Mendelian randomization and multiomics comprehensively reveal the causal relationship and potential mechanism between atrial fibrillation and gastric cancer by Zhao Sicheng, Zhao Sicheng, Zhang Jingcheng, Zhang Jingcheng, Zhang Shuo, Zhang Shuo, Lou Jiaheng, Lou Jiaheng, Cai Yan, Cai Yan, Bai Xing, Bai Xing, Jiang Tao, Jiang Tao, Jiang Tao, Zhang Guangji, Zhang Guangji, Zhang Guangji

“…Finally, prognosis analysis and gene mutation analysis using TCGA-STAD data indicate an adverse prognosis associated with the key gene set in GC.ConclusionThis study provides new insights into the association between AF and GC and offers novel clues for understanding its impact on the pathogenesis and therapeutic strategies of GC.…”
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KIT D816V Positive Acute Mast Cell Leukemia Associated with Normal Karyotype Acute Myeloid Leukemia by Marta Lopes, Maria dos Anjos Teixeira, Cláudia Casais, Vanessa Mesquita, Patrícia Seabra, Renata Cabral, José Palla-García, Catarina Lau, João Rodrigues, Maria Jara-Acevedo, Inês Freitas, Jose Ramón Vizcaíno, Jorge Coutinho, Luis Escribano, Alberto Orfao, Margarida Lima

“…The BM karyotype was normal, and the KIT D816V mutation was positive in BM cells. The diagnosis of MCL associated with AML was assumed. …”
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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion by Carlotta Giani, Teresa Ramone, Cristina Romei, Raffaele Ciampi, Alessia Tacito, Laura Valerio, Laura Agate, Clara Ugolini, Michele Marinò, Fulvio Basolo, Alessandro Franchi, Simona Borsari, Angela Michelucci, Cesare Selli, Gabriele Materazzi, Filomena Cetani, Rossella Elisei

“…Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B. …”
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Spatial deconvolution from bulk DNA methylation profiles determines intratumoral epigenetic heterogeneity by Binbin Liu, Yumo Xie, Yu Zhang, Guannan Tang, Jinxin Lin, Ze Yuan, Xiaoxia Liu, Xiaolin Wang, Meijin Huang, Yanxin Luo, Huichuan Yu

“…In addition, we showed the significant association of MeHEG-based epigenetic heterogeneity with the genomic heterogeneity in mutation and copy number variation in our in-house and TCGA cohorts. …”
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Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases by Hassan Khojasteh, Mohsen Azarmina, Nazanin Ebrahimiadib, Narsis Daftarian, Hamid Riazi-Esfahani, Houra Naraghi, Hamideh Sabbaghi, Alireza Khodabande, Hooshang Faghihi, Afrooz Moghaddasi, Fatemeh Bazvand, Masoud Reza Manaviat, Hamid Ahmadieh, Narges Hassanpoor, Fatemeh Suri

“…Our study also expands the pathogenic mutation spectrum of the BEST1 gene associated with ARB.…”
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Cancer phylogenetic tree inference at scale from 1000s of single cell genomes by Salehi, Sohrab, Dorri, Fatemeh, Chern, Kevin, Kabeer, Farhia, Rusk, Nicole, Funnell, Tyler, Williams, Marc J., Lai, Daniel, Andronescu, Mirela, Campbell, Kieran R., McPherson, Andrew, Aparicio, Samuel, Roth, Andrew, Shah, Sohrab P., Bouchard-Côté, Alexandre

“…Moreover, we introduce a novel point mutation calling method that incorporates the CN data and the underlying phylogenetic tree to overcome the low per-cell coverage of scWGS. …”
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CT45A1‐mediated MLC2 (MYL9) phosphorylation promotes natural killer cell resistance and outer cell fate in a cell‐in‐cell structure, potentiating the progression of microsatellite... by Hao‐Wei Teng, Hsiang‐Yueh Huang, Chun‐Chi Lin, Yuh‐Ching Twu, Wen‐Hao Yang, Wen‐Chun Lin, Hsin‐Yi Lan, Yen‐Yu Lin, Wei‐Lun Hwang

