Altered Gene Expression, Mitochondrial Damage and Oxidative Stress: Converging Routes in Motor Neuron Degeneration by Luisa Rossi, Cristiana Valle, Maria Teresa Carrì

“…This is particularly well demonstrated in ALS, where both sporadic and familial forms share the same symptoms and pathological phenotype, with a prominent role for mitochondrial damage and resulting oxidative stress. …”
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How the BRAF V600E Mutation Defines a Distinct Subgroup of Colorectal Cancer: Molecular and Clinical Implications by Catherine E. Bond, Vicki L. J. Whitehall

“…A proportion of the BRAF mutant lesions remain as microsatellite stable (MSS), and in contrast to the MSI cancers, they have an aggressive phenotype and correlate with poor patient outcomes. …”
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Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults by Marco Nezzo, Pieter De Visschere, Guy T'Sjoen, Steven Weyers, Geert Villeirs

“…Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. …”
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Atypical Perinuclear Antineutrophil Cytoplasmic Antibodies in Patients with Crohn’s Disease by Hugh J Freeman

“…This study confirms that an 'ulcerative colitis-like' clinical phenotype may be seen in most, but not all, serologically positive Crohn's disease patients. …”
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45,X/47,XXX Mosaicism and Short Stature by Erica Everest, Laurie A. Tsilianidis, Anzar Haider, Douglas G. Rogers, Nouhad Raissouni, Bahareh Schweiger

“…It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. …”
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In vivo confocal microscopic study of cornea verticillata and limbus deposits in patients with Fabry disease by Xuecong Zhou, Yawen Zhao, Yingsi Li, Yujing Yuan, Xiaoming Yan, Wei Zhang, Yuan Wu

“…A higher prevalence of corneal epithelial deposits was observed in the classical phenotype as compared to the non-classical phenotype (p = 0.023). …”
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Differentially expressed transcript isoforms associate with resistance to tuberculin skin test and interferon gamma release assay conversion. by Jason D Simmons, R Max Segnitz, Kimberly A Dill-McFarland, Catherine M Stein, Glenna J Peterson, Harriet Mayanja-Kizza, W Henry Boom, Thomas R Hawn

“…<h4>Results</h4>We identified 81 differentially expressed transcripts (DETs) in 70 genes (FDR <0.05) comparing RSTR and LTBI phenotypes with the majority (n = 79 DETs) identified under Mtb-stimulated conditions. …”
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Role of Cholinergic Anti-Inflammatory Pathway in Protecting Sepsis-Induced Acute Lung Injury through Regulation of the Conventional Dendritic Cells by Ruiting Li, Xuemei Hu, Huibin Chen, Yue Zhao, Xuehui Gao, Yin Yuan, Huiling Guo, Haiyan Huang, Xiaojing Zou, Hong Qi, Hong Liu, You Shang

“…It was hypothesized that cholinergic anti-inflammatory pathway may inhibit the inflammatory response of ALI by regulating maturation, phenotype, and quantity of DCs and conventional DCs. …”
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M2 Macrophages as a Potential Target for Antiatherosclerosis Treatment by Ying Bi, Jixiang Chen, Feng Hu, Jing Liu, Man Li, Lei Zhao

“…Therefore, modulators targeting macrophages’ polarization to the M2 phenotype could be another promising treatment strategy for atherosclerosis. …”
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Environmental selection underlies distinct distribution patterns of closely related European evening primroses by Monika Woźniak-Chodacka, Maciej Kocurek, Maria Pilarska, Ewa Niewiadomska

“…Oenothera biennis, with the widest distribution, exhibits an intermediate phenotype, suggesting high plasticity and adaptability of its photosynthetic apparatus. …”
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EGFR Amplification and Glioblastoma Stem-Like Cells by Katrin Liffers, Katrin Lamszus, Alexander Schulte

“…Glioblastoma (GBM), the most common malignant brain tumor in adults, contains a subpopulation of cells with a stem-like phenotype (GS-cells). GS-cells can be maintained in vitro using serum-free medium supplemented with epidermal growth factor, basic fibroblast growth factor-2, and heparin. …”
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WEAKLY POSITIVE RH FACTOR, DIAGNOSED FOR THE FIRST TIME IN A WOMAN DURING PREGNANCY (CLINICAL CASE) by Юлия Сергеевна Фролова, Екатерина Владимировна Грищенко, Светлана Ивановна Елгина, Елена Владимировна Рудаева, Кира Борисовна Мозес

