From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia by Mónica Fernandes Pineda, Andrés F. Zea-Vera

“…To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia. …”
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A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency by N. H. Birkebæk, J. S. Sørensen, J. Vikre-Jørgensen, P. K. A. Jensen, O. Pedersen, T. Hansen

“…We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. …”
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Connecting electronic health records to a biomedical knowledge graph to link clinical phenotypes and molecular endotypes in atopic dermatitis by Francesca Frau, Paul Loustalot, Margaux Törnqvist, Nina Temam, Jean Cupe, Martin Montmerle, Franck Augé

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Development of a Functional Schwann Cell Phenotype from Autologous Porcine Bone Marrow Mononuclear Cells for Nerve Repair by Michael J. Rutten, Michael Ann Janes, Ivy R. Chang, Cynthia R. Gregory, Kenton W. Gregory

“…However, many methods of producing Schwann-like cells can be laborious with the cells lacking a functional phenotype. The objective of this study was to develop a simple and rapid method using autologous BM-MNCs to produce a phenotypic and functional Schwann-like cell. …”
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Integrating phylogeographic and phenotypic evidence to delimit deep evolutionary lineages in the Dryophytes japonicus species complex, with an assessment of their conservation needs by Amaël Borzée, Yikweon Jang, Siti N. Othman, Jordy Groffen, Irina V. Maslova, Zoljargal Purevdorj, Kiyomi Yasumiba, Tomohiko Shimada, Yoonjung Yi, Natalya Alekseevna Schepina, Desiree Andersen, Yoonhyuk Bae, Ikuo Miura, Christophe Dufresnes

“…Earlier studies on the northeast Asian treefrog, Dryophytes japonicus, identified a deep Mio-Pliocene diversification; however, phenotypic assessments were lacking, and the taxonomic identity of the identified clades is under debate. …”
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Brain Hemodynamic Intermediate Phenotype Links Vitamin B12 to Cognitive Profile of Healthy and Mild Cognitive Impaired Subjects by Luca Cecchetti, Giada Lettieri, Giacomo Handjaras, Andrea Leo, Emiliano Ricciardi, Pietro Pietrini, Silvia Pellegrini, The Train the Brain Consortium

“…We then evaluated whether task-related brain responses represent an intermediate phenotype, providing a better prediction of subjects’ neuropsychological scores, as compared to the one obtained considering blood biochemistry only. …”
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Prognostic models of immune-related cell death and stress unveil mechanisms driving macrophage phenotypic evolution in colorectal cancer by Hao Liu, Chuhan Zhang, Sanfei Peng, Yuhan Yin, Yishi Xu, Sihan Wu, Liping Wang, Yang Fu

“…Pseudotime analysis and cellular experiments indicated that the model gene GAL3ST4 promotes the transition of macrophages toward an M2 pro-tumor phenotype. Furthermore, cell communication analysis and experimental validation revealed that the cuproptosis in tumor cells suppress GAL3ST4 expression, thereby inhibiting M2-like macrophage polarization. …”
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Metabolic Phenotyping of Adipose-Derived Stem Cells Reveals a Unique Signature and Intrinsic Differences between Fat Pads by Camille Lefevre, Baptiste Panthu, Danielle Naville, Sylvie Guibert, Claudie Pinteur, Bénédicte Elena-Herrmann, Hubert Vidal, Gilles J. P. Rautureau, Anne Mey

“…In this study, we performed high-resolution nuclear magnetic resonance (NMR) metabolomic analyses of ASC culture supernatants in order to characterize their metabolic phenotype in culture. We identified and quantified 29 ASC exometabolites and evaluated their consumption or secretion over 72 h of cell culture. …”
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Serological Detection of Rh-Del Phenotype among Rh-Negative Blood Donors at National Blood Center, Yangon, Myanmar by Saw Thu Wah, Saung Nay Chi, Kyi Kyi Kyaing, Aye Aye Khin, Thida Aung

“…Of 202 blood donors (167 true Rh-negative and 35 Rh-Del), all of the Rh-Del positives were C-antigen-positive with 94.3% Ccee phenotype (33/35) and 5.7% CCee (2/35). Most of the Rh-negative donors (80.2%) were ccee phenotype (134/167). …”
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Protocol for Rhapsody: a longitudinal observational study examining the feasibility of speech phenotyping for remote assessment of neurodegenerative and psychiatric disorders by Allan H Young, Rebecca Strawbridge, Ammar Al-Chalabi, Dag Aarsland, Aleksandra Podlewska, Ray Chaudhuri, Elliot Hampsey, Marton Meszaros, Caroline Skirrow, Rosie H Taylor, Lazarus Chok, Jack Weston, Emil Fristed, Olabisi Awogbemila

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Correction: CD2AP deficiency aggravates Alzheimer’s disease phenotypes and pathology through p38 MAPK activation by Yan-Yan Xue, Zhe-Sheng Zhang, Rong-Rong Lin, Hui-Fen Huang, Ke-Qing Zhu, Dian-Fu Chen, Zhi-Ying Wu, Qing-Qing Tao

