SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome. …”
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Mapping quantitative trait loci regions associated with Marek’s disease on chicken autosomes by means of selective DNA pooling by Ehud Lipkin, Jacqueline Smith, Morris Soller, David W. Burt, Janet E. Fulton

“…Substantial allele effect and contribution to the phenotypic and genotypic variation were obtained. The results explain part of the MD response, and provide targets for mitigating MD.…”
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Genomic Landscape and Prediction of Udder Traits in Saanen Dairy Goats by Xiaoting Yao, Jiaxin Li, Jiaqi Fu, Xingquan Wang, Longgang Ma, Hojjat Asadollahpour Nanaei, Ali Mujtaba Shah, Zhuangbiao Zhang, Peipei Bian, Shishuo Zhou, Ao Wang, Xihong Wang, Yu Jiang

“…Using data from 635 Saanen dairy goats, genotyped for over 14,717,075 SNP markers and phenotyped for three udder traits, heritability was 0.16 for udder width, 0.32 for udder depth, and 0.13 for teat spacing, with genetic correlations of 0.79, 0.70, and 0.45 observed among the traits. …”
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Characterization of microbial populations associated with different organic fertilizers by Natalia Escobar, Nelson E Arenas, Sara M Marquez

“…Bacterial and fungal isolation and identification were performed through standard phenotypic methods. Statistical methods to assess differences between treatments included Shannon diversity, Chi-square tests, Bray-Curtis clustering, and Canonical Correspondence Analysis.…”
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The role of TRECs/KRECs as immune indicators that reflect immunophenotypes and predict the risk of infection in systemic autoimmune diseases by Takuji Itakura, Hirokazu Sasaki, Tadashi Hosoya, Natsuka Umezawa, Tetsuya Saito, Hideyuki Iwai, Hisanori Hasegawa, Hiroyuki Sato, Akihiro Hirakawa, Kohsuke Imai, Tomohiro Morio, Naoki Kimura, Shinsuke Yasuda

“…To clarify the significance of TRECs and KRECs as immune indicators in patients with systemic autoimmune diseases, we prospectively evaluated TREC and KREC levels with qPCR, lymphocyte phenotypes with flow cytometry, along with lymphocyte counts and serum immunoglobulin levels in peripheral blood samples from newly diagnosed patients. …”
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Research priorities for improving cognitive and neuropsychological outcomes in hydrocephalus by Nickolas Dasher, T. Andrew Zabel, Maria Garcia-Bonilla, Lauren L. Jantzie, Mark G. Hamilton, Michael A. Williams, Monica J. Chau

“…The following paper outlines four primary areas that warrant research: (1) neuropsychological phenotypes, (2) treatment-focused research considerations, (3) translational pre-clinical tools, and (4) establishing pathways for longitudinal care. …”
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Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network by Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Luca Cantarini

“…Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis.…”
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Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model by Denise S. Hill, Robert Cabrera, Deeann Wallis Schultz, Huiping Zhu, Wei Lu, Richard H. Finnell, Bogdan J. Wlodarczyk

“…We tested the hypothesis that in utero exposure to heavy metals increases autism-like behavioral phenotypes in adult animals and induces epigenetic changes in genes that have roles in the etiology of autism. …”
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Coexistence of β-Lactamases in Community-Acquired Infections in a Tertiary Care Hospital in India by Shahzad Mirza, Savita Jadhav, R. N. Misra, Nikunja Kumar Das

“…An antibiotic susceptibility test, screening, and phenotypic confirmation for ESBLs and carbapenemases and AmpC producers were performed to check for coexistence of these enzymes. …”
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Targeting ATAD3A Phosphorylation Mediated by TBK1 Ameliorates Senescence‐Associated Pathologies by Yujiao He, Yanchen Liu, Mingyue Zheng, Yuxiu Zou, Mujie Huang, Linsheng Wang, Ge Gao, Zhongjun Zhou, Guoxiang Jin

“…TAT‐PEP treatment also ameliorates various phenotypes associated with physiological aging. Collectively, these results reveal the TBK1‐ATAD3A‐Pink1 axis as a driving force in cellular senescence and suggest a potential mitochondrial target for anti‐aging therapy.…”
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High Folic Acid Intake during Pregnancy Lowers Body Weight and Reduces Femoral Area and Strength in Female Rat Offspring by Pedro S. P. Huot, David W. Dodington, Rebecca C. Mollard, Sandra A. Reza-López, Diana Sánchez-Hernández, Clara E. Cho, Justin Kuk, Wendy E. Ward, G. Harvey Anderson

“…Rats fed gestational diets high in multivitamin or folate produce offspring of altered phenotypes. We hypothesized that female rat offspring born to dams fed a gestational diet high in folic acid (HFol) have compromised bone health and that feeding the offspring the same HFol diet attenuates these effects. …”
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Bacterial Multiresistance and Microbial Diversity of Milk Received by a University Hospital Milk Bank by Dayane da Silva Zanini, Benedito Donizete Menozzi, Wanderson Sirley Reis Teixeira, Felipe Fornazari, Gismelli Cristiane Angeluci, Raquel Cuba Gaspar, Lucas Franco Miranda Ribeiro, Carlos Eduardo Fidelis, Marcos Veiga dos Santos, Juliano Gonçalves Pereira, Helio Langoni

