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18,684 results on '"Iskander A"'

352. Fine-Mapping Complex Inversion Breakpoints and Investigating Somatic Pairing in the Anopheles gambiae Species Complex Using Proximity-Ligation Sequencing

Author

Corbett-Detig, Russell B, Said, Iskander, Calzetta, Maria, Genetti, Max, McBroome, Jakob, Maurer, Nicholas W, Petrarca, Vincenzo, della Torre, Alessandra, and Besansky, Nora J

Subjects
Biological Sciences, Genetics, Biotechnology, Infectious Diseases, Vector-Borne Diseases, Good Health and Well Being, Animals, Anopheles, Chromosome Breakpoints, Chromosome Inversion, Confidence Intervals, Evolution, Molecular, Genome, Insect, Heterozygote, Karyotype, Physical Chromosome Mapping, Reproducibility of Results, Sequence Analysis, DNA, Chromosomal Inversion, Hi-C, Developmental Biology, Biochemistry and cell biology
Abstract

Chromosomal inversions are fundamental drivers of genome evolution. In the main Afrotropical malaria vector species, belonging to the Anopheles gambiae species complex, inversions play an important role in local adaptation and have a rich history of cytological study. Despite the importance and ubiquity of some chromosomal inversions across the species complex, inversion breakpoints are often challenging to map molecularly due to the presence of large repetitive regions. Here, we develop an approach that uses Hi-C sequencing data to molecularly fine-map the breakpoints of inversions. We demonstrate that this approach is robust and likely to be widely applicable for both identification and fine-mapping inversion breakpoints in species whose inversions have heretofore been challenging to characterize. We apply our method to interrogate the previously unknown inversion breakpoints of 2Rbc and 2Rd in An. coluzzii We found that inversion breakpoints occur in large repetitive regions, and, strikingly, among three inversions analyzed, two breakpoints appear to be reused in two separate inversions. These breakpoint-adjacent regions are strongly enriched for the presence of a 30 bp satellite repeat sequence. Because low frequency inversion breakpoints are not correlated with genomic regions containing this satellite, we suggest that interrupting this particular repeat may result in arrangements with higher relative fitness. Additionally, we use heterozygous individuals to quantitatively investigate the impacts of somatic pairing in the regions immediately surrounding inversion breakpoints. Finally, we discuss important considerations for possible applications of this approach for inversion breakpoint identification in a range of organisms.

Published
2019

353. Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.

Author

Chan, Alvin, Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian, and Yeh, Joanna

Abstract

Pediatric diverticular disease is extremely rare, with most cases associated with connective tissue disorders. We report an adolescent boy with syndromic features who presented with acute complicated sigmoid diverticulitis. Clinical exome sequencing analysis detected a 6.5-Mb region of homozygosity on chromosome 14, consistent with partial maternal uniparental disomy. Analysis of this region did not identify rare homozygous variants but included several imprinted genes that were candidates for the observed phenotypes. The pediatric clinical presentation of diverticulosis in this patient has not been previously described in maternal uniparental disomy of chromosome 14 and adds to the phenotypic spectrum of the syndrome.

Published
2019

354. Legal Protection For Minority Shareholders In Egyptian Companies

Author

Iskander, Joseph

Subjects
Capital market -- Laws, regulations and rules, Corporation law -- Interpretation and construction, Stock rights -- Laws, regulations and rules, Government regulation, Business, international, Egypt. Capital Market Law 1992, Egypt. Companies Law 1981
Abstract

Minority shareholders in Egyptian companies face the risk of having their interests overshadowed by majority shareholders or company management. To safeguard against this, Egyptian law provides specific protections to ensure [...]

Published
2024

355. Illegality In Egyptian Criminal Procedure: Limits Of Lawful Searches

Author

Iskander, Maher Milad

Subjects
Searches and seizures -- Laws, regulations and rules, Government regulation, Business, international, Egypt. Code of Criminal Procedure, Egypt. Constitution
Abstract

According to Article 54 of the Constitution, personal freedom is a natural right that is inviolable. Except in cases of flagrante delicto, no one may be arrested, searched, or have [...]

Published
2024

356. Antitrust Laws For Tech Companies In Egypt

Author

Iskander, Joseph

Subjects
Antitrust law -- Interpretation and construction, High technology industry -- Laws, regulations and rules, Consumer protection -- Laws, regulations and rules, Unfair competition (Commerce) -- Laws, regulations and rules, Government regulation, Antitrust issue, Business, international, Egypt. Protection of Competition and the Prohibition of Monopolistic Practices Law 2005
Abstract

In Egypt's rapidly evolving tech landscape, understanding and adhering to antitrust laws in Egypt is crucial for tech companies to maintain competitive integrity and avoid legal repercussions. As the Egyptian [...]

