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M
samia Badawi, M. G., and A. Adli, "Mütenebbi ile Nef'i'nin Arasında Övgü Kasideleri Karşılaştırmalı İnceleme", V. Uluslararası Karşılaştırmalı Edebiyat Bilimi Kongresi, mersin, 14-15-16 october, 2014. nefi.docx
Bizet, A. A., A. Becker-Heck, R. Ryan, K. Weber, E. Filhol, P. Krug, J. Halbritter, M. Delous, M. - C. Lasbennes, B. Linghu, et al., "Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.", Nature communications, vol. 6, pp. 8666, 2015. AbstractWebsite

Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos. Our findings highlight the regulation of cytoplasmic microtubule dynamics as a role of the IFT54 protein beyond the cilium, contributing to the development of NPH-related ciliopathies.

Ashraf, S., H. Kudo, J. Rao, A. Kikuchi, E. Widmeier, J. A. Lawson, W. Tan, T. Hermle, J. K. Warejko, S. Shril, et al., "Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.", Nature communications, vol. 9, issue 1, pp. 1960, 2018 05 17. Abstract

No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate. Treatment with dexamethasone abolishes RhoA activation by knockdown of DLC1 or CDK20 indicating that steroid treatment in patients with pTSNS and mutations in these genes is mediated by this RLSG module. Furthermore, we discover ITSN1 and ITSN2 as podocytic guanine nucleotide exchange factors for Cdc42. We generate Itsn2-L knockout mice that recapitulate the mild NS phenotype. We, thus, define a functional network of RhoA regulation, thereby revealing potential therapeutic targets.

Meshaal, S., R. E. Hawary, M. Elsharkawy, R. K. Mousa, R. J. Farid, D. A. Elaziz, R. Alkady, N. Galal, M. J. Massaad, J. Boutros, et al., "Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.", Clinical immunology (Orlando, Fla.), vol. 158, issue 2, pp. 167-73, 2015 Jun. Abstract

The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID.

Meshaal, S., R. E. Hawary, M. Elsharkawy, R. Mousa, R. Farid, D. A. Elaziz, R. Alkady, N. Galal, M. Massaad, J. Boutros, et al., "Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt", C l i n i c a l Immunology, vol. 2015, issue 158, pp. 167-172, 2015.
Meshaal, S., R. E. Hawary, M. Elsharkawy, R. K. Mousa, R. J. Farid, D. A. Elaziz, R. Alkady, N. Galal, M. J. Massaad, J. Boutros, et al., "Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt", Clinical immunology, vol. 158, pp. 167-172, 2015.
Meshaal, S., R. E. Hawary, M. Elsharkawy, R. Alkady, R. K. Mousa, R. J. Farid, D. A. Elaziz, N. Galal, J. Boutros, M. J. Massaad, et al., "Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt", Clinical Immunology, 2015.
Meshaal, S., R. E. Hawarya, M. Elsharkawy, R. K. Mousa, R. J. Farid, D. A. Elaziz, R. Alkady, N. Galal, M. J. Massaad, J. Boutros, et al., "Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt", Clinical Immunology, pp. 158-167, 2015.
Meshaal, S., R. E. Hawary, M. Elsharkawy, R. K. Mousa, R. J. Farid, D. A. Elaziz, R. Alkady, N. Galal, M. J. Massaad, J. Boutros, et al., Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt, , 2015.
Braun, D. A., J. Rao, G. Mollet, D. Schapiro, M. - C. Daugeron, W. Tan, O. Gribouval, O. Boyer, P. Revy, T. Jobst-Schwan, et al., "Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.", Nature genetics, vol. 49, issue 10, pp. 1529-1538, 2017 Oct. Abstract

Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.

Abdulrahman, D. A., A. H. El-deeb, NG Shafik, M. A. Shaheen, and H. A. Hussein, "Mutations in foot and mouth disease virus types A and O isolated from vaccinated animals‏", Rev. Sci. Tech. Off. Int. Epiz, vol. 38, issue 3, pp. 2, 2019.
a, Z. M. S., S. L. b, M. L. b, M. I. G. b, F. A. G. c, G. S. B. d, and G. J. G. c, "Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis", Clinical genetics, pp. doi: 10.1111/cge.12516, 2014. fah2_novel_mutations_2.pdf
DY, H., D. GC, K. S, S. P, V. A, H. AC, R. HM, S. NA, B. R, K. EO, et al., "Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.", Kidney International, 2014. AbstractWebsite

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were vesicoureteral reflux in 288 patients, renal hypodysplasia in 120 patients, and unilateral renal agenesis in 90 patients. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children.Kidney International advance online publication, 15 January 2014; doi:10.1038/ki.2013.508.

