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Histamine N-methyltransferase is encoded by a single gene, called HNMT, which has been mapped to chromosome 2 in humans. [5]Three transcript variants have been identified for this gene in humans, which produce different protein isoforms [6] [5] due to alternative splicing, which allows a single gene to code for multiple proteins by including or excluding particular exons of a gene in the final ...
The modification may also occur at other sites, [4] but methylation at either of these sites can repress gene expression by either interfering with the binding of transcription factors or modifying chromatin structure to a repressive state. [5] Disease condition studies have largely fueled the effort in understanding the role of DNA methylation.
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]
Methylation, as well as other epigenetic modifications, affects transcription, gene stability, and parental imprinting. [2] It directly impacts chromatin structure and can modulate gene transcription, or even completely silence or activate genes, without mutation to the gene itself.
Urinary tract infection in pediatric patients is a significant clinical issue, affecting approximately 7% of fevered infants and children. [43] If left untreated, the infection can ascend from the bladder to the kidneys, resulting in acute pyelonephritis, which leads to hypertension, kidney scarring, and end-stage kidney disease. [44]
One subtype of HNPCC, the Muir-Torre Syndrome (MTS), is associated with skin tumors. If both inherited copies (alleles) of a MMR gene bear damaging genetic variants, this results in a very rare and severe condition: the mismatch repair cancer syndrome (or constitutional mismatch repair deficiency, CMMR-D), manifesting as multiple occurrences of ...