Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract by Shaohua Zhang, Yang Sun, Yinghong Ji, Li Ning, Binghe Xiao, Maierdanjiang Ainiwaer, Houyi Liu, Yingying Hong

“…Despite classified as VUS (American College of Medical Genetics and Genomics criteria: PM1, PP4), the pathogenicity in this Cog4 variant cannot be ruled out and warrants further investigation.…”
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The role of long non-coding RNA LINC00839 in oral squamous cell carcinoma based on bioinformatics and experimental research by Ashkan Kalantary-Charvadeh, Saman Morovat, Somayeh Aslani, Nasrin Ziamajidi, Amirnader Emami Razavi, Roghayeh Abbasalipourkabir

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Comparison of In Vitro Biotransformation of Olive Polyphenols Between Healthy Young and Elderly by Stef Lauwers, Anne-Sophie Weyns, Annelies Breynaert, Tim Van Rillaer, Valerie Van Huynegem, Erik Fransen, Wout Bittremieux, Sarah Lebeer, Emmy Tuenter, Nina Hermans

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Spatiotemporal transcriptome and scRNA sequencing analysis reveals that IKFZ1‐mediated microglia underlies a therapy for intracerebral hemorrhage by Wenqiao Qiu, Jie Tian, Gao Mou, Lili Guo, Tao Xu, Wei Liu, Jianwei Zhu, Yi Zhang, Xiaolin Hou, Yao Xie, Huan Xiong, Xinda Li, Yangyang Wang, Mingjun Gao, Anguo Wu, Longyi Chen, Jie Mei, Lulin Huang, Ruxiang Xu

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Paraoxonase-1 Inhibits Oxidized Low-Density Lipoprotein-Induced Metabolic Alterations and Apoptosis in Endothelial Cells: A Nondirected Metabolomic Study by Anabel García-Heredia, Judit Marsillach, Anna Rull, Iris Triguero, Isabel Fort, Bharti Mackness, Michael Mackness, Diana M. Shih, Jorge Joven, Jordi Camps

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Oyster Mushroom (Pleurotus ostreatus) Ethanolic Extract Inhibits Pparg Expression While Maintaining the Methylation of the Pparg Promoter During 3T3-L1 Adipocyte Differentiation by Ariyanto EF, Farahana AK, Sudirman GSJ, Widiarsih E, Qomarilla N, Rahayu NS, Wikayani TP, Heryaman H, Wira DW, Triatin RD, Bashari MH, Pamela Y, Pratiwi YS, Ghozali M

“…Eko Fuji Ariyanto,1,2 Anastasya Kania Farahana,3 Gabriella Sachiko Jannesha Sudirman,3 Erlina Widiarsih,4 Nurul Qomarilla,5 Nurul Setia Rahayu,4 Tenny Putri Wikayani,5 Henhen Heryaman,1 Dwi Wahyudha Wira,1 Rima Destya Triatin,1,2 Muhammad Hasan Bashari,1 Yunisa Pamela,1 Yuni Susanti Pratiwi,1 Mohammad Ghozali1 1Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran, Sumedang, West Java, Indonesia; 2Research Center for Medical Genetics, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, Indonesia; 3Undergraduate Program of Medical Doctor, Faculty of Medicine, Universitas Padjadjaran, Sumedang, West Java, Indonesia; 4Molecular Genetics Laboratory, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, Indonesia; 5Cell Culture Laboratory, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, IndonesiaCorrespondence: Eko Fuji Ariyanto, Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran, Sumedang, West Java, Indonesia, Tel +6281316099791, Email fuji@unpad.ac.idPurpose: This study aims to provide new insights into the potential of oyster mushroom (Pleurotus ostreatus) ethanolic extract in preventing obesity through the inhibition of Pparg expression and modulation of methylation level on Pparg promoter during 3T3-L1 adipocyte differentiation.Methods: This in vitro quantitative experimental study was conducted by treating the 3T3-L1 cell line differentiated using 0.5 mM methyl-isobutyl-xanthine, 1 μM dexamethasone, and 10 μg/mL insulin-containing medium with oyster mushroom ethanolic extract. …”
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NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model by Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, Chika Watanabe, Eriko F. Jimbo, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Kei Murayama, Akira Ohtake, Ryozo Nagai, Hitoshi Osaka, Kenichi Aizawa

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Liquid crystal template-assisted electrodeposition of nanoporous nickel microspheres: A sensitive electrochemical sensing platform for electrocatalytic oxidation and quantitative d... by R. Dehdari Vais, M. Negahdary, S.R. Rasouli Nasrabadi, A. Rahi, S.A. Dastgheib, H. Heli

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Microsatellite instability and somatic gene variant profile in solid organ tumors by Ibrahim Halil Erdogdu, Seda Orenay-Boyacioglu, Olcay Boyacioglu, Nesibe Kahraman-Cetin, Habibe Guler, Merve Turan, Ibrahim Meteoglu

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Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies by Federica Tamburrino, Laura Mazzanti, Dino Gibertoni, Concetta Schiavariello, Annamaria Perri, Eleonora Orlandini, Cesare Rossi, Marco Tartaglia, Marcello Lanari, Emanuela Scarano

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Diagnosis of lung cancer using salivary miRNAs expression and clinical characteristics by Negar Alizadeh, Hoda Zahedi, Maryam Koopaie, Mahnaz Fatahzadeh, Reza Mousavi, Sajad Kolahdooz