“…Patients with microsatellite instability‐high (MSI‐H) colorectal cancer (CRC) have high tumor mutation burden and tumor immunogenicity, exhibiting a higher response rate to immunotherapy and better survival. …”
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Evaluation of Elexacafor/Tezacaftor/Ivacaftor therapy after lung transplantation in Cystic Fibrosis: The Dutch National KOALA study by Johanna P. van Gemert, Bart Luijk, Merel E. Hellemons, Klara A. Visser, Carina.M.E. Hansen, Renske van der Meer, C. Tji Gan, Hester van der Vaart, Onno W. Akkerman, Willie N. Steenhuis, Marieke Verkleij, Harry G.M. Heijerman, Erik A.M. Verschuuren

“…Methods: Between Nov 2022-Nov 2023 ETI was offered to PwCF post-LTx with at least one F508del mutation in 3 Dutch LTx centers. PwCF were considered eligible if they had either a BMI ≤ 19 kg/m², chronic rhinosinusitis (CRS), uncontrolled diabetes or gastrointestinal (GI) symptoms. …”
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Engineering a live-attenuated porcine reproductive and respiratory syndrome virus vaccine to prevent RNA recombination by rewiring transcriptional regulatory sequences by Liwei Li, Jinxia Chen, Zhengda Cao, Ziqiang Guo, Jiachen Liu, Yanjun Zhou, Guangzhi Tong, Fei Gao

“…Recombination analysis in vitro and in vivo showed that, compared with the vHuN4-F112 and vZJqz21 co-infection groups, the incidence rates of mutation breakpoints and template-switching recombination in the vA-TRSall and vZJqz21 co-infected groups were effectively reduced. …”
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Recognition mechanism and sequence optimization of organophosphorus pesticides aptamers for better monitoring contaminations in food by Pengfei Chen, Chaoqiong Hu, Xuan Tao, Zheng Zhou, Lijun Wang, Xiao Yang, Zhenming Che, Xianggui Chen, Yukun Huang

“…Based on the docking results, a new aptamer for detection 4 representative OPPs with only 29 bases was designed by reasonable truncation and mutation of the reported aptamer (named S4-29). The interaction between this new aptamer and OPPs were analyzed by molecular docking, microscale thermophoresis, circular dichroism and fluorometric analysis. …”
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Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency by Anna Roppelt, Ulyana Markina, Irina Beloglazova, Irina Beloglazova, Vasily Parshin, Dmitry Kanner, Dmitry Pershin, Mariia Fadeeva, Elena Raykina, Maxim Aleksenko, Alexander Karaulov, Mariana Lysenko, Mariana Lysenko, Daria Fomina, Daria Fomina, Daria Fomina

“…A heterozygous mutation in the PTPN2 gene has recently been described in several patients exhibiting symptoms of immune dysregulation. …”
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Optimasi Weight AHP Menggunakan Genetic Algorithm untuk Rekomendasi Platform Media Sosial Sebagai Sarana Promosi Digital by Risqy Siwi Pradini, Mochammad Anshori, M. Syauqi Haris

“…Each generation will carry out crossover and mutation, so this influences the resulting more diverse individuals and can ultimately help find better solutions. …”
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Identification of Olfactory Receptors Responding to Androstenone and the Key Structure Determinant in Domestic Pig by Peidong Yang, Tingting Luo, Shuqi Yang, Anjing Zhang, Yuan Tang, Li Chen, Jinyong Wang, Yongju Zhao, Zhining Zhong, Xuemin Li, Ziyin Han, Yupei Zhang, Yue Tang, Jideng Ma, Long Jin, Keren Long, Mingzhou Li, Lu Lu

“…Nevertheless, the natural non-synonymous mutation M133V (rs696400829) of pig OR7D4 was proven to significantly impair the respondence to androstenone. …”
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Cerebral microvascular density, blood-brain barrier permeability, and support for neuroinflammation indicate early aging in a Marfan syndrome mouse model by Tala Curry-Koski, Tala Curry-Koski, Liam P. Curtin, Mitra Esfandiarei, Mitra Esfandiarei, Mitra Esfandiarei, Theresa Currier Thomas, Theresa Currier Thomas, Theresa Currier Thomas, Theresa Currier Thomas