“…The microorganisms present in breast milk from a human milk bank were evaluated and the resistance of the isolates to antimicrobials was phenotypically characterized. In total, 184 microbial isolates were identified by mass spectrometry, of 12 bacterial genera and 1 yeast genus. …”
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Validation of Analytical Method for Aeromonas hydrophila Identification using Analytical Profile Index (API) 20E KIT Method by Diah Artati, Mohammad Oman, Supriyanto Supriyanto, Dede Sukarta, Adam Robisalmi

“…The high demand for fish consumption has an impact on increasing aquaculture productivity and causes the vulnerability of increasing bacterial populations in aquaculture fields, so more rapid handling is needed. The use of phenotypic KIT methods (API 20E) has been applied as a targeted and efficient identification support in targeting better bacterial identification accuracy but often provides unequal results. …”
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Genomic insights into pigeon breeding: GWAS for economic traits and the development of a high-throughput liquid phase array chip by Bo Zhang, Jianyuan Ma, Li Shen, Yipu Li, Shuxian Xie, Haoxuan Li, Jing Li, Xianyao Li, Zheng Wang

“…This study integrates phenotypic data from Tarim pigeons and White King pigeons with genomic information, using genome-wide association analysis (GWAS) to identify genetic markers associated with key economic traits, thereby accelerating the breeding process. …”
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The relationship between kidney disease and mitochondria: a bibliometric study by Jueyi Mao, Cuifang Li, Feifeng Wu, Yang Wang, Junquan Zhu, Chuan Wen

“…The co-occurrence network identified three clusters related to the association between mitochondria and kidney disease, including experimental methods, research mechanisms, and disease phenotypes. We found that research in this field has shifted from disease-level studies to mechanism-based studies, with the most prominent disease being diabetic nephropathy and the most prominent pathogenic mechanism being related to mitochondrial ROS production.Conclusion The bibliometric analysis provided a comprehensive understanding of the progress of research on the role of mitochondria in kidney disease, enriching the review literature in this field.…”
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Human Adipose-Derived Mesenchymal Stem Cells Cryopreservation and Thawing Decrease α4-Integrin Expression by Ana Carolina Irioda, Rafael Cassilha, Larissa Zocche, Julio Cesar Francisco, Ricardo Correa Cunha, Priscila Elias Ferreira, Luiz Cesar Guarita-Souza, Reginaldo Justino Ferreira, Bassam Felipe Mogharbel, Venkata Naga Srikanth Garikipati, Daiany Souza, Mirian Perlingeiro Beltrame, Katherine Athayde Teixeira de Carvalho

“…The aim of this study was to analyze human adipose tissue-derived mesenchymal stem cells phenotypic expression (CD34, CD45, CD73, CD90, CD105, and CD49d), colony forming unit ability, viability, and differentiation potential before and after cryopreservation. …”
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

“…Our data suggest that PDE12 regulates mitochondrial RNA processing and its loss results in neurological and muscular phenotypes.…”
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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region by Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

“…Conclusion: This study identified novel candidate disease genes and inheritance model that could explain the underlying phenotypes that could open the doors for a better-guided genomic approach for personalized treatment and early diagnosis. …”
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Transfer of dysbiotic gut microbiota has beneficial effects on host liver metabolism by Simon Nicolas, Vincent Blasco‐Baque, Audren Fournel, Jerome Gilleron, Pascale Klopp, Aurelie Waget, Franck Ceppo, Alysson Marlin, Roshan Padmanabhan, Jason S Iacovoni, François Tercé, Patrice D Cani, Jean‐François Tanti, Remy Burcelin, Claude Knauf, Mireille Cormont, Matteo Serino

“…We found that transferring obese‐mouse gut microbiota to mice on normal chow (NC) acutely reduces markers of hepatic gluconeogenesis with decreased hepatic PEPCK activity, compared to non‐inoculated mice, a phenotypic trait blunted in conventional NOD2 KO mice. …”
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Case Study of Somaclonal Variation in Resistance Genes Mlo and Pme3 in Flaxseed (Linum usitatissimum L.) Induced by Nanoparticles by Inese Kokina, Ilona Mickeviča, Marija Jermaļonoka, Linda Bankovska, Vjačeslavs Gerbreders, Andrejs Ogurcovs, Inese Jahundoviča

“…Somaclonal variation describes the tissue-culture-induced phenotypic and genotypic variations. This paper shows the results of somaclonal variation in two resistance genes pectin methylesterase and Mlo-like protein in all tissue culture development stages, as donor plant, calluses, and regenerants of Linum usitatissimum induced by gold and silver nanoparticles. …”
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