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These are transcribed in the nucleolus by RNA polymerase I. 45S is processed in the nucleus via 32S rRNA to 28S [6] and 5.8S, [7] and via 30S to 18S, [8] as shown in the diagram. 18S is a component of the ribosomal 40S subunit. 28S, 5.8S and 5S, [9] which is transcribed independently, are components
Pages in category "Nucleus diseases" The following 6 pages are in this category, out of 6 total. This list may not reflect recent changes. C. Cornelia de Lange ...
The protein may lose its function, which can result in a disease in the organism. For example, sickle-cell disease is caused by a single point mutation (a missense mutation) in the beta- hemoglobin gene that converts a GAG codon into GUG, which encodes the amino acid valine rather than glutamic acid .
DNA repair defects are seen in nearly all of the diseases described as accelerated aging disease, in which various tissues, organs or systems of the human body age prematurely. Because the accelerated aging diseases display different aspects of aging, but never every aspect, they are often called segmental progerias by biogerontologists .
Cajal bodies (CBs), also coiled bodies, are spherical nuclear bodies of 0.3–1.0 μm in diameter found in the nucleus of proliferative cells like embryonic cells and tumor cells, or metabolically active cells like neurons. CBs are membrane-less organelles and largely consist of proteins and RNA.
Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. [1]
The perinucleolar compartment was first discovered on the periphery of the nucleus in 1992 by Andrea Getti et al. while studying the hnRNPI/PTB (polypyrimidine tract binding) protein. [2] Getti found that in addition to the nucleoplasm, the hnRNPI was staining a “discrete unidentified structure” always opposite of the nucleoli.
The non-polyQ diseases or non-coding trinucleotide repeat disorders do not share any specific symptoms and are unlike the PolyQ diseases. In some of these diseases, such as Fragile X syndrome, the pathology is caused by lack of the normal function of the protein encoded by the affected gene.