Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

“…Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism. …”
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The Novel Methods for Analysis of Exosomes Released from Endothelial Cells and Endothelial Progenitor Cells by Jinju Wang, Runmin Guo, Yi Yang, Bradley Jacobs, Suhong Chen, Ifeanyi Iwuchukwu, Kenneth J. Gaines, Yanfang Chen, Richard Simman, Guiyuan Lv, Keng Wu, Ji C. Bihl

“…Here we described novel methods for purification and phenotyping of EXs released from endothelial cells (ECs) and endothelial progenitor cells (EPCs) by combining microbeads and fluorescence quantum dots (Q-dots®) techniques. …”
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PD‐1+CD8+ T Cell‐Mediated Hepatocyte Pyroptosis Promotes Progression of Murine Autoimmune Liver Disease by Jie Long, Si‐Yu Yang, Zhen‐Hua Bian, Hao‐Xian Zhu, Min Ma, Xiao‐Qing Wang, Liang Li, Weici Zhang, Ying Han, M. Eric Gershwin, Zhe‐Xiong Lian, Zhi‐Bin Zhao

“…A spontaneous severe murine model of autoimmune liver disease has been previously established in dnTGFβRII Aire−/− mice, exhibiting disease phenotypes that resemble both human primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH). …”
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Identification of QTLs for resistance to leaf and stem rusts in bread wheat (Triticum aestivum L.) using a mapping population of ‘Pamyati Azieva × Paragon’ by Y. Genievskaya, Y. Fedorenko, A. Sarbayev, A. Amalova, S. Abugalieva, S. Griffiths, Y. Turuspekov

“…To accomplish this task, a population of recombinant inbred lines (RILs) of ‘Pamyati Azieva × Paragon’ was grown in the northern and southeastern parts of Kazakhstan, phenotyped for LR/SR severities, and analyzed for key yield components. …”
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The effects of SN Ps in the regions of positioning RNA polymerase II on the TBP/promoter affinity in the genes of human circadian clock by O. A. Podkolodnaya, D. A. Rasskazov, N. L. Podkolodnyy, N. N. Podkolodnaya, V. V. Suslov, L. K. Savinkova, P. M. Ponomarenko, M. P. Ponomarenko

“…Genetic variability in the genes of circadian clock is manifested as the phenotypic variability of physiological functions and behavior as well as disorders of the function of not only the clock but also other systems, leading to the development of a pathologies. …”
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Laccase/caffeic acid-catalyzed crosslinking coupled with galactomannan alters the conformational structure of ovalbumin and alleviates Th2-mediated allergic asthma by Ishfaq Ahmed, Suidong Ouyang, Shengquan Wu, Haochang Song, Miaoyuan Zhang, Renxing Luo, Peishan Lu, Jiaqi Deng, Tingting Zheng, Yanyan Wang, Xinguang Liu, Gonghua Huang

“…Stimulation of bone marrow-derived dendritic cells with Lac-Man/OVA suppressed the expression of phenotypic maturation markers (CD80 and CD86) and MHC class Ⅱ molecules, and suppressed the expression levels of proinfl ammatory cytokines. …”
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Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 Diabetes by Ying Yang, Tai-Cheng Zhou, Yong-Ying Liu, Xiao Li, Wen-Xue Wang, David M. Irwin, Ya-Ping Zhang

“…Here, we aimed to investigate the mutations and to characterize the phenotypes of a Han Chinese family with early-onset maternally inherited type 2 diabetes. …”
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Changes in the Fluorescence Tracking of NaV1.6 Protein Expression in a BTBR T+Itpr3tf/J Autistic Mouse Model by Musaad A. Alshammari, Mohammad R. Khan, Fawaz Alasmari, Abdulaziz O. Alshehri, Rizwan Ali, Mohamed Boudjelal, Khalid A. Alhosaini, Abdurahman A. Niazy, Tahani K. Alshammari

“…Our results provide potential evidence for previously undescribed mechanisms that may play a role in the pathogenesis of autistic-like phenotypes in BTBR mice.…”
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Diversity and antimicrobial resistance profiles of Mycobacterium avium complex clinical isolates in Thailand based on whole genome comparative analysis by Vorthon Sawaswong, Kanphai Wongjarit, Suthidee Petsong, Yonita Yuliani, Ubonwan Somsukpiroh, Kiatichai Faksri, Taya Forde, Sunchai Payungporn, Suwatchareeporn Rotcheewaphan

“…Most MAC isolates were resistant to linezolid and moxifloxacin based on phenotypic antimicrobial susceptibility testing. Mutations within rrl gene associated with clarithromycin resistance were detected in M. intracellulare and M. colombiense. …”
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Distinct relative abundances in pathogens detected in mechanically ventilated patients with suspected pneumonia in the intensive care unit at King Abdulaziz University Hospital by Haifa Algethamy, Diyaa H. Bokhary, Ibrahim Abushoshah, Abdulrahman A. Alalyani, Maan K. Baamer, Dalya M. Attallah, Ruba M. Alotaibi, Shehla N. Amin, Shaza A. Mass, Nisreen R. Tashkandy

