Trio-based whole-exome sequencing reveals mutations in early-onset high myopia by Ding Chen, Xiu-Feng Huang, Juan Huang, Yi-Ming Guo, Junhan Wei, Lu Ye, Yi-Xin Cai, Jiejing Bi, Fen-Fen Li

“…Pathogenic mutations were found in syndromic myopia genes, notably encompassing VPS13B, TRPM1, RPGR, NYX and RP2. …”
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Host protein PRPS2 interact with the non-structural protein p17 of Avian Reovirus and promote viral replication by Hu Xiaomiao, Zhao Ruihong, Li Wei, Pan Xiaocheng, Dai Yin, Wu Huimin, Wu Yantao, Zhang Chengcheng

“…To further elucidate the pathogenic mechanism basis of ARV p17 protein function, we employed a yeast two-hybrid system to identify Phosphoribosyl pyrophosphate synthetase 2 (PRPS2) as an interacting host protein with p17. …”
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Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria by Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge

“…Median age at diagnosis was 8 years (range 2–12). Three pathogenic variants (c.1006C>T, c.785C>T and c.19del) and two likely pathogenic variants (c.869C>T, c.772G>A) in CBS gene were identified. …”
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Mesenchymal stem cell‐derived exosomes mitigate amyloid β‐induced retinal toxicity: Insights from rat model and cellular studies by Amanda Qarawani, Efrat Naaman, Rony Ben‐Zvi Elimelech, Michal Harel, Shahaf Sigal‐Dror, Tali Ben‐Zur, Tamar Ziv, Daniel Offen, Shiri Zayit‐Soudry

“…Therefore, targeting a broad array of pathogenic processes holds promise for therapeutic intervention in AMD‐associated retinal pathology. …”
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Correlation Analysis Between Multi-Drug Resistance Phenotype and Virulence Factor Expression of Clinical <i>Pseudomonas aeruginosa</i> by Wenli Xu, Runcheng Zhou, Jingwei Pan, Zhuangcong Liu, Xuyu Huang, Yueqiao Lin, Nan Li, Kecan Chen, Wenbo Sun, Yi Deng, Anping Yang, Xin Chen

“…<i>Pseudomonas aeruginosa</i> (PA), as a common pathogen of nosocomial infections, has been experiencing an increasing rate of drug resistance with the widespread use and abuse of antimicrobial drugs. …”
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Development of High Dietary Fiber Cereal Bar as Emergency Food Product and The Chemical-Microbiological Properties and Nutritional Content by Ani Radiati, Sumarto Sumarto, Fahmi Hafid, Emma Kamelia, Lia Nurcahyani, Dini Mariani, Siti Badriah, Tjahja Muhandri

“…Microbiological tests confirmed that the product was safe from pathogenic microbes, with total plate count (TPC) and Enterobacteriaceae  within safe limits. …”
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Clinical and Epidemiological Characteristics of <i>Staphylococcus caprae</i> Infections in Catalonia, Spain by Javier Díez de los Ríos, María Navarro, Judit Serra-Pladevall, Sònia Molinos, Emma Puigoriol, Noemi Párraga-Niño, Glòria Pedemonte-Parramón, Luisa Pedro-Botet, Óscar Mascaró, Esteban Reynaga

“…<i>Staphylococcus caprae</i> is a coagulase-negative staphylococcus commonly associated with animals which can also be a zoonotic human pathogen. To date, there is little data available on <i>S. caprae</i> infections. …”
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Protective Efficacy of Decreasing Antigen Doses of a <i>Chlamydia abortus</i> Subcellular Vaccine Against Ovine Enzootic Abortion in a Pregnant Sheep Challenge Model by Morag Livingstone, Kevin Aitchison, Javier Palarea-Albaladejo, Francesco Ciampi, Clare Underwood, Antonia Paladino, Francesca Chianini, Gary Entrican, Sean Ranjan Wattegedera, David Longbottom

“…Background/Objective: <i>Chlamydia abortus</i>, the cause of ovine enzootic abortion, is a zoonotic bacterial pathogen and one of the most infectious causes of foetal death in sheep worldwide. …”
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Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population by Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

