Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

“…Moreover, this study identified a novel homozygous missense variant (c.280C>G; p.R94G) in (NM_001308175.2) the SH3PXD2B gene as a causative variant for autosomal recessive FTHS. …”
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A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype by Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

“…At age 33 months, she showed hyperlactatemia, and genetic analysis showed compound heterozygous novel variants (NM_138395.4: c.[277G > A]; [409C > T]: p.…”
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Exploration of the shared diagnostic genes and molecular mechanism between obesity and atherosclerosis via bioinformatic analysis by Wenrong An, Kegong Tang, Juan Liu, Wenfei Zheng, Guoxia Li, Yunsheng Xu

“…We identified SAMSN1 and PHGDH as potential diagnostic genes for OB and AS. Our findings provide novel insights into the molecular underpinnings of the OB-AS link.…”
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Cadophora species from marine glaciers in the Qinghai-Tibet Plateau: an example of unsuspected hidden biodiversity by Bingqian Zhang, Xiaoguang Li, Guojie Li, Qi-Ming Wang, Manman Wang

“…The results show a high diversity of Cadophora from marine glaciers in the Qinghai-Tibet Plateau and most of them are novel species.…”
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Multifunctional Plumeria rubra nanoparticles: Antimicrobial, antiviral, antiparasitic and anti-inflammatory activities by Bassma H. Elwakil, Mohab H. Elsabrouty, Areej Eskandrani, Keshav Raj Paudel, Esraa Abdelhamid Moneer

“…Novel natural nanomaterials are extensively investigated nowadays due to their potential biological activities and low toxicity. …”
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Pac-Man-Shaped Patch-Driven Broadband Circularly Polarized Metasurface Antenna With CMA-Based Quadruple-Mode Excitation by Deepak K. Naik, Dhruba Charan Panda, Rajanikanta Swain, Arjuna Muduli, Sambhudutta Nanda

“…This paper introduces a novel quadruple-mode excited low-profile metasurface (MTS)-based broadband circularly polarized (CP) patch antenna. …”
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mTOR downregulation promotes anti-inflammatory responses via the CCL3-CCR5 axis in hypoxic retinopathy by Tae Kwon Moon, Im Kyeung Kang, Kyoung Jin Lee, Ji Hyun Kim, Hee Jong Kim, A. Reum Han, Ha-Na Woo, Joo Yong Lee, Jun-Sub Choi, Keerang Park, Heuiran Lee

“…These findings thus highlight the potential of AAV2-shmTOR to exert anti-inflammatory effects by influencing the mTOR and subsequent CCL3-CCR5 pathways in hypoxic retinopathies, presenting a novel therapeutic approach for retinal diseases marked by hypoxia-driven inflammation.…”
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Proteomic profiling of serum in cats with naturally occurring degenerative joint disease and co-morbid conditions by B. Duncan X. Lascelles, B. Duncan X. Lascelles, B. Duncan X. Lascelles, B. Duncan X. Lascelles, Rakesh Ponnala, Steven G. Kamerling, Tracey Williams

“…Further, these data could be leveraged to identify novel therapeutic targets to address the gap in our ability to manage DJD, pain, and CKD in cats. …”
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A structural genomics approach to investigate Dystrophin mutations and their impact on the molecular pathways of Duchenne muscular dystrophy by Abdelbaset Mohamed Elasbali, Farah Anjum, Osama A. AlKhamees, Waleed Abu Al-Soud, Mohd Adnan, Anas Shamsi, Md. Imtaiyaz Hassan

“…Six substitutions (N26H, N26K, G47W, D98G, G109A, and G109R) were predicted to decrease protein solubility and were located in minimally frustrated regions, potentially compromising Dystrophin functionality and contributing to DMD pathogenesis.ConclusionThis study provides novel insights into the molecular mechanisms of DMD, highlighting specific mutations that disrupt Dystrophin’s solubility and function. …”
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Purification, Characterization and Antibacterial Mechanism of Plantaricin 2-1 by Mengyang LI, Xiaoxue CHE, Qingshen SUN

“…Results showed that plantaricin P2-1 was a novel bacteriocin with the molecular weight of 983.564 Da. …”
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Machine Learning for Lung Cancer Subtype Classification: Combining Clinical, Histopathological, and Biophysical Features by Aiga Andrijanova, Lasma Bugovecka, Sergejs Isajevs, Donats Erts, Uldis Malinovskis, Andis Liepins