“…In summary, patients on mechanical ventilation with pneumonia did not display notable phenotypic traits. K. pneumoniae and S. maltophilia were the most common taxa detected in the samples, although some variations in microbial composition were observed. …”
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Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies by Samuel Oluwadare Olalekan, Olalekan Olanrewaju Bakare, Patrick Godwin Okwute, Ifabunmi Oduyemi Osonuga, Muinat Moronke Adeyanju, Victoria Biola Edema

“…Abstract Background Hypertrophic cardiomyopathy (HCM) is a frequently encountered cardiac condition worldwide, often inherited, and characterized by intricate phenotypic and genetic manifestations. The natural progression of HCM is diverse, largely due to mutations in the contractile and relaxation proteins of the heart. …”
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Regulatory mechanism of exogenous myo-inositol improving high temperature stress tolerance of tomato seedlings by CHEN Yan, HAN Liyuan, DU Zilong, ZHU Dongxing, ZHU Weimin, ZHANG Yingying

“…[Methods] Tomato variety ‘NRP20- 7’ was used as the test material, and water and myo-inositol were sprayed separately at normal temperature and high temperature, respectively. The phenotypic changes under treatments were analyzed by hyperspectral imaging, and the physiological indexes of each treatment group were analyzed. …”
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A distinct metabolomic pattern revealed intestinal microenvironment factor-mediated food allergy in a BALB/c mouse model by Qiang Xie, Chenglong Liu, Wenhui Fu, Chen Chen, Dan Luo, Shimin Gu, Wentong Xue

“…In this study, we established a gluten allergy (GA) BALB/c mouse model and revealed the intestinal luminal factor-mediated alterations in phenotypes and endotypes of GA, combined with untargeted metabolomic profiling of the colonic contents. …”
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Reprogramming the tumor immune microenvironment using engineered dual-drug loaded Salmonella by Dinh-Huy Nguyen, Sung-Hwan You, Hien Thi-Thu Ngo, Khuynh Van Nguyen, Khang Vuong Tran, Tan-Huy Chu, So-young Kim, Sang-Jun Ha, Yeongjin Hong, Jung-Joon Min

“…Localized secretion of FlaB promotes phenotypic and functional remodeling of intratumoral macrophages that markedly inhibits tumor metastasis in mice bearing tumors of mouse and human origin. …”
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Multidisciplinary approach to functional somatic syndromes: study protocol for a population-based prospective cohort study by Hamidreza Roohafza, Harold Snieder, Fatemeh Hadizadeh, Peyman Adibi, Alireza Ani, Ahmad Vaez

“…The other aim is to develop a new delimitation of FSSs based on an integrated multidisciplinary approach comprising of phenotypic and multiomics data.Methods and analysis ISFUN is a population-based prospective cohort study designed to follow a population of randomly selected seemingly healthy adults (18–65 years) through annual visits during a 4-year observation period. …”
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Therapeutic effect of low-dose BMSCs-Loaded 3D microscaffold on early osteonecrosis of the femoral head by Minzheng Guo, Baochuang Qi, Zijie Pei, Haonan Ni, Junxiao Ren, Huan Luo, Hongxin Shi, Chen Meng, Yang Yu, Zhifang Tang, Yongqing Xu, Qingyun Xue, Chuan Li

“…Osteoblasts in the 3D microscaffold group exhibited superior phenotypes compared to the non-3D microscaffold group. …”
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Genetic parameter analysis and evaluation of maize hybrids under local climatic condition of Mymensingh, Bangladesh by Nahid Hasan, Md. Jahid Hasan Jone, Biswajit Das, Md. Nure Adil Siddique, Yousuf Islam, Md. Abul Kashem

“…Significant variation was observed among the hybrids for all phenological, growth, and yield contributing traits. The phenotypic coefficient of variation exceeds the genotypic coefficient of variation, indicating substantial environmental interactions. …”
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Assessment of cardiac iron deposition and genotypic classification in pediatric beta-thalassemia major: the role of cardiac MRI by Siqi Zhang, Wen Zhao, Longwei Sun, Guohua Liang, Xiaodong Wang, Hongwu Zeng

“…Abstract Background Beta thalassemia major (β-TM) is a severe genetic anemia with considerable phenotypic heterogeneity. This study investigated whether genotype correlates with distinct myocardial iron overload patterns, assessed by cardiovascular magnetic resonance (CMR) T2* values. …”
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Identification of quantitative trait loci and candidate genes associated with growth curve parameters in chinese wenshang barred chickens by Yan Zhou, Jie Liu, Qiuxia Lei, Haixia Han, Wei Liu, Dapeng Li, Yan Sun, Dan Hao, Fuwei Li, Dingguo Cao, Jie Wang

“…The mature body weight (A), time scale (b), and maturity rate (k) were treated as phenotypes for single-trait GWAS. The GWAS identified 44, 103, and 5 significant single nucleotide polymorphisms (SNPs) associated with A, b, and K, respectively. …”
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Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder by Claudia Fuchs, Laura Gennaccaro, Stefania Trazzi, Stefano Bastianini, Simone Bettini, Viviana Lo Martire, Elisa Ren, Giorgio Medici, Giovanna Zoccoli, Roberto Rimondini, Elisabetta Ciani

“…In conclusion, our study provides a comprehensive overview of neurobehavioral phenotypes of heterozygous female Cdkl5 +/− mice and demonstrates that the heterozygous female might be a valuable animal model in preclinical studies on CDKL5 disorder.…”
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