Publications by authors named "R Abdella"

Article Synopsis
  • The study aimed to better understand severe serine biosynthesis defects by examining prenatal and postnatal effects in 12 unrelated Egyptian families with suspected Neu-Laxova syndrome (NLS).
  • Researchers employed fetal ultrasound, postnatal assessments, and whole exome sequencing (WES) to analyze this new cohort and reviewed existing literature for a broader context.
  • Findings included novel clinical signs and the identification of several genetic variants, expanding the understanding of serine biosynthesis disorders and highlighting the importance of prenatal exome sequencing.
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Mycotoxins are toxic metabolites produced by fungi that may cause serious health problems in humans and animals. Zearalenone is a secondary metabolite produced by fungi of the genus Fusarium, widely exists in animal feed and human food. One concern with the use of microbial strains and their enzyme derivatives for zearalenone degradation is the potential variability in the effectiveness of the degradation process.

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Background: The aim of the study is to evaluate the efficiency and safety of a novel technique to treat large benign ovarian cysts combining benefits of laparoscopic management along with mini-laparotomy without affection of the ovarian reserve.

Methods: The study included 112 women with large benign ovarian cyst candidate for ovarian cystectomy. The technique started with laparoscopy followed by guided cyst aspiration followed by exteriorization of the ovary through minilaprotomy and completion of cystectomy through microsurgical technique.

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Background: Cerebral venous thrombosis is a rare form of venous stroke with diverse clinical manifestations. Word-finding difficulty (anomia) is rarely reported in patients with cerebral venous thrombosis.

Case Presentation: We report a 30-year-old right-handed Ethiopian female patient, who presented with global headache associated with a new onset word-finding difficulty of 2 weeks duration.

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Eukaryotic transcription requires the assembly of a multisubunit preinitiation complex (PIC) composed of RNA polymerase II (Pol II) and the general transcription factors. The coactivator Mediator is recruited by transcription factors, facilitates the assembly of the PIC, and stimulates phosphorylation of the Pol II C-terminal domain (CTD) by the TFIIH subunit CDK7. Here, we present the cryo-electron microscopy structure of the human Mediator-bound PIC at a resolution below 4 angstroms.

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