Clinical Theory and Skills EMIs
Michael Reilly, Bangaru Raju in Extended Matching Items for the MRCPsych Part 1, 2018
Chromosome 2.Chromosome 6.Chromosome 9.Cognitive impairment.Generalised anxiety disorder.Major depressive episode.Manic episode.Rapidly progressive dementia.Sensorimotor impairment.Slowly progressive dementia.
Genetic disorders, skeletal dysplasias and malformations
Ashley W. Blom, David Warwick, Michael R. Whitehouse in Apley and Solomon’s System of Orthopaedics and Trauma, 2017
The full genetic make-up of an individual is called the genotype. The finished person – a product of inherited traits and environmental influences – is the phenotype. An important part of the unique human genotype is the major histocompatibility complex (MHC), also known as the HLA system (after human leucocyte antigen). This is a cluster of genes on chromosome 6 that is responsible for immunological specificity. The proteins for which they code are attached to cell surfaces and act as ‘chaperones’ for foreign antigens which have to be accompanied by HLA before they are recognized and engaged by the body’s T-cells. HLA proteins can be identified by serological tests and are registered according to their corresponding genetic loci on the short arm of chromosome 6. HLA typing is particularly important in tissue transplantation: acceptance or rejection of the transplant hinges on the degree of matching between the HLA genes of donor and recipient.
The Mouse Skin as a Model for Chemical Carcinogenesis
John P. Sundberg in Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
The molecular events related to the trisome of Chromosome 6 are poorly understood. No specific gene(s) has been identified that may be related to changes of this chromosome. However, recent results suggest that this chromosome may also harbor a tumor suppressor gene. This hypothesis is based in two independent pieces of evidence. Recent unpublished results seem to indicate that Chromosome 6 is a frequent target of allelic losses, usually a strong indication of the presence of a tumor suppressor gene in the region. The second piece of evidence is the recent identification by our laboratory of a region of human Chromosome 7 with close homology to murine Chromosome 6 that can suppress tumorigenicity of a murine carcinoma cell line. If confirmed, these results point to a possible correlation between trisomy and loss of heterozygosity by mitotic recombination by a still undetermined mechanism.
Identifying Similarities and Disparities Between DNA Copy Number Changes in Cancer and Matched Blood Samples
Published in Cancer Investigation, 2019
Nezamoddin N. Kachouie, Wejdan Deebani, David C. Christiani
Table 5 shows the number of locations in each chromosome with corresponding MIC values below the specified threshold ofChromosome 8 has the highest number of locations (62) with MIC values below the lower threshold. Chromosome 4 with 57 locations is the second, and chromosome 6 is the third with 54 locations with MIC values below the threshold. Figures 1(d,f), and 2(b) demonstrate the MIC values for these locations in chromosomes 4, 6, and 8. In contrast as shown in Figures 3(c,e) and 4(a,d), there are only a few locations with MIC values below threshold in chromosomes 15, 17, 19, and 22. It means there are fewer locations in these chromosomes that can be used to differentiate cancer from blood (non-involved) sample. Top five locations with regard to dissimilarities between cancer and blood, i.e., the locations in each chromosome with the smallest MIC values (below 0.17) are listed in ascending order in Table 6. These locations indicate low or very weak similarity between cancer and non-involved (blood) and can potentially be used for lung cancer diagnosis. Top five locations in chromosome 8 (with the highest number of such locations) are at 123.84, 41.17, 96.86, 83.97, and 78.06.
Targeting platelet inhibition receptors for novel therapies: PECAM-1 and G6b-B
Published in Platelets, 2021
Eva M Soriano Jerez, Jonathan M Gibbins, Craig E Hughes
In the human genome Mpig6b gene is located on chromosome 6 and composed of 6 exons which encode a 26 kDa protein comprised of 241 amino acids [60]. G6b-B is also a member of the immunoglobulin superfamily and is expressed as several splice-variants [60]. G6b-A and B contain transmembrane regions while the remaining three (C, D, E) are secreted isoforms [60]. G6b-B is the only family member that contains a transmembrane region, along with a cytoplasmic region containing the ITIM and an ITSM, and therefore the only isoform capable of intracellular signaling. The G6b-B ITIM/ITSM is constitutively phosphorylated by SFKs on residues that act as docking sites for the SH2 domains of the cytoplasmic protein tyrosine phosphatases SHP-1 and SHP-2 [17,60,61]. This leads to their activation, and the subsequent deactivation of tyrosine kinases such as Syk and of downstream signaling pathways.
An unexpected cause of liver cirrhosis and cardiomyopathy in a young man
Published in Acta Clinica Belgica, 2018
Ruben Pauwels, Els Vandecasteele, Daniel Devos, Walter Pauwels, Michel De Pauw
Iron is an essential element for the cell metabolism and for the function of many cellular enzymes. Impaired regulation of iron absorption leads to iron overload, causing formation of highly reactive free oxygen radicals and subsequently cellular oxidative damage [1]. Hereditary hemochromatosis (HH) consists of a group of five autosomal dominant or recessive inherited disorders related to iron deposition in tissues [2]. The most common form of HH is type 1, which presents in middle-aged people, predominantly affecting the heart, the liver, and the endocrine glands. This disease entity is most frequently associated with homozygosity for the C282Y or H63D missense mutation in the HFE gene, which is located on chromosome 6 [3]. Juvenile hemochromatosis (JH) or type 2 is a rare but severe hereditary form of iron overload, presenting in the first to third decade of life. It is related to mutations in the hemojuvelin gene or hepcidin (HAMP) gene [2].
Related Knowledge Centers
- Chromosome 15
- DNA
- Major Histocompatibility Complex
- Chromosome
- Base Pair
- Cell
- Immune Response
- Organ Transplantation
- Leukocyte Antigen
- Beta-2 Microglobulin