Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome by Hannah M. Rea, Sara Jane Webb, Sara Jane Webb, Evangeline C. Kurtz-Nelson, Caitlin M. Hudac, Caitlin M. Hudac, Raphael A. Bernier, Conor Miles, Rachel Earl, Alana Whiting, Curtis Eayrs, Margaret Johansson, Tianyun Wang, Tianyun Wang, Tianyun Wang, Evan E. Eichler, Evan E. Eichler, Emily Neuhaus, Emily Neuhaus

“…IntroductionDYRK1A, a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. …”
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Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome by Federica Tiberio, Martina Salvati, Luca Polito, Giada Tisci, Alessia Vita, Ornella Parolini, Luca Massimi, Lorena Di Pietro, Pierpaolo Ceci, Gianpiero Tamburrini, Alessandro Arcovito, Elisabetta Falvo, Wanda Lattanzi

“…The selected therapeutic siRNA mitigated FGFR2 cascade downregulating phosphorylation of FGFR2 (48%) and of its key effector ERK1/2 (77%) as RUNX2 protein levels (34%). This effect was confirmed by the reduced osteogenic commitment and differentiation of treated cells, evidenced by decreased expression of osteogenic marker genes and a 5-fold decrease in mineralized matrix deposition. …”
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Urine kidney injury molecule-1 predicts subclinical kidney disease among persons living with HIV initiating tenofovir disoproxil fumarate-based ART in Zambia by Freeman W. Chabala, Edward D. Siew, Edward D. Siew, Edward D. Siew, C. William Wester, C. William Wester, Alana T. Brennan, Alana T. Brennan, Alana T. Brennan, Masauso M. Phiri, Michael J. Vinikoor, Michael J. Vinikoor, Sepiso K. Masenga, Muktar H. Aliyu, Muktar H. Aliyu, Muktar H. Aliyu

“…Kidney injury biomarkers such as kidney injury molecule-1 (KIM-1), retinol-binding protein-4 (RBP-4), interleukin-18 (IL-18), and neutrophil gelatinase-associated lipocalin (NGAL) can aid early diagnosis and predict TDF-associated nephrotoxicity. …”
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Neutralizing antibody test supports booster strategy for young individuals after SARS-CoV-2 Omicron breakthrough by Yichuan Yao, Yunru Yang, Qiqin Wu, Mengyao Liu, Wei Bao, Qiutong Wang, Meijun Cheng, Yunuo Chen, Yiting Yu, Yuan Cai, Mei Zhang, Jingxue Yao, Hongliang He, Changjiang Jin, Changcheng Zheng, Tengchuan Jin, Dali Tong

“…Results Inoculation with inactivated prototype SARS-CoV-2 vaccines or recombinant protein vaccines showed higher IgG levels after infection than the unvaccinated individuals. …”
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Pre-existing IgG antibodies to HCoVs NL63 and OC43 Spike increased during the pandemic and after COVID-19 vaccination by Zahra Hasan, Kiran Iqbal Masood, Marc Veldhoen, Shama Qaiser, Marta Alenquer, Mishgan Akhtar, Sadaf Balouch, Junaid Iqbal, Yaqub Wassan, Shahneel Hussain, Khalid Feroz, Sajid Muhammad, Atif Habib, Akbar Kanji, Erum Khan, Afsar Ali Mian, Rabia Hussain, Maria Joao Amorim, Zulfiqar A. Bhutta

“…IgG antibody levels increased during the pandemic; 2.7-fold to HCoV-NL63 and 1.9-fold to HCoV-OC43.SinoVac and BNT162b2 vaccine induced an increase in IgG antibodies to Spike SARS-CoV-2 as well as HCoV-NL63 and HCoV-OC43.Our data show that antibodies to spike protein of endemic coronaviruses were present in the prepandemic population. …”
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Effect of Ideal Amino Acid Ratio of Arginine to Lysine on Intake, Nutrient Digestibility, Growth Performance, Antibody Titers of Newcastle Disease and Infectious Bronchitis Disease... by Wahab Liaqat, Urooj Anwar, Asfa Fatima, Azhar Rafique, Riaz Mustafa, Umar Farooq, Faisal Ramzan, Waseem Abbas, Muhammad Farooq Khalid, Muhammad Ashraf, Muhammad Riaz, Muhammad Qamar Bilal, Muhammad Aziz ur Rahman

“…The results of nutrient digestibility explored showed that the experimental treatments had a better effect (<i>p</i> < 0.05) on dry matter and crude fat digestibility in birds fed with 1.19/1.25, 1.12/1.18, and 1.05/1.1 and 1.25/1.25, 1.18/1.18, and 1.1/1.1 Arg/Lys in their diets while the crude protein digestibility remained unaffected with different treatments (<i>p</i> > 0.05). …”
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APOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology by Kristine M. Tran, Nellie E. Kwang, Claire A. Butler, Angela Gomez-Arboledas, Shimako Kawauchi, Cassandra Mar, Donna Chao, Rocio A. Barahona, Celia Da Cunha, Kate I. Tsourmas, Zechuan Shi, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Joshua A. Alcantara, Jonathan Neumann, Duc M. Duong, Nicholas T. Seyfried, Andrea J. Tenner, Frank M. LaFerla, Lindsay A. Hohsfield, Vivek Swarup, Grant R. MacGregor, Kim N. Green

