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Adnan-Awad, S., M. Kankainen, and S. Mustjoki, "Mutational landscape of chronic myeloid leukemia: More than a single oncogene leukemia", Leukemia & lymphoma, vol. 62, no. 9: Taylor & Francis, pp. 2064–2078, 2021. Abstract
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Kassem, A. M., N. El-Guendy, M. Tantawy, H. Abdelhady, A. El-Ghor, and A. H. A. Wahab, "Mutational hotspots in the mitochondrial D-loop region of cancerous and precancerous colorectal lesions in Egyptian patients.", DNA and cell biology, vol. 30, issue 11, pp. 899-906, 2011 Nov. Abstract

Mutations in the mitochondrial genome (mtDNA) are associated with different types of cancer, specifically colorectal cancer (CRC). However, few studies have been performed on precancerous lesions, such as ulcerative colitis (UC) lesions and adenomatous polyps (AP). The aim of this study was to identify mtDNA mutations in the cancerous and precancerous lesions of Egyptian patients. An analysis of the mutations found in six regions of the mtDNA genome (ND1, ND5, COI, tRNAser, D-loop 1, and 2) in 80 Egyptian patients (40 CRC, 20 UC, and 20 AP) was performed using polymerase chain reaction-single-strand conformational polymorphism techniques and followed up by direct sequencing. The overall incidence of mutations was 25%, 25%, and 35% in CRC, UC, and AP cases, respectively. Although there was no common mutation pattern within each group, a large number of mutations were detected in the D-loop region in all of the groups. Some mutations (e.g., T414G) were detected repeatedly in precancerous (UC and AP) and cancerous lesions. Mutations detected in patients with CRC were predominantly found in the ND1 gene (40%). Our preliminary study suggests that Egyptian patients with CRC have a large number of mtDNA mutations, especially in the D-loop region, which have not been previously reported. Mutations in the mtDNA of precancerous lesions (i.e., AP and UC) may contribute to transformation events that lead to CRC.

Kassem, A. M., N. El-Guendy, M. Tantawy, H. Abdelhady, A. El-Ghor, and A. H. A. Wahab, "Mutational hotspots in the mitochondrial D-loop region of cancerous and precancerous colorectal lesions in Egyptian patients.", DNA and cell biology, vol. 30, issue 11, pp. 899-906, 2011 Nov. Abstract

Mutations in the mitochondrial genome (mtDNA) are associated with different types of cancer, specifically colorectal cancer (CRC). However, few studies have been performed on precancerous lesions, such as ulcerative colitis (UC) lesions and adenomatous polyps (AP). The aim of this study was to identify mtDNA mutations in the cancerous and precancerous lesions of Egyptian patients. An analysis of the mutations found in six regions of the mtDNA genome (ND1, ND5, COI, tRNAser, D-loop 1, and 2) in 80 Egyptian patients (40 CRC, 20 UC, and 20 AP) was performed using polymerase chain reaction-single-strand conformational polymorphism techniques and followed up by direct sequencing. The overall incidence of mutations was 25%, 25%, and 35% in CRC, UC, and AP cases, respectively. Although there was no common mutation pattern within each group, a large number of mutations were detected in the D-loop region in all of the groups. Some mutations (e.g., T414G) were detected repeatedly in precancerous (UC and AP) and cancerous lesions. Mutations detected in patients with CRC were predominantly found in the ND1 gene (40%). Our preliminary study suggests that Egyptian patients with CRC have a large number of mtDNA mutations, especially in the D-loop region, which have not been previously reported. Mutations in the mtDNA of precancerous lesions (i.e., AP and UC) may contribute to transformation events that lead to CRC.

