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    Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome by Nina Žakelj, David Gosar, Špela Miroševič, Stephan J. Sanders, Alicia Ljungdahl, Sayeh Kohani, Shouhe Huang, Lok I Leong, Ying An, Miou-Jing Teo, Fiona Moultrie, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Leszek Lisowski, Andrea Perez-Iturralde, Jasna Oražem Mrak, Ho Yin Edwin Chan, Damjan Osredkar

    Published 2025-10-01
    “…Across the 127 included participants (mean age, 70 months; range, 7–242 months) from 20 countries, we identified 88 different variants of the CTNNB1 gene, 87 of which were predicted to lead to loss of CTNNB1 function. Functional assays demonstrated reduced Wnt signaling activity, including 11 variants that also exhibited a dominant-negative effect. …”
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  4. 44

    Some Characterizations of the Cobb-Douglas and CES Production Functions in Microeconomics by Xiaoshu Wang, Yu Fu

    Published 2013-01-01
    “…Vîlcu, 2011 extended this result to the case of CES production function. Both results establish an interesting link between some fundamental notions in the theory of production functions and the differential geometry of hypersurfaces in Euclidean spaces. …”
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    Characterization and Functionality of Immidazolium Ionic Liquids Modified Magnetic Nanoparticles by Ying Li, Ning Tang, Fuyuhiko Inagaki, Chisato Mukai, Kazuichi Hayakawa

    Published 2013-01-01
    “…Functionality of MNPs with ionic liquids greatly influenced the solubility of the MNPs with organic solvents depending on the alkyl chain length and the anions of the ionic liquids. …”
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    Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants by Antje Banning, Lukas Hoeren, Isis Atallah, Ralph Orczyk, David Jacquier, Diana Ballhausen, Ritva Tikkanen

    Published 2025-07-01
    “…Our functional and structural assessments of these variants show that they cause a profound reduction in NGLY1 activity, severely reduced expression of NGLY1 protein, and misprocessing of the transcription factor NFE2L1. …”
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    Characterization of human pseudogene-derived non-coding RNAs for functional potential. by Xingyi Guo, Mingyan Lin, Shira Rockowitz, Herbert M Lachman, Deyou Zheng

    Published 2014-01-01
    “…Thousands of pseudogenes exist in the human genome and many are transcribed, but their functional potential remains elusive and understudied. …”
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