Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. by Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick

“…FISH mapping in an individual with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. …”
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Bacteriostatic effect of Echeveria extracts on diarrheagenic E. coli pathotypes and non-cytotoxicity on human Caco-2 cells by Sandra Olivas-Quintero, Rodolfo Bernal-Reynaga, Catalina Lopez-Saucedo, Samantha Maldonado-Puga, Sylvia Paz Díaz-Camacho, Salvador Uribe-Carvajal, Francisco Delgado-Vargas, Teresa Estrada-Garcia

“…Colorectal adenocarcinoma cells viability by MTT assay and cytokine production using a Cytometric Bead Array kit. Results: Extracts concentrations of 100 μg/mL and 5-hour incubation, reduced more than 93% the growth of all diarrheagenic E. coli pathotypes tested strains and significantly decreased bacterial oxygen consumption, like bacteriostatic antibiotics. …”
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Association of NCOA6 Gene Polymorphism with Milk Production Traits in Chinese Holstein Cows by Muhammad Talha Bin Tahir, Sahar Ghulam Mohyuddin, Yiyang Yao, Yanru Wang, Yan Liang, Niel A. Karrow, Yongjiang Mao

“…It is also involved in many processes like cell survival, metabolism, homeostasis, and embryonic development. …”
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Atypical down syndrome features with an atypical chromosomal rearrangement: a case report by Hiba Abu Khalil, Mohammed Almannai, Mohammed Albalwi, Wafaa Eyaid

“…However, its limitations include the rarity of the case, which restricts the availability of comparative data, and potential influencing factors like prematurity and low birth weight. [JBCGenetics 2024; 7(1.000): 30-32]…”
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TAp63γ is the primary isoform of TP63 for tumor suppression but not development by Xinbin Chen, Wenqiang Sun, Xiangmudong Kong, Xin Ming, Yanhong Zhang, Wensheng Yan, Shakur Mohibi, Mingyi Chen, Keith Mitchell, Jin Zhang

“…While TAp63 and ΔNp63 are expressed as three TAp63α/β/γ and ΔNp63α/β/γ due to alternative splicing, only p63α (TA and ΔN) and p63γ (TA and ΔN) proteins are found to be detectable and likely to be responsible for p63-dependent activity. …”
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Effects of Tobacco Usage and Antiretroviral Therapy on Biomarkers of Systemic Immune Activation in HIV-Infected Participants by Helen C. Steel, W. D. Francois Venter, Annette J. Theron, Ronald Anderson, Charles Feldman, Luyanda Kwofie, Tanita Cronjé, Natasha Arullapan, Theresa M. Rossouw

“…Like HIV infection, smoking, which is common among HIV-infected persons, is associated with chronic, systemic inflammation. …”
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Multi‐Omics Analysis Reveals Disturbances of Purine Metabolism and Glutamate Metabolism in the Hippocampus of Lipopolysaccharide‐Induced Mouse Model of Depression by Wen‐Wen Li, Rui Xiao, Xue‐Yi Chen, Jun‐Cai Pu, Jian‐Jun Chen, Hai‐Yang Wang, Lan‐Xiang Liu, Dan Li, Yang‐Dong Zhang, Wen‐Xia Li, Peng Xie

“…Methods In this pioneering study, we employed a comprehensive multi‐omics approach, integrating 2‐DE proteomics, liquid chromatography mass spectrometry‐based metabolomics, and real‐time polymerase chain reaction (PCR) array, to investigate the hippocampal molecular profiles of lipopolysaccharide (LPS)‐induced immune inflammation‐related depression. …”
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Recent advances on coxsackievirus A6 vaccine research by Xianfeng Zhou, Xianfeng Zhou, Han Mo, Hui Li, Fenglan He, Qian Yang, Qian Yang, Qian Yang

“…The objective of this review is to establish a theoretical foundation for the formulation of preventive and control strategies, as well as the development of vaccines against not only CVA6 but also other key serotypes in the future.Key scientific concepts of reviewThe review comprehensively addresses the diverse array of CVA6 vaccine development, encompassing a range of modalities such as inactivated, virus-like particle, and subunit vaccines, among others. …”
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Development and Evaluation of a GPT4-Based Orofacial Pain Clinical Decision Support System by Charlotte Vueghs, Hamid Shakeri, Tara Renton, Frederic Van der Cruyssen

“…<b>Background</b>: Orofacial pain (OFP) encompasses a complex array of conditions affecting the face, mouth, and jaws, often leading to significant diagnostic challenges and high rates of misdiagnosis. …”
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Camouflage or Coincidence? Investigating the Effects of Spatial and Temporal Environmental Features on Feral Cat Morphology in Tasmania by Alexandra J. Paton, Barry W. Brook, Jessie C. Buettel

