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The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP).
Sci Rep. 2024 Mar 29;14(1):7472. doi: 10.1038/s41598-024-58255-9.
Sci Rep. 2024.
PMID: 38553547
Free PMC article.
A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Martín M, Modenutti CP, Gil Rosas ML, Peyret V, Geysels RC, Bernal Barquero CE, Sobrero G, Muñoz L, Signorino M, Testa G, Miras MB, Masini-Repiso AM, Calcaterra NB, Coux G, Carrasco N, Martí MA, Nicola JP.
Martín M, et al. Among authors: gil rosas ml.
J Clin Endocrinol Metab. 2021 Jun 16;106(7):1867-1881. doi: 10.1210/clinem/dgab283.
J Clin Endocrinol Metab. 2021.
PMID: 33912899
Free PMC article.
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