The Mouse Skin as a Model for Chemical Carcinogenesis
John P. Sundberg in Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
Alterations of Chromosome 7 have been thoroughly studied in our laboratory (Figure 3). The H-rαs gene, known to be mutated in these tumors, has been mapped to this chromosome.17 Quantitative hybridization studies have shown that trisomy of Chromosome 7 occurs by duplication of the chromosome carrying the mutated ras allele, resulting in overdosage of the mutated ras gene. A correlation between the number of copies of the mutated ras and the degree of aggressiveness of the tumor was reported.45 A more detailed study of allelic losses in this chromosome showed that loss of heterozygosity (LOH) involves other loci and seems to be caused by mitotic recombination. It is postulated that allelic losses in this chromosome are reflecting the loss of a tumor suppressor gene located in this chromosomal region.46,47 The murine Chromosome 7F-ter is syntenic with human 11p15 and 11q13 where the presence of tumor suppressor genes has been postulated. Consistent with this hypothesis, unpublished results from our laboratory showed that microtransfection of a human Chromosome 11 into cell lines derived from mouse chemically induced SCC results in suppressed or decreased tumorigenicity.
Endogenous Proviruses
Pimentel Enrique in Oncogenes, 2020
Another human endogenous virus, ERV3, consists also of a single copy and is located on chromosome 7.21 Monosomy or partial deletion of human chromosome 7 is frequently observed in ANLL. The proto-oncogene c-erb-B is located on the same chromosome but at a position (7p 11-13) outside the usual site of breakage in ANLL (7q32-34). It remains to be determined whether ERV3 is located near this chromosomal breakpoint and whether it plays a role in the fragility of this site.22 Although ERV3 retains the typical full-length gene order of retroviruses (5′LTR-gag-pol-env-3′LTR), it is apparently also a defective provirus due to the presence of terminator codons in the open reading frames of both its gag and pol gene sequences. ERV3 cannot function as an infectious virus but some of its genes may be capable of expression. The 5′ and 3′ LTRs of ERV3 resemble those of functional mammalian type-C retroviruses but have diverged from one another by 8.8%.22
Developmental Diseases of the Nervous System
Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw in Hankey's Clinical Neurology, 2020
HHT has an autosomal dominant inheritance. Linkage analysis indicates at least five genes, four of which have been identified. The genes for HHT are located in the transforming growth factor beta (TGF-β) signaling pathway that regulates cell proliferation, differentiation, apoptosis, and migration. Mutations in endoglin or ENG, activin receptor-like kinase or ALK1/ACVRL, and Smad 4, cause JJT1, HHT2, and the combined juvenile polyposis HHT syndrome, respectively. Endoglin and ACVRL1 mutations are seen in roughly 85% of cases. Smad4 mutations are seen in less than 2% of cases. Mutations in bone morphogenetic 9 protein (BMP9 – GDF2 gene) have been reported in some patients. This gene exerts its effects by binding to specific endothelial cell surface receptors, which leads to the association of Smad proteins that regulate gene expression in endothelial cells. Approximately 15% of patients who appear to have HHT clinically do not have identifiable mutations. Additional genes are predicted on chromosome 5 (HHT3) and chromosome 7 (HHT4).
Primary lung cancer cell culture from transthoracic needle biopsy samples
Published in Cogent Medicine, 2018
Angélica M. Herreño, María J. Fernández, Laura Rey, Juan A. Mejía, Alejandra Cañas, Olga M. Moreno, Berta Henríquez, Martín A. Montecino, Adriana P. Rojas
In this context, main alterations observed in primary ADCs were in chromosome 7, such as long arm deletions, p11p13 amplification, which houses EGFR gene and translocation in mucinous ADC (case 5) t(2;7)(p24;q22). Its rearrangement has not been previously described; therefore, its tumorigenesis is unknown (Scagliotti, Parikh, & Von Pawel et al., 2008). Chromosome 7 houses important genes implicated in tumor development and progress, such as MET, EGFR, BRAF, EZH2. All of them are known for their involvement in tumor phenotype alterations. In NSCLC, various gene mutations and amplifications, as well as rearrangements and chromosome copy number alterations (CNAs), have been associated with prognosis and treatment response (Schiller et al., 2002; World Health Organization, 2004).
Pharmacotherapeutic approaches for transportation of anticancer agents via skin
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2018
Pravin Shende, Jai Vaidya, R. S. Gaud
This new technique is employed for naked nucleic acid delivery for the treatment of cancer, as systemic delivery is limited due to the non-specific delivery due to destabilized blood circulation. In jet-injection technique, high air pressure is used that allows the site-specific targeted delivery of the drug. (Figure 10) Moreover, this technique is reliable and easy-to-use as it can be used over large area of skin without causing any irreversible or prolonged damage to the skin. ‘Chromosome 7 open reading frame 24’, is up-regulated in various forms of cancer and is generally linked with proliferation stage. The study conducted by Hama et al., the anti-tumour effect of anti-chromosome 7 open reading frame 24 small interfering RNA administered by needle-free jet injection for treatment of lung cancer in mice. This technique could successfully deliver anti-chromosome 7 open reading frame 24 siRNA to tumour, which inhibited the tumour growth by reducing ‘Chromosome 7 open reading frame 24’ levels [56].
Lacrimal drainage system anomalies in Williams-Beuren syndrome
Published in Orbit, 2021
The article confirms to the Tenets of Declaration of Helsinki. Parent consent to publish was obtained. The facial images were in addition cropped in a way to depict only what is needed and protect the privacy of the patient. Williams-Beuren (WB) syndrome or simply Williams syndrome is a rare genetic disorder affecting 1:10000 to 1:20000 live-births.1,2 The disorder is secondary to contiguous gene deletion in a specific region of chromosome 7, called as the Williams-Beuren syndrome chromosome region (7q11.23).1–5 The deletion is sporadic in all cases. Clinical features along with genetic analysis using fluorescent in-situ hybridization (FISH) techniques are essential for the diagnosis.1–5 The WB syndrome affects numerous systems including connective tissue, cardiovascular, nervous, endocrine, genitourinary and musculoskeletal systems. Common systemic manifestations include dysmorphic facies, intellectual disabilities, typical cognitive profile, supravalvular aortic stenoses, intracardiac lesions, glucose intolerance, gastroesophageal reflux.1–5 Common ophthalmic manifestations include refractive errors, strabismus, reduced stereopsis, stellate iris and tortuous retinal vessels.3–9 Lacrimal drainage anomalies are rarely described with no further details of those reported patients.3–5 The present case describes multiple lacrimal drainage anomalies in a child with Williams-Beuren syndrome.
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