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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.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
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 ...
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 ...
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates ) into others ( products ).
There are two major theories about how sIBM is caused. One hypothesis suggests that the inflammation-immune reaction, caused by an unknown trigger – likely an undiscovered virus or an autoimmune disorder – is the primary cause of sIBM and that the degeneration of muscle fibers and protein abnormalities are secondary features. [19]
It can be caused by autosomal dominant inheritance of the ELANE gene, autosomal recessive inheritance of the HAX1 gene. There is an increased risk of leukemia and myelodysplastic cancers. Most cases of SCN respond to treatment with granulocyte colony-stimulating factor ( filgrastim ), which increases the neutrophil count and decreases the ...
Inflammatory demyelinating diseases (IDDs), sometimes called Idiopathic (IIDDs) due to the unknown etiology of some of them, are a heterogenous group of demyelinating diseases - conditions that cause damage to myelin, the protective sheath of nerve fibers - that occur against the background of an acute or chronic inflammatory process.