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Transcriptional repressor CTCF also known as 11-zinc finger protein or CCCTC-binding factor is a transcription factor that in humans is encoded by the CTCF gene. [ 5 ] [ 6 ] CTCF is involved in many cellular processes, including transcriptional regulation , insulator activity, V(D)J recombination [ 7 ] and regulation of chromatin architecture.
CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. Transcriptional repressor CTCFL (this protein) is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and CTCFL are normally expressed in a ...
Mayo Clinic Proceedings is a monthly peer-reviewed medical journal published by Elsevier and sponsored by the Mayo Clinic. It covers the field of general internal medicine. The journal was established in 1926 as the Proceedings of the Staff Meetings of the Mayo Clinic and obtained its current name in 1964.
It is the first described disorder of creatine metabolism, [2] and results from deficient activity of guanidinoacetate methyltransferase, an enzyme involved in the synthesis of creatine. [3] Clinically, affected individuals most commonly present with developmental delay, behavior disorder, and seizures . [ 4 ]
Thus, the loop can become smaller or larger. The loop extrusion process stops when cohesin encounters the architectural chromatin protein CTCF. The CTCF site needs to be in a proper orientation to stop cohesin. [31] [32] [33] Accumulation at promoters: Two hypotheses were proposed to explain accumulation of cohesin at the gene promoters: [34] [35]
The gene therapy will compete with Australia-based CSL Behring’s Hemgenix, a similar treatment that won FDA approval for hemophilia B in 2022. That drug has a similar list price of $3.5 million ...