Mann, N., S. Mzoughi, R. Schneider, S. J. Kühl, D. Schanze, V. Klämbt, S. Lovric, Y. Mao, S. Shi, W. Tan, et al., "Mutations in Are a Novel Cause of Galloway-Mowat Syndrome.", Journal of the American Society of Nephrology : JASN, vol. 32, issue 3, pp. 580-596, 2021. Abstract

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is characterized by neurodevelopmental defects and a progressive nephropathy, which typically manifests as steroid-resistant nephrotic syndrome. The prognosis of GAMOS is poor, and the majority of children progress to renal failure. The discovery of monogenic causes of GAMOS has uncovered molecular pathways involved in the pathogenesis of disease.

METHODS: Homozygosity mapping, whole-exome sequencing, and linkage analysis were used to identify mutations in four families with a GAMOS-like phenotype, and high-throughput PCR technology was applied to 91 individuals with GAMOS and 816 individuals with isolated nephrotic syndrome. and studies determined the functional significance of the mutations identified.

RESULTS: Three biallelic variants of the transcriptional regulator were detected in six families with proteinuric kidney disease. Four families with a variant in the protein's zinc-finger (ZNF) domain have additional GAMOS-like features, including brain anomalies, cardiac defects, and skeletal defects. All variants destabilize the PRDM15 protein, and the ZNF variant additionally interferes with transcriptional activation. Morpholino oligonucleotide-mediated knockdown of Prdm15 in embryos disrupted pronephric development. Human wild-type RNA rescued the disruption, but the three variants did not. Finally, CRISPR-mediated knockout of in human podocytes led to dysregulation of several renal developmental genes.

CONCLUSIONS: Variants in can cause either isolated nephrotic syndrome or a GAMOS-type syndrome on an allelic basis. PRDM15 regulates multiple developmental kidney genes, and is likely to play an essential role in renal development in humans.

doaa ghaith, M. Elzahry, G. Mostafa, S. Mostafa, R. E. Sherif, and I. Ramzy, "Mutations affecting domain V of the 23S rRNA gene in Helicobacter pylori from Cairo, Egypt.", Journal of chemotherapy (Florence, Italy), pp. 1973947815Y0000000067, 2015 Sep 11. Abstract

BACKGROUND: Clarithromycin is a main component of the recommended first-line triple therapy for Helicobacter pylori in Egypt. We aimed in our study to investigate the prevalence of clarithromycin-resistant H. pylori strains due to the point mutations at domain V of the H. pylori 23S rRNA among the Egyptian population using the polymerase chain reaction/restricted fragment length polymorphism (PCR/RFLP) assay.

METHODS: Gastric biopsies obtained from 100 dyspeptic patients who consecutively attended at Cairo University Hospital during the period from January to November 2013 were subjected to PCR/RFLP in order to detect the point mutations at domain V of the H. pylori 23S rRNA associated with clarithromycin resistance. The PCR amplicon of the 23S H. pylori rRNA is restricted with MboII for detection of A2142G mutation and with BsaI for A2143G mutation.

RESULTS: The prevalence of H. pylori infection among 100 patients was 70%; clarithromycin resistance was detected in 39/70 (57.7%) of positive H. pylori isolates. Occurrence of 23S rRNA A2142G mutations resulted in two DNA fragments (418 and 350 bp) by PCR-RFLP; on the other hand, no A2143G mutations were detected.

