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Article

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

The Biochemical journal - 15 Jul 2022

Button Emily L, Rossi Joseph J, McDougal Daniel P, Bruning John B, Peet Daniel J, Bersten David C, Rosenfeld Jill A, Whitelaw Murray L

Abstract excerpt

Single-minded 2 (SIM2) is a neuron-enriched basic Helix-Loop-Helix/PER-ARNT-SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2 may play a role in brain development and function. During the screening of a clinical exome sequencing database, nine SIM2 non-synonymous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35730699
DOI: 10.1042/BCJ20220209
PMCID: PMC9342896

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