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Whole transcriptome analysis of unmutated sporadic ALS patients' peripheral blood reveals phenotype-specific gene expression signature by Francesca Dragoni, Maria Garofalo, Rosalinda Di Gerlando, Bartolo Rizzo, Matteo Bordoni, Eveljn Scarian, Camilla Viola, Veronica Bettoni, Giuseppe Fiamingo, Danilo Tornabene, Lucia Scanu, Orietta Pansarasa, Luca Diamanti, Stella Gagliardi

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Phenotypic Analysis of BrdU Label-Retaining Cells during the Maturation of Conducting Airway Epithelium in a Porcine Lung by Yuanyuan Jia, Xuehong You, Ningxia Ma, Hui Li, Guopan Liu, Ying Wang, Jing Xue, Juan Shi, Jun Wei, Yong Li, Jiali Yang, Xiaoming Liu

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Efficacy and retention rate of secukinumab in psoriatic arthritis across different clinical phenotypes: insights from the Italian GISEA Registry by Giuseppe Lopalco, Maria Morrone, Fabiola Atzeni, Chiara Bazzani, Francesco Paolo Bianchi, Francesco Paolo Cantatore, Roberto Caporali, Antonio Carletto, Alberto Cauli, Maria Sole Chimenti, Sergio Colella, Fabrizio Conti, Addolorata Corrado, Ennio Giulio Favalli, Alberto Floris, Marco Fornaro, Rosario Foti, Roberta Foti, Elena Fracassi, Bruno Frediani, Stefano Gentileschi, Roberto Gorla, Elisa Gremese, Emanuela Praino, Roberta Ramonda, Cinzia Rotondo, Marco Sebastiani, Angelo Semeraro, Gianfranco Ferraccioli, Giovanni Lapadula, Florenzo Iannone

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Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype by Robert B. Hinton

“…Bicuspid aortic valve (BAV) and thoracic aortic aneurysm (TAA) are two discrete cardiovascular phenotypes characterized by latent progressive disease states. …”
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Phenotypes of Non-Alcoholic Fatty Liver Disease in Different Regions of the Russian Federation, Diagnostic and Therapeutic Approach in Clinical Practice by V. T. Ivashkin, M. S. Zharkova, N. V. Korochanskaya, I. B. Khlynov, Yu. P. Uspensky

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Correlation Analysis Between Multi-Drug Resistance Phenotype and Virulence Factor Expression of Clinical <i>Pseudomonas aeruginosa</i> by Wenli Xu, Runcheng Zhou, Jingwei Pan, Zhuangcong Liu, Xuyu Huang, Yueqiao Lin, Nan Li, Kecan Chen, Wenbo Sun, Yi Deng, Anping Yang, Xin Chen

“…High-drug-resistance and high-virulence phenotypes are two distinctive features of the strong pathogenicity of multi-drug-resistant PA. …”
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Tomato Stem and Leaf Segmentation and Phenotype Parameter Extraction Based on Improved Red Billed Blue Magpie Optimization Algorithm by Lina Zhang, Ziyi Huang, Zhiyin Yang, Bo Yang, Shengpeng Yu, Shuai Zhao, Xingrui Zhang, Xinying Li, Han Yang, Yixing Lin, Helong Yu

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Hypertriglyceridemia and hypertension-altered abdominal girdle phenotypes and their association with cardiovascular risk factors in women seen at the Provincial Climacteric Consultation by Elodia María Rivas Álpizar, Karen Lizeth García, Annia Quintana Marrero

“…<p><strong>Background:</strong> the presence of hypertension-increased abdominal circumference phenotypes is considered a cardiometabolic deterioration prognostic index.…”
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Inflamed immune phenotype predicts favorable clinical outcomes of immune checkpoint inhibitor therapy across multiple cancer types by Jeanne Shen, Sergio Pereira, Chan-Young Ock, Yung-Jue Bang, Seulki Kim, Sehhoon Park, Se-Hoon Lee, George A Fisher, Young Kwang Chae, Yoon-La Choi, Jin-Haeng Chung, Tony S K Mok, Leeseul Kim, Jun-Eul Hwang, Gahee Park, Sanghoon Song, Seunghwan Shin, Yoojoo Lim, Wonkyung Jung, Heon Song, Hyojin Kim, Taebum Lee, Sukjun Kim, Chang Ho Ahn, Seokhwi Kim, Ben W Dulken, Stephanie Bogdan, Maggie Huang, Chiyoon Oum, Siraj M. Ali

“…Here, we investigate artificial intelligence (AI)-based immune phenotypes capable of predicting ICI clinical outcomes in multiple solid tumor types.Methods Lunit SCOPE IO is a deep learning model which determines the immune phenotype of the tumor microenvironment based on TIL analysis. …”
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