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  1. 11601

    Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids by Xiao Han, Yuanlin He, Yuanhao Wang, Wenzhu Hu, Chu Chu, Lei Huang, Yuan Hong, Lu Han, Xu Zhang, Yao Gao, Yuan Lin, Hongxia Ma, Hongbing Shen, Xiaoyan Ke, Yan Liu, Zhibin Hu

    Published 2025-01-01
    “…Abstract Autism spectrum disorder (ASD), which is caused by heterogeneous genetic and environmental factors, is characterized by diverse clinical phenotypes linked to distinct pathological mechanisms. …”
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  2. 11602

    The Intersection of Epigenetics and Senolytics in Mechanisms of Aging and Therapeutic Approaches by Daiana Burdusel, Thorsten R. Doeppner, Roxana Surugiu, Dirk M. Hermann, Denissa Greta Olaru, Aurel Popa-Wagner

    Published 2024-12-01
    “…The biological process of aging is influenced by a complex interplay of genetic, environmental, and epigenetic factors. Recent advancements in the fields of epigenetics and senolytics offer promising avenues for understanding and addressing age-related diseases. …”
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  3. 11603

    An HLA-Transgenic Mouse Model of Type 1 Diabetes That Incorporates the Reduced but Not Abolished Thymic Insulin Expression Seen in Patients by Jeffrey Babad, Riyasat Ali, Jennifer Schloss, Teresa P. DiLorenzo

    Published 2016-01-01
    “…Type 1 diabetes (T1D) is an autoimmune disease characterized by T cell-mediated destruction of the pancreatic islet beta cells. Multiple genetic loci contribute to disease susceptibility in humans, with the most responsible locus being the major histocompatibility complex (MHC). …”
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  4. 11604

    Analysis of Polygala tenuifolia Transcriptome and Description of Secondary Metabolite Biosynthetic Pathways by Illumina Sequencing by Hongling Tian, Xiaoshuang Xu, Fusheng Zhang, Yaoqin Wang, Shuhong Guo, Xuemei Qin, Guanhua Du

    Published 2015-01-01
    “…With this transcriptome sequencing, future genetic and genomics studies related to the molecular mechanisms associated with the chemical composition of P. tenuifolia may be improved. …”
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  5. 11605

    Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases by A. Chin, S. Balasubramanyam, C. M. Davis

    Published 2021-01-01
    “…We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. …”
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  6. 11606

    Microbial Biofortification of Grain Crops: Current State and Prospects by Daria E. Kolpakova, Yuliya R. Serazetdinova, Natalya V. Fotina, Alexandra V. Zaushintsena, Lyudmila K. Asyakina, Anna I. Loseva

    Published 2024-07-01
    “…Biofortification offers a sustainable solution as it combines methods of cross-breeding, genetic engineering, agriculture, and microbiology. …”
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  7. 11607

    Plastid-localized ZmENR1/ZmHAD1 complex ensures maize pollen and anther development through regulating lipid and ROS metabolism by Shaowei Zhang, Xueli An, Yilin Jiang, Quancan Hou, Bin Ma, Qingping Jiang, Kai Zhang, Lina Zhao, Xiangyuan Wan

    Published 2024-12-01
    “…In this study, we identify a maize male-sterile mutant, enr1, with early tapetal degradation, defective anther cuticle, and pollen exine. Using genetic mapping, we clone a key GMS gene, ZmENR1, which encodes a plastid-localized enoyl-acyl carrier protein (ACP) reductase. …”
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  8. 11608

    Hepatitis E virus infection among blood donors in Zhengzhou by ZHAO Hongna, WEI Yueguang, YAN Lumin, TU Tiantian, WANG Shumin, WEI Yihui, WANG Yifang, ZHAO Lei, CHEN Mingjun

    Published 2025-01-01
    “…[Results] Among 21 311 samples, 3(0.14‰) were reactive for HEV RNA, all of whom were male. Genetic sequencing results revealed that one strong positive sample was genotype 4, while sequencing failed for the other two due to low viral load. …”
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  9. 11609

    Inhibition of Kv1.3 channel restrains macrophage M2 polarization and ameliorates renal fibrosis via regulating STAT6 phosphorylation by Yanshan Chen, Yuanxing Zhi, Hailin Zhong, Liang Ma, Xinpei Gu, Yijing Cai, Jingjing Huang, Xin Yi, Xiaoyan Wu, Ken Kin Lam Yung, Pingzheng Zhou

    Published 2025-03-01
    “…Our findings demonstrated that genetic or pharmacological inhibition of Kv1.3 significantly suppressed the expression of M2 markers and STAT6 phosphorylation. …”
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  10. 11610

    Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population by Junli Song, Jie Hou, Qiang Zhao, Xuezhi Liu, Qian Guo, Donghong Yin, Yan Song, Xiaoxia Li, Shuyun Wang, Xinchun Wang, Jinju Duan