“…Bulk proteomics show upregulated mitochondrial protein abundance with ApoeCh in 5xFAD mice, but reductions in mitochondrial and translation associated proteins in PS19 mice. …”
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Sarcopenic obesity is attenuated by E-syt1 inhibition via improving skeletal muscle mitochondrial function by Chao Song, Wu Zheng, Guoming Liu, Yiyang Xu, Zhibo Deng, Yu Xiu, Rongsheng Zhang, Linhai Yang, Yifei Zhang, Guoyu Yu, Yibin Su, Jun Luo, Bingwei He, Jie Xu, Hanhao Dai

“…Using bioinformatics analysis, we found a potential target protein Extended Synaptotagmin 1 (E-syt1) in SO. To investigate the regulatory role of E-syt1 in muscle metabolism, we performed in vivo and in vitro experiments through E-syt1 loss- and gain-of-function on muscle physiology. …”
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Generation of a genetically encoded voltage indicator MARINA reporter human iPS cell line using Cas9 (VULSCi002-A-2) by Aistė Petruškevičiūtė, Ugnė Šimuliūnaitė, Catalina M. Polanco, Barbara Rojas, Simonas Kuras, Beatričė Valatkaitė-Rakštienė, Rimvydas Norvilas, Akshay Kumar Vijaya, Patricia Muñoz, Urtė Neniškytė, Artūras Jakubauskas, Aurelijus Burokas, Ivan Nalvarte, Jose Inzunza, Daniel Naumovas, Mindaugas Stoškus, Laimonas Griškevičius, Daiva Baltriukienė, Jonathan Arias

“…Fluorescent protein-based Genetically Encoded Voltage Indicators (GEVI) offer a remarkable system for high-throughput screening of membrane potential phenotypes. …”
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PD-1-expressing macrophages and CD8 T cells are independent predictors of clinical benefit from PD-1 inhibition in advanced mesothelioma by Solange Peters, Urania Dafni, Panagiota Zygoura, Sanjay Popat, Mary O'Brien, Rolf A Stahel, Alessandra Curioni-Fontecedro, Georges Coukos, Amy Roy, Riyaz Shah, Krisztian Homicsko, James Spicer, Stephen P Finn, David Gilligan, Maxim Norkin, Stephanie Tissot, Nicholas Shakarishvili, Anthony Pope, Patricia Fisher, Sylvie Rusakiewicz, Ekaterina Fortis, Nesa Marti, Roswitha Kammler

“…Background Few tissue biomarkers exist to date that could enrich patient with cancer populations to benefit from immune checkpoint blockade by programmed cell death protein 1/ligand-1 (PD-/L-1) inhibitors. PD-L1 expression has value in this context in some tumor types but is an imperfect predictor of clinical benefit. …”
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Iodine activates NLRP3 inflammasomes in PBMCs of patients with autoimmune thyroiditis and regulates Th1 and Th17 cell differentiation by Ying Wu, Qingling Guo, Yongping Liu, Xun Gong, Wei Sun, Yushu Li, Chenling Fan, Weiping Teng, Zhongyan Shan

“…In PBMCs, the mRNA and protein expressions of certain inflammasome constituents (e.g., NLRP1, NLRP3, absent in melanoma 2 (AIM2) and caspase-1), interleukin (IL)-1β and IL-18 were assessed using qRT-PCR and western blotting. …”
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Local and distant response to intratumoral immunotherapy assessed by immunoPET in mice by Aurélien Marabelle, Louis Meyblum, Lambros Tselikas, Thierry de Baere, Sandrine Susini, Fréderic Deschamps, Baptiste Bonnet, Céline Chevaleyre, Benoit Jego, Dimitri Kereselidze, Vincent Lebon, Charles Truillet

“…However, a comprehensive understanding of the local and systemic distribution of ICBs following intratumoral administration, as well as their impact on distant tumors, remains crucial for optimizing their therapeutic potential.To comprehensively investigate the distribution patterns following the intratumoral and intravenous administration of radiolabeled anti-cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and to assess its corresponding efficacy in both injected and non-injected tumors, we conducted an immunoPET imaging study.Methods CT26 and MC38 syngeneic colorectal tumor cells were implanted subcutaneously on both flanks of Balb/c and C57Bl/6 mice, respectively. …”
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FGF21 and APOA1 mRNA-based therapies for the treatment of experimental acute pancreatitis by Amaya Lopez-Pascual, Eva Santamaria, Nuria Ardaiz, Iker Uriarte, Tiffany Palmer, Anne-Renee Graham, Celia Gomar, Roberto C. Barbero, M. Ujue Latasa, Maria Arechederra, Jesus M. Urman, Carmen Berasain, Antonio Fontanellas, Carlos L. del Rio, Maite G. Fernandez-Barrena, Paolo G.V. Martini, Joshua R. Schultz, Pedro Berraondo, Matias A. Avila