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Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership by Tess Harris, Albert Ong, Paul J D Winyard, Richard N Sandford, Maryrose Tarpey, Hannah R Bridges, Wendy D Brown, Natasha L O’Brien, Ann C Daly, Bharat K Jindal, Gillian S Mundy, Albert J Power, John Sayer, Roslyn J Simms, Patricia D Wilson

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Potentially actionable molecular alterations in particular related to poor oncologic outcomes in salivary gland carcinomas by Julia Pikul, Marcin M. Machnicki, Anna Rzepakowska, Natalia Winiarska, Agnieszka Chudy, Albert Moskowicz, Kacper Król, Łukasz Fus, Grażyna Kostrzewa, Tomasz Stokłosa

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FBXO31-mediated ubiquitination of OGT maintains O-GlcNAcylation homeostasis to restrain endometrial malignancy by Na Zhang, Yang Meng, Song Mao, Huiling Ni, Canhua Huang, Licong Shen, Kun Fu, Lu Lv, Chunhong Yu, Piyanat Meekrathok, Chunmei Kuang, Fang Chen, Yu Zhang, Kai Yuan

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Delta large-channel endoscopy versus unilateral biportal endoscopy decompressive laminectomy for lumbar spinal stenosis: a prospective randomized controlled trial by Rushuo Wei, Weiqiang Liu, Mingdong Yu, Yushan Zhu, Ruzhan Yao, Bingwu Wang, Jesse Li-Ling

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Loss of SMAD1 in acute myeloid leukemia with KMT2A::AFF1 and KMT2A::MLLT3 fusion genes by Lisa Dietsche, Kristin Stirm, Veronika Lysenko, Corina Schneidawind, Alexandar Tzankov, Anne Müller, Alexandre P. A. Theocharides

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Therapeutic Innovations in Nanomedicine: Exploring the Potential of Magnetotactic Bacteria and Bacterial Magnetosomes by Yadav VK, Pramanik S, Alghamdi S, Atwah B, Qusty NF, Babalghith AO, Solanki VS, Agarwal N, Gupta N, Niazi P, Patel A, Choudhary N, Zairov R

“…Virendra Kumar Yadav,1,* Sheersha Pramanik,2,* Saad Alghamdi,3 Banan Atwah,3 Naeem F Qusty,3 Ahmad O Babalghith,4 Vijendra Singh Solanki,5 Neha Agarwal,6 Nishant Gupta,7 Parwiz Niazi,8 Ashish Patel,9 Nisha Choudhary,9 Rustem Zairov10,11 1Marwadi University Research Center, Department of Microbiology, Faculty of Sciences, Marwadi University, Rajkot, Gujarat, 360003, India; 2Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai, Tamil Nadu, 600036, India; 3Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Umm Al-Qura University, Makkah, Saudi Arabia; 4Medical Genetics Department, College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; 5Department of Chemistry, Institute of Science and Research (ISR), IPS Academy, Indore, India; 6Department of Chemistry, Navyug Kanya Mahavidyalaya, University of Lucknow, Lucknow, Uttar Pradesh, India; 7Department of Engineering and Medical Devices, River Engineering Pvt Ltd, Ecotech-III, Greater Noida, U.p., India; 8Department of Biology, Faculty of Education, Kandahar University, Kandahar, Afghanistan; 9Department of Lifesciences, Hemchandracharya North Gujarat University, Patan, Gujarat, 384265, India; 10Arbuzov Institute of Organic and Physical Chemistry, FRC Kazan Scientific Center RAS, Kazan, Russian Federation; 11Aleksander Butlerov Institute of Chemistry, Kazan Federal University, Kazan, Russian Federation*These authors contributed equally to this workCorrespondence: Virendra Kumar Yadav; Nisha Choudhary;, Email yadava94@gmail.com; nishanaseer03@gmail.comAbstract: Nanotechnology has emerged as a revolutionary domain with diverse applications in medicine, and one of the noteworthy developments is the exploration of bacterial magnetosomes acquired from magnetotactic bacteria (MTB) for therapeutic purposes. …”
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Glaucoma laser treatments: modern approaches and practice guidelines by M.H. Rabadanova, Zh.G. Oganezova, E.A. Egorov, D.V. Katz, V.V. Novoderezhkin

“…Filatov, Moscow, Russian Federation </p> <p> ³Research Center for Medical Genetics, Moscow, Russian Federation </p> <p> Glaucoma represents a significant medical, economical, and social burden for the healthcare system both in Russia and worldwide. …”
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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

“…Regarding the pathogenicity of CNVs, 91 (57.96%, 91/157) were identified as pathogenic, 28 (17.83%, 28/157) as variants of uncertain clinical significance (VOUS), and 38 (24.20%, 38/157) as benign according to the American College of Medical Genetics and Genomics (ACMG).Using a specific sign-scoring scale, the proportion of pathogenic CNVs in children graded 1 point or higher (64%, 58/91) was significantly higher than that of non-pathogenic CNVs (43%, 29/66) (P < 0.05). …”
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Electrophysiological and Structural Changes in Chinese Patients with LHON by Min Wang, Hong Guo, Shiying Li, Gang Wang, Yanling Long, Xiaohong Meng, Bo Liu, Yong Liu, Anthony G. Robson, Zheng Qin Yin

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