetic elements could be identified in pR47-54 and the other plasmid pR47-309 of C. freundii R47. …”
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Susceptibility of different mice species to chemical induction of colorectal cancer by 1,2-dimethylhydrazine by Nourhan M. Abdelmaksoud, Ahmed I. Abulsoud, Tamer M. Abdelghany, Shereen Saeid Elshaer, Ahmed Samaha, Nadine W. Maurice, Sherine Maher Rizk, Mahmoud A. Senousy

“…Chemically induced CRC represents a cornerstone in animal model development; however, due to the presence of different animal species with different genetic backgrounds, it becomes mandatory to study the susceptibility of different mice species to CRC induction by different chemical entities such as 1,2-dimethylhydrazine (DMH). …”
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Prevalence of antibiotic resistance genes in mining-impacted farmland environments by Hai-Yan Zou, Fang-Zhou Gao, Liang-Ying He, Min Zhang, You-Sheng Liu, Jun Qi, Guang-Guo Ying

“…Here we investigated contents of heavy metals, ARG abundances, mobile genetic elements (MGEs), and microbial community in mining-affected farmland soils and vegetables from Shangba village (SB), in comparison to a nearby reference village Taiping (TP). …”
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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A by Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

“…The newly discovered mutation site c.4313dup(p.Trp1439ValfsTer32) in exon 25 of SCN5A may be the molecular genetic basis of the family with Brugada syndrome.…”
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