Showing 501 - 520 results of 3,155 for search '"phenotype"', query time: 0.08s Refine Results
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    Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia by Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

    Published 2025-01-01
    “…In this study, we characterized the clinical, biochemical, and functional impact of biallelic SLC13A1 nonsense and/or missense variants in individuals presenting with a skeletal phenotype. Methods: Probands were identified by exome or genome sequencing and GeneMatcher. …”
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    TGFβ-specific T cells induced by a TGFβ-derived immune modulatory vaccine both directly and indirectly modulate the phenotype of tumor-associated macrophages and fibroblasts by Mads Hald Andersen, Inés Lecoq, Evelina Martinenaite, Maria Perez-Penco, Lucia Lara de la Torre

    Published 2024-02-01
    “…TAMs tend to have tumor-promoting functions, harbor an immunosuppressive phenotype and are linked to decreased overall survival in pancreatic cancer when they harbor an M2-like phenotype. …”
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    HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype by Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec

    Published 2009-01-01
    “…Phenotypic expression of the common p.C282Y/p.C282Y HFE-related hemochromatosis genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. …”
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    Correlates of and Body Composition Measures Associated with Metabolically Healthy Obesity Phenotype in Hispanic/Latino Women and Men: The Hispanic Community Health Study/Study of Latinos (HCHS/SOL) by Mayra L. Estrella, Amber Pirzada, Ramon A. Durazo-Arvizu, Jianwen Cai, Aida L. Giachello, Rebeca Espinoza Gacinto, Anna Maria Siega-Riz, Martha L. Daviglus

    Published 2019-01-01
    “…Individuals with “metabolically healthy obesity” (MHO) phenotype (i.e., obesity and absence of cardiometabolic abnormalities: favorable levels of blood pressure, lipids, and glucose) experience lower risk of cardiovascular disease compared with those with “metabolically at-risk obesity” (MAO) phenotype (i.e., obesity with concurrent cardiometabolic abnormalities). …”
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