“…The weakly positive Rh factor (Du phenotype) was described by physician and researcher Frederick Stratton in 1946 as a new variant of the antigen that reacts weakly with anti-D identifying sera. …”
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Human Liver-Derived Stem Cells Improve Fibrosis and Inflammation Associated with Nonalcoholic Steatohepatitis by Stefania Bruno, Maria Beatriz Herrera Sanchez, Chiara Pasquino, Marta Tapparo, Massimo Cedrino, Ciro Tetta, Giovanni Camussi

“…HLSCs share with mesenchymal stromal cells the same phenotype, gene expression profile, and differentiation capabilities. …”
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Multi-block Analysis of Genomic Data Using Generalized Canonical Correlation Analysis by Inyoung Jun, Wooree Choi, Mira Park

“…In this paper, we will use generalized canonical correlation methodology to analyze multi-block data from the Korean Association Resource project, which has a combination of single nucleotide polymorphism blocks, phenotype blocks, and disease blocks.…”
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Nephrological problems in a child with Aicardi-Goutières syndrome by Małgorzata Piejak, Zuzanna Hus, Adam Bujanowicz, Piotr Skrzypczyk, Joanna Samotyjek, Beata Jurkiewicz, Hanna Szymanik-Grzelak, Mariusz I. Furmanek, Małgorzata Pańczyk-Tomaszewska

“…To date, urinary tract abnormalities have not been described as a part of the AGS phenotype.…”
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Respiratory pathology in the mdx/utrn -/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD). by Marán Y Hernández Rodríguez, Debolina D Biswas, Aoife D Slyne, Jane Lee, Evelyn Scarrow, Sarra M Abdelbarr, Heather Daniels, Ken D O'Halloran, Leonardo F Ferreira, Charles A Gersbach, Mai K ElMallah

“…The most studied DMD mouse model- the mdx mouse- has a milder respiratory phenotype compared to humans, likely due to compensatory overexpression of utrophin. mdx/utrn-/- mice lack both dystrophin and utrophin proteins. …”
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Optimization of Storage Temperature for Cultured ARPE-19 Cells by Lara Pasovic, Tor Paaske Utheim, Rima Maria, Torstein Lyberg, Edward B. Messelt, Peder Aabel, Dong Feng Chen, Xiangjun Chen, Jon Roger Eidet

“…Viability and phenotype were assessed by a microplate fluorometer and epifluorescence microscopy, while morphology was analyzed by scanning electron microscopy. …”
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A multi-trait approach identified 7 novel genes for back pain by Nadezhda M. Belonogova, Elizaveta E. Elgaeva, Irina V. Zorkoltseva, Anatoliy V. Kirichenko, Gulnara R. Svishcheva, Maxim B. Freidin, Frances M. K. Williams, Pradeep Suri, Tatiana I. Axenovich, Yakov A. Tsepilov

“…We applied a powerful multi-trait and gene-based approach to association analysis of BP to identify novel genes associated with BP. Methods:. Using phenotypes and imputed genotypes from the UK Biobank 500k dataset, we generated a multi-trait phenotype by combining 3 BP-related phenotypes: chronic BP, dorsalgia, and intervertebral disk disorders. …”
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Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes by Yukiko Kikuchi, Mohammed Uddin, Joris A. Veltman, Sara Wells, Christopher Morris, Marc Woodbury-Smith

“…Limitations The lack of behavioural phenotypes among the macaques whose genotypes were studied means that we are unable to further investigate whether genetic variants have similar phenotypic consequences among nonhuman primates. …”
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HisCoM-GGI: Software for Hierarchical Structural Component Analysis of Gene-Gene Interactions by Sungkyoung Choi, Sungyoung Lee, Taesung Park

“…Many previous studies have already proposed software to analyze GGI, but most methods focus on a binary phenotype in a case-control design. In this study, we developed “Hierarchical structural CoMponent analysis of Gene-Gene Interactions” (HisCoM-GGI) software for GGI analysis with a continuous phenotype. …”
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