“…<b>Methods:</b> We developed and analyzed a novel dataset combining clinical, histopathological, and AFM-derived biophysical characteristics from 37 lung cancer patients. …”
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X-ray crystallographic diffraction study by whole powder pattern fitting (WPPF) method: Refinement of crystalline nanostructure polymorphs TiO2 by Md. Ashraful Alam, Shanawaz Ahmed, Raton Kumar Bishwas, Sabrina Mostofa, Shirin Akter Jahan

“…High crystalline preferred oriented low strain anatase utilizing a novel and unique approach employing the powder X-ray diffraction (XRD) technique is the prime focus of the investigation. …”
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Mechanical Activation of cPLA2 Impedes Fatty Acid β‐Oxidation in Vein Grafts by Linwei Fan, Yuanjun Tang, Jian Liu, Yueqi Liu, Yiwei Xu, Jiayu Liu, Han Liu, Wei Pang, Yuxuan Guo, Weijuan Yao, Tao Zhang, Qin Peng, Jing Zhou

“…This study uncovers a novel mechanism in lipid metabolic reprogramming in vein grafts, suggesting a new therapeutic target for vein graft hyperplasia.…”
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Evaluation of Antimicrobial and Wound Healing Effects of Gold Nanoparticles Containing Abelmoschus esculentus (L.) Aqueous Extract by Shahla Korani, Khodabakhsh Rashidi, Mona Hamelian, Ali R. Jalalvand, Ahmad Tajehmiri, Mitra Korani, Thozhukat Sathyapalan, Amirhossein Sahebkar

“…Nanotechnology has been increasingly proposed as a novel platform to treat wounds and skin regeneration. …”
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Multi-scale fracture characterization method for transitional shale reservoir based on post-stack multi-attribute ant-tracking fusion and pre-stack wide-azimuth gathers AVAZ analys... by Hongjie Peng, Jingtao Zhao, Zhen Qiu, Qin Zhang, Wen Liu, Weiliang Kong, Wanli Gao, Tongjie Sheng, Wenyu Li, Yugang Yang

“…The results of the fracture prediction are analyzed and validated. A novel and reliable methodology, designed specifically for the challenges of transitional shale reservoirs, has been developed for combined pre-stack and post-stack seismic multi-scale fracture prediction. …”
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Enhanced precise therapy of ROS-sensitive dual-layer shell nanoparticles loading quercetin on DSS-induced ulcerative colitis mice by Yang Bai, Danling Jiang, Boda Wu, Jiao Peng, Ji Wang, Yuhui Chen, Xi Li

“…Therefore, Que@Gel-DA NPs, a ROS-sensitive nano-drug delivery system, represent a novel therapeutic approach for the clinical intervention of UC.…”
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Transcatheter Approach for Critical Pulmonary Stenosis or Pulmonary Atresia with Intact Ventricular Septum in Young Infants Using the Simmons Catheter by Jian Wang, Jing Sun, Jian Shen, Jianping Yang, Ling Yang, Pengjun Zhao, Sun Chen

“…In this study, we introduced a novel transcatheter approach with the Simmons catheter to reach the RVOT and compared its efficacy and safety with those of the approaches using a floating catheter and the Judkins right coronary catheter. …”
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An easy approach to ultrasonographic volumetry of the thyroid by Tsukasa Murakami, Naoyuki Higaki, Yui Nishijima, Junichi Tani, Hitoshi Noguchi, Manami Morisaki, Misako Eto, Yoshiko Tani

“…Because the right lobes were larger than the left lobes, the products of the depth and width of the right lobe were adopted as novel parameters for an easy volumetric approach. …”
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Deep-learning based electromagnetic navigation system for transthoracic percutaneous puncture of small pulmonary nodules by Muyun Peng, Xinyi Fan, Qikang Hu, Xilong Mei, Bin Wang, Zeyu Wu, Huali Hu, Lei Tang, Xinhang Hu, Yanyi Yang, Chunxia Qin, Huajie Zhang, Qun Liu, Xiaofeng Chen, Fenglei Yu

“…Abstract Percutaneous transthoracic puncture of small pulmonary nodules is technically challenging. We developed a novel electromagnetic navigation puncture system for the puncture of sub-centimeter lung nodules by combining multiple deep learning models with electromagnetic and spatial localization technologies. …”
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IgG Glycosylation Profile and the Glycan Score Are Associated with Type 2 Diabetes in Independent Chinese Populations: A Case-Control Study by Zhiyuan Wu, Haibin Li, Di Liu, Lixin Tao, Jie Zhang, Baolu Liang, Xiangtong Liu, Xiaonan Wang, Xia Li, Youxin Wang, Wei Wang, Xiuhua Guo

“…IgG glycosylation profiles were associated with type 2 diabetes and the glycan score may be a novel indicator for diabetes which reflected a proinflammatory status.…”
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