“…Results In vitro studies demonstrated the translation and secretion of APOA1, FGF21, and APOA1-FGF21 proteins encoded by the LNP-mRNAs. In vivo, LNP-mRNA administration increased serum levels of the respective proteins in metabolically impaired (i.e. high fat diet-fed) mice. …”
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Autoinducer-2 enhances the defense of Vibrio furnissii against oxidative stress and DNA damage by modulation of c-di-GMP signaling via a two-component system by Heng Zhang, Wenjin Zhao, Wenguang Yang, Huimin Zhang, Xinyu Qian, Kai Sun, Qiao Yang, Xihui Shen, Lei Zhang

“…It is worth noting that the periplasmic protein LuxP is the uniquely identified receptor for AI-2 in Vibrio spp. …”
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Study on the In Vitro and In Vivo Antioxidant Activity and Potential Mechanism of <i>Polygonum viviparum</i> L. by Zhen Yang, Jingyuan Man, Haoyu Liu, Di Wu, Qiangwen Gu, Hongjuan Zhang, Yu Liu, Dan Shao, Baocheng Hao, Shengyi Wang

“…Furthermore, the candidate antioxidant targets of PV were analyzed and screened using a comprehensive network pharmacology method, and their expression were then examined at the mRNA level and protein level. Our results suggest that PV may protect against H₂O₂-induced oxidative damage in macrophages by activating BCL2L1 and inhibiting ESR1, JAK2/STAT3, and MMP2. …”
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Peptide platform for 3D-printed Ti implants with synergistic antibacterial and osteogenic functions to enhance osseointegration by Chenying Cui, Yifan Zhao, Jingyu Yan, Ziyang Bai, Guning Wang, Yingyu Liu, Yurong Xu, Lihong Zhou, Kaifang Zhang, Yanling Mi, Binbin Zhang, Xiuping Wu, Bing Li

“…The implants reduced bacterial colonization while enhancing adhesion, proliferation, and differentiation of bone marrow mesenchymal stem cells (BMSCs), significantly upregulating osteogenic genes and protein expression. Transcriptome sequencing further explored the molecular mechanisms underlying the synergistic effects of 3DTi-NFP, revealing activation of the focal adhesion and PI3K-Akt signaling pathways-key contributors to cell adhesion, matrix formation, and new bone formation. …”
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Pumpkin seed oil-loaded chitosan nanoparticles enhance growth, digestive enzymes, and immune response in whiteleg shrimp (Litopenaeus vannamei): Impacts on histopathology and survi... by El-Sayed Hemdan Eissa, Wesam Mohamed Salama, Samia Elbahnaswy, Mai A.M. El-Son, Zienab E. Eldin, Sara Amer, Layla A. Almutairi, Fatma Mohamed Ameen Khalil, Safia M.A. Bahshwan, Mada M. AL-Qurashi, Yasmin M. Abd El-Aziz, Moaheda E.H. Eissa, Aiman A. Alsaegh, Roshmon Thomas Mathew, El Sayed Taha Rizk

“…These groups also exhibited significant increases in crude protein, ash content, phagocytic index, superoxide dismutase, and lipase levels (P < 0.05). …”
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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel... by A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

“…Some of these specifications include refining the minor allele frequency thresholds, creating a FBN1-specific flowchart for PVS1, defining functional domains of the protein, developing a point-based system of counting probands and instances of de novo occurrences, recommending a points-based method of accounting for family segregation data, and clarifying the applicable functional assays that should be considered. …”
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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

“…The most common form of HAE, HAE-C1-INH, is caused by deleterious mutations in the SERPING1 gene, encoding the C1-Inhibitor protein, and its diagnosis is confirmed by decreased C1-INH function. …”
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Longitudinal association between DNA methylation and type 2 diabetes: findings from the KORA F4/FF4 study by Liye Lai, Dave Laurence Juntilla, Monica Del, Monica Del C Gomez-Alonso, Harald Grallert, Barbara Thorand, Aiman Farzeen, Wolfgang Rathmann, Juliane Winkelmann, Holger Prokisch, Christian Gieger, Christian Herder, Annette Peters, Melanie Waldenberger

“…We identified 64 sites associated with T2D including 15 novel sites as well as known associations like those with the thioredoxin-interacting protein (TXNIP) and ATP-binding cassette sub-family G member 1 (ABCG1) genes. …”
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