“…IntroductionMarfan Syndrome (MFS) is a connective tissue disorder due to mutations in fibrillin-1 (Fbn1), where a Fbn1 missense mutation (Fbn1C1039G/+) can result in systemic increases in the bioavailability and signaling of transforming growth factor-β (TGF-β). …”
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The Use of Insecticide-Treated Curtains for Control of Aedes aegypti and Dengue Virus Transmission in “Fraccionamiento” Style Houses in México by Maria A. Loroño-Pino, Ana Uitz-Mena, Claudia M. Carrillo-Solís, Rocío J. Zapata-Gil, Dora M. Camas-Tec, Lourdes G. Talavera-Aguilar, Rosa C. Cetina-Trejo, Luis F. Flores-Flores, María C. Puc-Tinal, Clara Caamal-Jiménez, Guadalupe Reyes-Solís, Julián E. García-Rejón, Karla Saavedra-Rodriguez, Lars Eisen, Thomas J. Keefe, William C. Black IV, Barry J. Beaty

“…Windows and doors of fraccionamiento homes in urban/suburban areas, where Ae. aegypti pyrethroid resistance associated with the Ile1016 knock down resistance (kdr) mutation in the voltage gated sodium channel gene was high, and in rural areas, where kdr resistance was low, were fitted with either insecticide-treated curtains (ITCs) or non-treated curtains (NTCs). …”
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FAM134B-mediated endoplasmic reticulum autophagy protects against cisplatin-induced spiral ganglion neuron damage by Fan Wang, Yue Xu, Yajie Wang, Qian Liu, Yanan Li, Weiwei Zhang, Huiming Nong, Junhong Zhang, Hao Zhao, Huaqian Yang, Lingchuan Guo, Jianfeng Li, Jianfeng Li, Hong Li, Qianqian Yang

“…FAM134B, the first detected endoplasmic reticulum autophagy (ER-phagy) receptor, plays an important part in the dynamic remodelling of the ER, the mutation of which affects sensory and autonomic neurons. …”
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Shared mechanisms of enhanced plasmid maintenance and antibiotic tolerance mediated by the VapBC toxin:antitoxin system by Sarah Hollingshead, Gareth McVicker, Maria R. Nielsen, YuGeng Zhang, Giulia Pilla, Rebekah A. Jones, Jonathan C. Thomas, Sarah E. H. Johansen, Rachel M. Exley, Ditlev E. Brodersen, Christoph M. Tang

“…We demonstrate that the tolerance mutations also enhance plasmid stabilization by the same mechanism as VapBL12. …”
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Cloning and sequencing of VP19-encoding gene of white spot syndrome virus from Situbondo’s isolate by Sahrul Alim, Dinamella Wahjuningrum, Muhamad Ali

“…Furthermore, the vaccine usage is less effective since the local WSSV suspected to have some mutation and have differences in sequence from the one that used for recombinant vaccine production so far. …”
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Analisis Kepuasan Pengguna Aplikasi Sidawai Menggunakan End User Computing Statisfaction (EUCS) DAn Importance Performance Analysis (IPA) by Kiki Haerani, Khairul Imtihan, Wafiah Murniati

“…Abstract   The Employee Data Collection System Application (SIDAWAI) is an application designed as a staffing data solution such as employee biodata, position mutation history, rank history, leave history and so on. …”
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Dealing With the Complexity of Effective Population Size in Conservation Practice by Ancuta Fedorca, Joachim Mergeay, Adejoke O. Akinyele, Tamer Albayrak, Iris Biebach, Alice Brambilla, Pamela A. Burger, Elena Buzan, Ino Curik, Roberta Gargiulo, José A. Godoy, Santiago C. González‐Martínez, Christine Grossen, Myriam Heuertz, Sean Hoban, Jo Howard‐McCombe, Maria Kachamakova, Peter Klinga, Viktoria Köppä, Elenora Neugebauer, Ivan Paz‐Vinas, Peter B. Pearman, Laia Pérez‐Sorribes, Baruch Rinkevich, Isa‐Rita M. Russo, Adélaïde Theraroz, Nia E. Thomas, Marjana Westergren, Sven Winter, Linda Laikre, Alexander Kopatz

“…Molecular methods to estimate Ne rely on various assumptions, including no immigration, panmixia, random sampling, absence of spatial genetic structure, and/or mutation‐drift equilibrium. Species are, however, often characterized by fragmented populations under changing environmental conditions and anthropogenic pressure. …”
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