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iPSC-based merlin-deficient Schwann cell-like spheroids as an in vitro system for studying NF2 pathogenesis
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作者 Núria Catasús Gemma Casals-Sendra +12 位作者 Miguel Torres-Martin Inma Rosas Bernd Kuebler Helena Mazuelas Emilio Amilibia Begoña Aran Anna Veiga Ángel Raya Bernat Gel Ignacio Blanco Eduard Serra Meritxell Carrió Elisabeth Castellanos 《Genes & Diseases》 2025年第6期101-104,共4页
Neurofibromin 2(NF2)-related schwannomatosis(NF2-SWN)is an autosomal-dominant tumor predisposition syndrome.NF2-SWN patients develop multiple benign tumors of the nervous system,such as schwannomas,particularly bilate... Neurofibromin 2(NF2)-related schwannomatosis(NF2-SWN)is an autosomal-dominant tumor predisposition syndrome.NF2-SWN patients develop multiple benign tumors of the nervous system,such as schwannomas,particularly bilateral vestibular schwannomas,without current effective treatments.1 These tumors are caused by the bi-allelic inactivation of the NF2 gene,which encodes for merlin protein,in a cell of the Schwann cell(SC)lineage. 展开更多
关键词 bilateral vestibular schwannomaswithout vitro system NF swn schwannomatosis NF pathogenesis Merlin deficient Schwann cell spheroids merlin proteinin
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