“…ABSTRACT Variations in coat morphology are well documented among felids and are theorised to aid in camouflage during stalk and ambush hunting. A diverse array of coat types has arisen in Felis catus (feral cats) through domestication and subsequent selective breeding. …”
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Epigenomic signatures of accelerated epigenetic aging are associated with congenital heart disease in newborns by Kristen Kocher, Julius Ngwa, Surajit Bhattacharya, Mary Donofrio, Catherine Limperopoulos, Nickie Andescavage

“…Results Using a methylation array approach, we analyzed the epigenetic age of 33 newborns with complex CHD requiring neonatal cardiac surgery and 26 healthy controls. …”
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Functional analysis of JPH2-knockout cardiomyocytes identifies ECCD as a novel indicator in a human cardiac modelJPH2 by Tianwei Guo, Hongyue Wang, Fujian Wu, Wenjing Lu, Min Zhu, Shuhong Ma, Yongshuai Zhang, Yuting Yan, Meng Zhou, Didaer Talanaite, Siyu Liu, Man Qi, Feng Lan, Xujie Liu

“…Results JPH2 knockout disrupted excitation-contraction coupling in hESC-CMs by impairing junctional membrane complex structure, leading to heart failure-like phenotypes with reduced contractility, altered calcium dynamics, and electrophysiological irregularities. …”
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WOUND MANAGEMENT, HEALING, AND EARLY PROSTHETIC REHABILITATION: PART 2 - A SCOPING REVIEW OF PHYSICAL BIOMARKERS by Hannnelore Williams-Reid, Anton Johannesson, Adrianus Buis

“…Using a combination of different physical markers (while considering things like overall health and existing medical conditions) can give us a much better understanding of how healing works. …”
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The Proxima Centauri Campaign—First Constraints on Millimeter Flare Rates from ALMA by Kiana Burton, Meredith A. MacGregor, Rachel A. Osten, Ward S. Howard, Alycia J. Weinberger, Evgenya Shkolnik, David J. Wilner, Jan Forbrich, Thomas Barclay

“…The discovery of millimeter flares from this M dwarf with Atacama Large Millimeter/submillimeter Array (ALMA) has opened a new window into the flaring process and the space-weather environments of exoplanets like Proxima b. …”
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An Embedded Disk (eDisk) in the IceAge: Investigating the Jet and Outflow from Ced 110 IRS4 by Mayank Narang, Nagayoshi Ohashi, John J. Tobin, M. K. McClure, Jes K. Jørgensen, Jinshi Sai (Insa Choi), eDisk + IceAge Team

“…NIRCam images, combined with ALMA continuum and CO data, reveal arc-like structures (∼1100 au), suggesting a dense envelope around the protostars. …”
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Plant growth-promoting endophytic consortium improved artemisinin biosynthesis via modulating antioxidants, gene expression, and transcriptional profile in Artemisia annua (L.) und... by Arpita Tripathi, Praveen Pandey, Shakti Nath Tripathi, Alok Kalra

“…., an important medicinal plant in traditional Chinese medicine, produces an array of secondary metabolites, most notably artemisinin, a potent anti-malarial phytomolecule. …”
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Glycine rich proteins of ticks: more than a cement component by Renata Perotto de Souza, Mariana Vieira Dalla Valentina, Bruna Ferreira Leal, Sílvia Dias Oliveira, Carlos Alexandre Sanchez Ferreira, Ala Tabor

“…GRPs have been identified in a diverse array of organisms and have been shown to possess a number of distinctive biological characteristics, including nucleic acid binding, adhesive glue-like properties, antimicrobial activity, involvement in the stress response and in the formation of cuticle components. …”
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Metabolic Effects of Loquat Juice (<i>Eriobotrya japonica</i> Lindl <i>Mkarkeb</i> Variety) on Lipid Homeostasis, Liver Steatosis, and Oxidative Stress in Hyperlipidemic Mice Fed a... by Imane Mokhtari, Thamer Aljutaily, Huda Aljumayi, Khadija S. Radhi, Abdulkarim S. Almutairi, Hassan Barakat, Ibrahim Khalifa, Souliman Amrani, Hicham Harnafi

“…Background: Loquat fruit is consumed for its flavorful taste and a rich array of health-promoting compounds like phenolics, flavonoids, and carotenoids. …”
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Salt Stress Leads to Morphological and Transcriptional Changes in Roots of Pumpkins (<i>Cucurbita</i> spp.) by Hongjiu Liu, Ding Ding, Yeshuo Sun, Ruiping Ma, Xiaoqing Yang, Jie Liu, Guoxin Zhang

“…To deal with salt stress, plants exhibit an array of responses such as changes in their root system architecture. …”
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Probing Equatorial Ionospheric TEC at Sub-GHz Frequencies with Wide-Band (B4) uGMRT Interferometric Data by Dipanjan Banerjee, Abhik Ghosh, Sushanta K. Mondal, Parimal Ghosh

“…Radio interferometers such as the giant metrewave radio telescope (GMRT) are capable of detecting changes in the ionosphere’s total electron content (TEC) over larger spatial scales and with greater sensitivity compared to conventional tools like the global navigation satellite system (GNSS). …”
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