“…In our previous study, three pathogenic mutations in TMPRSS3 were identified in one Chinese family. …”
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Isolation and Characterization of <i>Lactobacillus gasseri</i> Strains from Women for Potential Vaginal Health Applications by Eui-Chun Chung, Jong Seo Lee, Hye Ji Lim, Seok-Jin Kim, Youn-Jee Chung, Kum-Joo Shin

“…BELG74 produced the most lactic acid at a concentration of 20.12 g/L, which correlated with anti-pathogenic activity against <i>Gardnerella vaginalis</i>, <i>Fannyhessea vaginae,</i> and <i>Candida albicans</i> of more than 90%. …”
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In silico comparative genomic analysis unravels a new candidate protein arsenal specifically associated with Fusarium oxysporum f. sp. albedinis pathogenesis by Hafida Ayada, Boutayna Dhioui, Hamid Mazouz, Abdelhay El harrak, Fatima Jaiti, Bouchra Ouhmidou, Mohammed Diouri, Mohieddine Moumni

“…To unravel the genetic characteristics associated with its pathogenesis, the two available genomes of Foa 133 and Foa 9 were compared with 49 genomes of 29 other pathogenic formae speciales belonging to Fusarium oxysporum species complex (FOSC). …”
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Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

“…CNV-seq revealed a 16p11.2 microdeletion syndrome in a situs inversus fetus presenting pathogenic and a 2q36.3 microduplication syndrome in a fetus with Heterotaxy presenting a variant of uncertain significance (VUS). …”
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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

“…Targeted next-generation sequencing of the patient’s blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant.…”
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Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia by Arta Katkevica, Madara Kreile, Ieva Grinfelde, Gita Taurina, Ieva Micule, Iveta Dzivite-Krisane, Arta Smite-Laguna, Ieva Malniece

“…In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. The difficulties encountered establishing a diagnosis for the first proband and the effective prenatal diagnosis for the second offspring that led to termination of the pregnancy are discussed.…”
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Staphylococcus aureus Infections in the Paediatric Intensive Care Unit: Illustrated Cases by Kam Lun Hon, Ronald C. M. Fung, Karen K. Y. Leung, Alexander K.C. Leung, Wun Fung Hui, Wing Lum Cheung

“…Staphylococcus aureus is known to be one of the most common gram-positive microorganisms and an important pathogen associated with sepsis and toxic shock. We present four anonymized consecutive cases in a paediatric intensive care unit (PICU) to illustrate the different clinical manifestations of staphylococcal infections, including local infection versus systemic infection, toxic shock versus septic shock, and osteomyelitis. …”
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Integrated Management of Bacterial Spot on Tomato in Florida by Amanda Strayer-Scherer, Ying-Yu Liao, Peter Abrahamian, Sujan Timilsina, Mathews Paret, Tim Momol, Jeff Jones, Gary Edward Vallad

“…This new 8-page publication of the UF/IFAS Plant Pathology Department presents updated information about the causal pathogen and management of bacterial spot on tomato in Florida. …”
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Sudden Oak Death by Philip F. Harmon, Carrie L. Harmon

“…Because sudden oak death is a new disease, much about the pathogen, host range, and the disease epidemiology is unknown. …”
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Cerebral Amyloidoma Resulting from Central Nervous System Lymphoplasmacytic Lymphoma: A Case Report and Literature Review by Geetha Jagannathan, Guldeep Uppal, Kevin Judy, Mark T. Curtis

“…Cerebral amyloid accumulation can be the result of a number of disease states and it is crucial for proper patient care to identify the pathogenic process leading to amyloidoma formation. …”
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Viruses Seen by Our Cells: The Role of Viral RNA Sensors by Elias A. Said, Nicolas Tremblay, Mohammed S. Al-Balushi, Ali A. Al-Jabri, Daniel Lamarre

“…These receptors have the capacity to sense the presence of viral nucleic acids as pathogen-associated molecular patterns (PAMPs). This recognition leads to the induction of type 1 interferons (IFNs) as well as inflammatory cytokines and chemokines. …”
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The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes by Daria Diodato, Daniele Ghezzi, Valeria Tiranti

“…This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.…”
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