Published
2024

357. Legal Requirements For Data Centers In Egypt

Author

Iskander, Joseph

Subjects
Government regulation, Business, international
Abstract

With the rapid expansion of digital transformation, the demand for data centers in Egypt has grown significantly. Data centers are critical infrastructure for supporting the storage, processing, and dissemination of [...]

Published
2024

358. Cold Calling In Egypt: Legal Aspects And Data Privacy Concerns

Author

Iskander, Joseph

Subjects
Telemarketing -- Laws, regulations and rules, Privacy, Right of -- Laws, regulations and rules, Consumer protection -- Laws, regulations and rules, Government regulation, Business, international
Abstract

Cold calling, the practice of contacting potential customers who have not previously expressed interest in a product or service, is a common marketing strategy in Egypt and worldwide. This article [...]

Published
2024

359. Regulations Around Crowdfunding In Egypt

Author

Iskander, Joseph

Subjects
Investor relations -- Forecasts and trends -- Laws, regulations and rules, Crowdfunding -- Forecasts and trends -- Laws, regulations and rules, Corporations -- Finance, Government regulation, Market trend/market analysis, Business, international
Abstract

Crowdfunding and crowdsourcing have emerged as innovative financial tools, providing significant opportunities for entrepreneurs, startups, and social projects to secure funding in Egypt. This article outlines the current legal framework [...]

Published
2024

361. Pharmacomechanical Catheter-Directed Thrombolysis With the Bashir Endovascular Catheter for Acute Pulmonary Embolism: The RESCUE Study

Author

Bashir, Riyaz, Foster, Malcolm, Iskander, Ayman, Darki, Amir, Jaber, Wissam, Rali, Parth M., Lakhter, Vladimir, Gandhi, Ripal, Klein, Andrew, Bhatheja, Rohit, Ross, Charles, Natarajan, Kannan, Nanjundappa, Aravinda, Angle, John F., Ouriel, Kenneth, Amoroso, Nancy E., Firth, Brian G., Comerota, Anthony J., Piazza, Gregory, Rosenfield, Kenneth, and Sista, Akhilesh K.

Published
2022
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396. Molecular and cellular pathogenesis of the erythroid defect and the therapeutic effect of glucocorticoids in Diamond-Blackfan anaemia

Author

Iskander, Deena Mohsen, Karadimitris, Anastasios, and Roberts, Irene

Abstract

Diamond-Blackfan Anaemia (DBA) is a rare inherited bone marrow (BM) failure syndrome characterised by selective anaemia, congenital anomalies and predisposition to malignancy. DBA is caused by monoallelic, loss-of-function mutations in ribosomal protein (RP) genes. Delineation of the precise erythroid defect underpinning anaemia in DBA has been hampered by a lack of markers that define cells giving rise to burst- and colony-forming unit-erythroid (BFU-E and CFU-E) colonies, i.e., the clonogenic assays that quantify early and late erythroid progenitor (EP) potential respectively. By combining flow-cytometry, cell-sorting and single cell clonogenic assays, I identify Lin-CD34+CD38+CD45RA-CD123-CD71+CD41a-CD105-CD36- BM cells as early EP (EEP) and Lin-CD34+/-CD38+CD45RA-CD123-CD71+CD41a-CD105+CD36+ cells as late EP (LEP) giving rise to BFU-E and CFU-E respectively. By applying these definitions to DBA, I reveal, for the first time, that both quantitative and qualitative defects in EEP and LEP contribute to defective erythropoiesis in DBA and its restoration by corticosteroids (CS). I also demonstrate that, while an EP defect associated with profound loss of erythroblasts (EB) is present in transfusion-dependent (TD) patients with RPS gene-associated DBA, EP/EB are relatively preserved in TD patients with RPL gene variants. Transcriptome profiling by RNA-sequencing of FACS-purified EB from RPL genotype patients compared with age-matched controls, provides a unique dataset showing a distinct DBA molecular signature, characterised by p53 and inflammatory signalling pathways. Remarkably, the cellular differences between RPL and RPS gene-associated DBA correlate with divergent clinical phenotypes: patients with RPL rather than RPS gene pathogenic variants are more likely to present with anaemia at an older age, and to respond to CS. Finally, although DBA is rare, I demonstrate its wider utility as a paradigm of disordered erythroid commitment, providing insight into normal haematopoiesis. The strategies described for prospective isolation of EP/EB constitute an original contribution to knowledge that will facilitate more incisive study of normal and aberrant erythropoiesis.

Published
2018
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