Kassem, A. M., N. El-Guendy, M. Tantawy, H. Abdelhady, A. El-Ghor, and A. H. A. Wahab, "Mutational Hotspots in the Mitochondrial D-Loop Region in ", DNA and Cell Biology, 2011.
Zitare, U. A., M. H. Habib, H. Rozeboom, M. L. Mascotti, S. Todorovic, and M. W. Fraaije, "Mutational and structural analysis of an ancestral fungal dye-decolorizing peroxidase.", The FEBS journal, 2020. Abstract

Dye-decolorizing peroxidases (DyPs) constitute a superfamily of heme-containing peroxidases that are related neither to animal nor to plant peroxidase families. These are divided into four classes (types A, B, C, and D) based on sequence features. The active site of DyPs contains two highly conserved distal ligands, an aspartate and an arginine, the roles of which are still controversial. These ligands have mainly been studied in class A-C bacterial DyPs, largely because no effective recombinant expression systems have been developed for the fungal (D-type) DyPs. In this work, we employ ancestral sequence reconstruction (ASR) to resurrect a D-type DyP ancestor, AncDyPD-b1. Expression of AncDyPD-b1 in Escherichia coli results in large amounts of a heme-containing soluble protein and allows for the first mutagenesis study on the two distal ligands of a fungal DyP. UV-Vis and resonance Raman (RR) spectroscopic analyses, in combination with steady-state kinetics and the crystal structure, reveal fine pH-dependent details about the heme active site structure and show that both the aspartate (D222) and the arginine (R390) are crucial for hydrogen peroxide reduction. Moreover, the data indicate that these two residues play important but mechanistically different roles on the intraprotein long-range electron transfer process. DATABASE: Structural data are available in the PDB database under the accession number 7ANV.

Essawi, M. L., M. F. Ismail, H. H. Afifi, and M. M. Kobesiy, Mutational analysis of PTPN11 gene in Egyptian patients with Noonan syndrome. , , 2013.
Hassan, F. A., I. Mandour, A. Mohey, A. S. Nasr, R. Zeyada, and E. Bishr, "Mutational Analysis Of Bone Morphogenetic Protein 15 (Bmp15) And Inhibin Alpha Gene In Egyptian Females With Ovarian Failure.", Acta Endo (Buc), vol. 3, issue 8, pp. 345-356, 2012.
Hassan, F. A., I.Mandour, A. Mohey, A. soliman Nasr, R. Zeyada, and E. Bishr, "Mutational Analysis of Bone Morphogenetic Protein 15 (BMP15) And Inhibin Alpha Gene in Egyptian Females with Ovarian Failure ", Acta Endocrinologica (Buc), vol. 8, issue 3, pp. 345-356, 2012.
Takasawa, A., I. Kato, K. Takasawa, Y. Ishii, T. Yoshida, M. H. Shehata, H. Kawaguchi, O. M. Mohafez, M. Sasahara, and K. Hiraga, "Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice", J Biol Chem, vol. 283, no. 51, pp. 35606-13, Dec 19, 2008. AbstractWebsite

Mutations in human neuroserpin gene cause an autosomal dementia, familial encephalopathy with neuroserpin inclusion bodies (FENIB). We generated and analyzed transgenic mice expressing high levels of either FENIB-type (G392E) or wild-type human neuroserpin in neurons of the central nervous system. G392E neuroserpin accumulated age-dependently in neurons of the neocortex, thalamus, amygdala, pons, and spinal cord of homozygous transgenic mice. Such accumulations were not observed in hemizygous transgenic mice nor in transgenic mice for wild-type neuroserpin. In differential centrifugation of brain homogenates, G392E neuroserpin recovered in the nucleus-rich fraction dramatically increased along with aging, suggesting that the aggregations gradually increase their densities presumably by their conversion into heavier and more compact configurations. In immunoelectron microscopical analyses, immunopositivities for G392E neuroserpin were found not only in endoplasmic reticulum but also in lysosomes. G392E neuroserpin transgenic mice were much more susceptible to seizures induced by kainate administration than nontransgenic mice. Overall, G392E neuroserpin accumulated in the central nervous system neurons of transgenic mice in mutation-, aging-, and gene dosage-dependent manners. The established transgenic mice will be valuable to elucidate not only mechanisms for the formation of G392E neuroserpin aggregations but also pathways for the degradation and/or clearance of the already formed aggregations in neurons.