CONCLUSIONS: The high prevalence of clarithromycin resistance (57.7%) caused by A2142G mutations at domain V of the H. pylori 23S rRNA may mandate changing of the standard clarithromycin-containing triple therapy. The PCR/RFLP assay was a rapid and accurate method for molecular detection of H. pylori infection in addition to determination of different nucleotide mutations causing clarithromycin resistance.

doaa ghaith, M. Elzahry, G. Mostafa, S. Mostafa, R. E. Sherif, and I. Ramzy, "Mutations affecting domain V of the 23S rRNA gene in Helicobacter pylori from Cairo, Egypt", Journal of Chemotherapy, vol. 28, no. 5: Taylor & Francis, pp. 367–370, 2016. Abstract
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Amr, K., O. Messaoud, M. El Darouti, S. Abdelhak, and G. El-Kamah, "Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients", Gene, vol. 533, issue 1, pp. 52-56, 2014.
NA, S., E. MA, H. van den L, H. RH, G. M, B. I, M. S, and L. E, "Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.", Journal of Inherited Disease Reports, 2014. AbstractWebsite

Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egyptian patients with nephropathic cystinosis and their genotype-phenotype correlation. Methods: Fifteen Egyptian patients from 13 unrelated families with infantile nephropathic cystinosis were evaluated clinically, biochemically, and genetically. Screening for the common 57-kb deletion was performed by standard multiplex PCR, followed by direct sequencing of the ten coding exons, exon-intron interfaces, and promoter region. Results: None of the 15 Egyptian patients had the 57-kb deletion. Twenty-seven mutant alleles and 12 pathogenic mutations were detected including six novel mutations: two frameshift (c.260_261delTT; p.F87SfsX36, c.1032delCinsTG; p.F345CfsX19), one nonsense (c.734G>A; p.W245fsX), two missense (c.1084G>A; pG362R, c.560A>G; p.K187R), and one intronic splicing mutation (IVS3+5g>t). A novel promoter region mutation (1-593-41C>T) seemed to be detected but was excluded as a pathogenic mutation by quantitative real-time PCR analysis. Conclusions: This study could be the basis for future genetic counseling and prenatal diagnosis of patients with nephropathic cystinosis in Egyptian and surrounding populations. The screening for the 57-kb deletion is not recommended anymore outside its geographical distribution, especially in the region of the Middle East. A common Middle Eastern mutation (c.681G>A; E227E) was pointed out and discussed.

Soliman, N. A., M. A. Elmonem, L. van den Heuvel, R. A. H. Hamid, M. Gamal, I. Bongaers, S. Marie, and E. Levtchenko, "Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.", JIMD reports, 2014 Jan 25. Abstract

Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egyptian patients with nephropathic cystinosis and their genotype-phenotype correlation. Methods: Fifteen Egyptian patients from 13 unrelated families with infantile nephropathic cystinosis were evaluated clinically, biochemically, and genetically. Screening for the common 57-kb deletion was performed by standard multiplex PCR, followed by direct sequencing of the ten coding exons, exon-intron interfaces, and promoter region. Results: None of the 15 Egyptian patients had the 57-kb deletion. Twenty-seven mutant alleles and 12 pathogenic mutations were detected including six novel mutations: two frameshift (c.260_261delTT; p.F87SfsX36, c.1032delCinsTG; p.F345CfsX19), one nonsense (c.734G>A; p.W245fsX), two missense (c.1084G>A; pG362R, c.560A>G; p.K187R), and one intronic splicing mutation (IVS3+5g>t). A novel promoter region mutation (1-593-41C>T) seemed to be detected but was excluded as a pathogenic mutation by quantitative real-time PCR analysis. Conclusions: This study could be the basis for future genetic counseling and prenatal diagnosis of patients with nephropathic cystinosis in Egyptian and surrounding populations. The screening for the 57-kb deletion is not recommended anymore outside its geographical distribution, especially in the region of the Middle East. A common Middle Eastern mutation (c.681G>A; E227E) was pointed out and discussed.

Soliman, N. A., M. A. Elmonem, L. van den Heuvel, R. A. H. Hamid, M. G. E. - D. Fathallah, I. Bongaers, S. Marie, and E. Levtchenko, "Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis", JIMD Reports, 2014.
N Abdel-Aziz N, E. - K. Y. G., A Khairat R, H. R. H. Mohamed, and A. K. S. Z Gad Y, El-Ghor AM, "Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1. ", Molecular Genetics and Genomics Medicine, vol. 9, issue 12, pp. e1631 1-17, 2021.
El-Mogy, F., M. Hafez, A. Ibrahim, N. Musa, and H. Soliman, "Mutational Spectrum in Egyptian CAH Patients ", THE 2ND ARAB SOCIETY FOR PEDIATRIC ENDOCRINOLOGY AND DIABETES CONFERENCE ( 3 DAYS ) , Abu Dhabi–UAE, november 2014. project_final.ppt
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