China
Africa
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Broad Ligament Fibroids
Published in Rooma Sinha, Arnold P. Advincula, Kurian Joseph, FIBROID UTERUS Surgical Challenges in Minimal Access Surgery, 2020
Fibroids are benign, monoclonal smooth muscle tumors of the myometrium and are aggregates of extracellular matrix containing collagen, elastin, proteoglycans, and fibronectins [1]. Forty percent are associated with chromosomal abnormalities like translocation of chromosome 12 and 14, deletion of chromosome 7, and trisomy of chromosome 12 [2, 3]. Although these are benign tumors, the incidence of sarcomas in fibroids is reported to be 0.29 to 0.05% of cases. Hence, diagnosis and proper management are necessities, especially in symptomatic and large fibroids.
Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The twitcher mouse has an autosomally recessively determined deficiency of galactosylceramide β-galactosidase and is an interesting model for Krabbe disease [65]. Other models have been found in West Highland and Cairn terriers, sheep, and monkeys. In the mouse the gene has been mapped to chromosome 12 [66].
Urological cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
Men with a first-degree relative having testicular cancer have an increased risk with a relative risk of 8–10 amongst siblings and 4–6 between father and son. Genetic changes in the region of the short arm of chromosome 12 are thought to be relevant to the development of testicular cancer.
Novel approach to identify putative Epstein–Barr–virus microRNAs regulating host cell genes with relevance in tumor biology and immunology
Published in OncoImmunology, 2022
Simon Jasinski-Bergner, Juliane Blümke, Marcus Bauer, Saskia Luise Skiebe, Ofer Mandelboim, Claudia Wickenhauser, Barbara Seliger
In total, the expression of 161 cancer-related genes was analyzed between healthy B cells and malignant transformed EBV-positive BL cells. Compared to healthy B cells, statistically significant or almost significant altered gene expression patterns with either upregulated (n = 48) or downregulated (n = 5) genes by the EBV-driven malignant transformation of BL cells were found and summarized in Table 3 including their genomic localization. The deregulated genes were randomly scattered over the human chromosomes, but most genes were located on chromosome 12 (n = 6), chromosome 9 (n = 5) and chromosome 10 (n = 5). These results might be of importance due to known genetic alterations on these chromosomes within tumor diseases in general, which will be addressed in more detail within the discussion section. None of the deregulated genes were located on the chromosomes 5, 7, 18 and Y.
Revisiting the complement system in systemic lupus erythematosus
Published in Expert Review of Clinical Immunology, 2020
Madhubala Sharma, Pandiarajan Vignesh, Karalanglin Tiewsoh, Amit Rawat
Genes that code for C1 s and C1 r are present on the short-arm of chromosome-12 in the tail to tail orientation at 3ʹend. C1 s and C1 r are paralogous proteins comprising 38% identities and 55% similarities. Each contains two CUB domain and an EGF domain separating the two CUB domains, EGF domain has Ca2+ binding site tracked by two CCP1 (complement controlling protein1) and CCP2 (Figure 3B). This is followed by a linker section and a chymotrypsin-like serine protease area at C-terminal end. C1 s and C1 r in circulation are orderly arranged as tetramer, C1 s-C1 r-C1 r-C1 s [23]. A multi-molecular C1 complex is formed after C1q attaches to Fc region of IgG in presence of calcium. C1 s further triggers C4 and C2 to C4b2a called C3 convertase [24].
Molecular characteristics of testicular germ cell tumors: pathogenesis and mechanisms of therapy resistance
Published in Expert Review of Anticancer Therapy, 2020
Khaleel I. Al-Obaidy, Michal Chovanec, Liang Cheng
Multiple factors contribute to the development of TGCT, of which, the interplay between genetic and environmental factors are considered the main [3–5]. This theory is supported by the large differences in incidences between ethnic and geographic groups [6]. Evidence does not support single gene alteration as a robust universal driver of TGCT development. However, specific gene expression signature has been associated with the susceptibility to TGCTs [7]. At the molecular level, alteration of the short arm of chromosome 12 is the hallmark biomarker of germ cell tumors [8]. It is identified in almost all invasive TGCTs, intratubular seminoma and embryonal carcinoma, as well as somatic-type malignancies arising from a germ cell origin [9]. Isochromosome 12p, specifically, is the most common alteration observed in about ~80% of cases. It probably arises from an erroneous centromeric division during mitotic anaphase, preceded by polyploidization (tetraploidization) [10]. Interestingly, isolated germ cell neoplasia in situ (GCNIS) without an adjacent invasive component does not have the isochromosome 12p; however, its presence adjacent to invasive tumors suggests that isochromosome 12p is associated with progression to an overt tumor and acquisition of invasive phenotype.