Shahin, W. A. K., D. A. Mehaney, and M. M. El-Falaki, "Mutation spectrum of Egyptian children with cystic fibrosis", SpringerPlus, vol. 5, no. 1: Springer International Publishing, pp. 686, 2016. Abstract
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Mosaad, Z., A. S. Arafa, H. A. Hussein, and M. A. Shalaby, "Mutation signature in neuraminidase gene of avian influenza H9N2/G1 in Egypt.", Virusdisease, vol. 28, issue 2, pp. 164-173, 2017 Jun. Abstract

The low pathogenic avian influenza (LPAI) H9N2 subtype has become the most prevalent and widespread in many Asian and Middle Eastern countries. It causes an enzootic situation in commercial poultry and known as a potential facilitator virus that can be transmitted to human from birds. The neuraminidase (NA) gene plays an important role the release and spread of the virus from infected cells and throughout the bird. The complete nucleotide sequences of the NA gene of seven H9N2 viruses collected from apparent healthy chicken and quail flocks in Egypt during 2014-2015, were amplified and sequenced. The phylogenetic relationships were investigated and all viruses were belonging to the A/Q/HK/G1/97 strain (G1-like). There were no insertions or deletions or shortening in NA stalk regions when compared to Y280-lineage and the human H9N2 isolates. No obvious changes NA interactions with antiviral drugs. We found that the Egyptian H9N2 viruses have seven glycosylation sites like the most recorded H9N2 viruses in the country, except A/Q/Egypt/14864V/2014 virus which has only six. The NA has four amino acid substitutions distributed in different parts of the hemadsorbing site. The most characteristic substitutions in this site were S372A and W403R these substitutions were a distinctive feature resembling to human H9N2, H2N2 and H3N2 viruses but differs from the other avian influenza viruses. These Special features of surface glycoproteins of LPAI-H9N2 viruses refer to the tendency for enhanced introductions into humans and ensuring the importance of poultry in the transfer influenza viruses.

El-Setouhy, M., C. A. Loffredo, G. Radwan, R. A. Rahman, E. Mahfouz, E. Israel, M. K. Mohamed, and S. B. A. Ayyad, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, , 2008. Abstract

Waterpipe smoking is popular in many parts of the world. Micronuclei (MN) evaluation in the exfoliated
oral cells of smokers is a non-invasive technique for evaluation of possible tobacco harm. We aimed to
assess whether MN levels are higher in waterpipe smokers than in never smokers. We examined oral
smears of 128 adult male waterpipe smokers and 78 males who never smoked tobacco in rural Egypt. The
total number of MN per 1000 cells per subject, and the number of MN-containing cells per individual were
compared. We observed a higher level of total MN in waterpipe smokers (10±4) than in never smokers
(4±2,p< 0.001). A similar difference was found for the mean number of affected cells per individual
(8±3 vs. 4±1.62,p< 0.001). MN levels were not significantly dose related. This study is among the first
to assess the association between waterpipe smoking and a cytogenetic measure of tobacco harm. The
twofold increase in MN level is consistent with previous reports of MN in cigarette smokers. More research
is needed to determine if such MN levels are predictive of future health consequences

ElMetnawy, W. H., M. Qenawi, S. Sabet, and H. Bassiony, "Mutation patterns of epidermal growth factor receptor gene in non-small cell lung cancer among Egyptian patients", EGYPTIAN JOURNAL OF BASIC AND APPLIED SCIENCES, vol. 9, issue 1, pp. 77-90, 2022.
Mazen, I., S. Lumbroso, S. Abdelghaffar, N. Salah, and C. Sultan, "Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions.", Journal of endocrinological investigation, vol. 27, issue 1, pp. 57-60, 2004 Jan. Abstract

The X-linked androgen insensitivity syndrome (AIS) encompasses a heterogeneous group of defects in the androgen receptor (AR) that result in varying degrees of undermasculinization. In the current study, we characterize the R840S mutation on exon 7 of the AR ligand-binding domain. The Egyptian patient, who had been reared as female, presented ambiguous genitalia at 6.5 yr. Diagnosis of partial AIS (PAIS) was based on clinical phenotype and laboratory evidence of good testosterone response and normal testosterone/dihydrotestosterone (T/DHT) ratio. The therapeutic response to testosterone depot injections justified reassignment to male sex. To our knowledge, this mutation has been reported only once in two Brazilian brothers with PAIS. Three other mutations of this residue (R840C; R840G, nonconservative; and R840H, conservative) have been reported in patients with PAIS and, when expressed in vitro, they led to subnormal transactivation of a reporter gene. Each of these mutations was associated with a very diverse spectrum of phenotypes. These data highlight the role of the AR ligand-binding pocket (LBP) in the expression of transcriptional activity during prenatal sex differentiation.