    Published 2020-01-01
    “…MTHFR gene, smoking, family history of hypertension, Hcy, and triglycerides could be important genetic and high-risk factors of the development of severe hypertension in northern Chinese. …”
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  11. 11611

    Biotechnology breakthroughs: Revolutionizing oral cancer treatment by Safin Hussein, Karzan Qurbani, Haider Hamzah, Seenaa Ali, Sirwan Khalid Ahmed

    Published 2024-06-01
    “…Gene therapy holds promise in correcting genetic abnormalities that contribute to tumor growth or enhancing the immune system's ability to eradicate cancer cells. …”
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  12. 11612

    Unveiling the Mechanism of Deprotonation and Proton Transfer of DNA Polymerase Catalysis via Single‐Molecule Conductance by Lihua Zhao, Yang Xu, Zhiheng Yang, Wenzhe Liu, Shichao Zhong, Jingwei Bai, Xuefeng Guo

    Published 2025-01-01
    “…Abstract DNA polymerases (Pols) play important roles in the transmission of genetic information. Although the function and (de)regulation of Pols are linked to many human diseases, the key mechanism of 3′‐OH deprotonation and the PPi formation are not totally clear. …”
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  13. 11613

    Proximate Composition, Amino Acid Profile, and Mineral Content of Four Sheep Meats Reared Extensively in Morocco: A Comparative Study by Kamal Belhaj, Farid Mansouri, Abdessamad Ben moumen, Marianne Sindic, Marie-Laure Fauconnier, Mohamed Boukharta, Hana Serghini Caid, Ahmed Elamrani

    Published 2021-01-01
    “…The majority of the evaluated parameters were influenced by genetic and geographical factors (p<0.05). The longissimus lumborum muscle had higher a∗ value in Timahdite and Ouled-Djellal breeds. …”
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  14. 11614

    Robust H-Infinity Filter and PSO-SVM Based Monitoring of Power Quality Disturbances System by Prakash K. Ray, Harish Kumar Sahoo, Asit Mohanty, Javed Khan Bhutto, Abdulwasa Bakr Barnawi, Abdulmjeed Ali Alshaya

    Published 2024-01-01
    “…The validity of the classification analysis is reinforced by the inclusion of experimental data gathered from a prototype wind energy system and photovoltaic (PV) system setup. Again, Genetic algorithm (GA) is used for extracting optimal features and Particle swarm optimization (PSO) is applied for optimising the heuristic parameters of the SVM in order to improvise the classification accuracy under normal, noisy as well as increased penetration of wind and photovoltaic (PV) systems.…”
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  15. 11615

    QSAR STUDY OF 2-SUBSTITUTED PHENYL-2-OXO-, 2-HYDROXYL- AND 2-ACYLLOXYETHYLSULFONAMIDES AS FUNGICIDES by Yusuf Isyaku, Adamu Uzairu, Sani Uba

    Published 2019-06-01
    “…The model was developed using Genetic Function Algorithm (GFA). Out of the four models developed, model 1 was selected as the optimum model with good statistical parameters; R2 = 0.954, R2adj =0.941, cross validation R2/ Q2cv = 0.888 and R2pred = 0.839. …”
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  16. 11616

    Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings by Michele Minerva, Lorenzo Perilli, Samanta Carbone, Margherita Maria Rossi, Federica Lotti, Luisa Lonoce, Maria Rosaria Curcio, Salvatore Grosso

    Published 2025-01-01
    “…Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. …”
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  17. 11617
  18. 11618

    Genome-Wide Association Study of Medication Adherence in Chronic Diseases in the Korean Population by Incheol Seo, Seong-Il Suh, Min-Ho Suh, Won-Ki Baek

    Published 2014-09-01
    “…This study was conducted a genome-wide association study to identify the genetic basis of medication adherence. A total of 235 medication non-adherents and 1,067 medication adherents with hypertension or diabetes were used from the Korean Association Resource project data according to the self-reported treatment status of each chronic disease, respectively. …”
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  19. 11619

    Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies by Maria Azam, Beata Jastrzebska

    Published 2025-01-01
    “…Advancing our understanding of the interactions between photoreceptor cell death mechanisms and the specific genetic mutations driving RP is critical to accelerate the discovery and development of therapeutic strategies for this currently incurable disease.…”
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  20. 11620

    Calcitonin and Bone Physiology: In Vitro, In Vivo, and Clinical Investigations by Jingbo Xie, Jian Guo, Zaeema Kanwal, Mingzheng Wu, Xiangyang Lv, Nihal Abdalla Ibrahim, Ping Li, Manal Ali Buabeid, El-Shaimaa A. Arafa, Qingshan Sun

    Published 2020-01-01
    “…The recent research studies carried out on genetically modified mice showed the inhibition of osteoclast activity by amylin, while astonishingly calcitonin plays its role by suppressing osteoblast and bone turnover. …”
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