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Article

The human SMAD9 (GCC) repeat links to natural selection and late-onset neurocognitive disorders.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2024

Alizadeh Samira, Khamse Safoura, Vafadar Sara, Bernhart Stephan H, Afshar Hossein, Vahedi Mohsen, Rezaei Omid, Delbari Ahmad, Ohadi Mina

Abstract excerpt

INTRODUCTION: Whereas (GCC)-repeats are overrepresented in genic regions, and mutation hotspots, they are largely unexplored with regard to their link with natural selection. Across numerous primate species and tissues, SMAD9 (SMAD Family Member 9) reaches highest level of expression in the human brain. This gene contains a (GCC)-repeat in the interval between + 1 and + 60 of the transcription start site, which...

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PMID: 38877206
DOI: 10.1007/s10072-024-07637-y

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