Alharthi, A. A., N. M. Kamal, S. E. Ismail, G. M. G. Shehab, H. M. Youssef, and Y. M. Hussei, "Mutation Of Congenital Chloride Loosing Diarrhea In Saudi Children", wulfenia, vol. 21, issue 11, pp. 234-242, 2014. cld_2014-libre.pdf
Shrief, S. A., "Mutation breeding in oil crops (Review article).", Egypt. J. Plant breed, vol. 2, pp. 155-177, 1998. Abstract
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Abdalla, M. M. F., "Mutation breeding in faba bean.", G. Hawtin and C. Webb (Eds.) Faba Bean Improvement: Martinus Nijhoff, Netherlands., pp. 83–90, 1982. Abstract
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Ovunc, B., S. Ashraf, V. Vega-Warner, D. Bockenhauer, N. A. Soliman Elshakhs, M. Joseph, F. Hildebrandt, and G. P. N.(G. P. N.) S. für Group, "Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients. ", Nephron Clinical Practice, vol. 120, issue 3, pp. :c139-46, 2012.
Noaishi, M. A., M. M. M. Afify, and N. F. E. Mahmoud, "Mutation Analysis of K-ras Gene in Peripheral Blood Lymphocytes of Egyptian Workers Occupationally Exposed to Multiple Pesticides", Journal of American Science, vol. 7, issue 12, pp. 1025-1030, 2011. AbstractWebsite

Abstract: Proto-oncogenes are cellular genes that are expressed during normal growth and developmental processes.
Mutated versions of normal proto-oncogenes have been implicated in the development of human neoplasia. The
present study is designed to investigate the association among three factors, occupational exposure to pesticides,
aging and smoking habit and their effects to induce k-ras gene mutation in lymphocytes of Egyptian workers
occupationally exposed to a mixture of pesticides in outdoor fields in El-Fayoum governorate. The k-ras gene
mutation can occur by many factors and not one factor induces the mutation. So we used a multiple linear regression
statistical test to estimate the interaction among these factors. We have found k-ras mutations occurred in 9 of 45
workers ≥40 years while in workers <40 years the mutation was 1 of 29 and the workers who occupationally
exposed to pesticides more than 15 years showed 9 cases of 29 (31.0%) and between workers exposed to less than
15 years showed 1 case of 45 (2.2%). In addition the results investigated the workers who were smoking more than
20 years exhibited mutations in 7 cases of 13 (53.8%) than workers were smoking less than 20 years who showed
only 3 cases of 25 (12.0%). There is no significant multiple linear regression of both age and pesticide exposure
factors (P= 0.766 and P = 0.232, respectively) but there is a significant association between k-ras mutation and
smoking factor (P < 0.043). More addition a highly significant multiple linear regressions are found between k-ras
mutation and smoking years factor (P < 0.001). In conclusion the interaction between tobacco smoking and other
factors like aging and occupational exposure to pesticides may play together the main role of k-ras gene mutation
and the sequential studies in the various animal models may be useful to give advanced information how these
environmental mutagens affect on these genes.
[Mohamed A. Noaishi, Mostafa M.M. Afify and Naglaa F.E. Mahmoud Mutation Analysis of K-ras Gene in
Peripheral Blood Lymphocytes of Egyptian Workers Occupationally Exposed to Multiple Pesticides] Journal
of American Science 2011; 7(12):1025-1030]. (ISSN: 1545-1003). http://www.americanscience.org.
Key Words: Occupationally exposed, Pesticides, Age, Smoking, K-ras, SSCP

Otto, E. A., G. Ramaswami, S. Janssen, M. Chaki, S. J. Allen, W. Zhou, R. Airik, T. W. Hurd, A. K. Ghosh, M. T. Wolf, et al., "Mutation Analysis of 18 Nephronophthisis Associated Ciliopathy Disease Genes using a DNA Pooling and Next Generation Sequencing Strategy", Journal of Medical Genetics, 2011. Abstract

Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS),

Otto, E. A., G. Ramaswami, S. Janssen, M. Chaki, S. J. Allen, W. Zhou, R. Airik, T. W. Hurd, A. K. Ghosh, M. T. Wolf, et al., "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy", Journal of Medical Genetics, vol. 48, issue 11, pp. 105-116, 2011.