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    Analysing the Functional and Structural Impact of Single Nucleotide Polymorphisms in Matrix Metalloproteinase 3 Gene: An In-silico Approach by Rejitha Ramachandran, Saritha C joseph, kc Sajeevan, Shajee S Nair

    Published 2024-11-01
    “…Introduction: Matrix Metalloproteinase 3 (MMP3) is a vital member of the MMP family, known for its wide range of substrate specificity and proteolytic activity against Extracellular Matrix (ECM) components. The role of functional polymorphisms in the MMP genes has been previously investigated in relation to cancer susceptibility, particularly breast cancer. …”
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    SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications by Yoko Kobayashi Takahashi, Kenshiro Tabata, Shimpei Baba, Eri Takeshita, Noriko Sumitomo, Yuko Shimizu‐Motohashi, Takashi Saito, Eiji Nakagawa, Atsushi Ishii, Shinichi Hirose, Mitsuhiro Kato, Naomichi Matsumoto, Hirofumi Komaki, Ken Inoue

    Published 2025-08-01
    “…We retrospectively analyzed 37 individuals with SCN1A pathogenic variants at our institute between January 2012 and October 2024 to investigate phenotype–function correlations. …”
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