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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFAssessment of Simplified Surveillance for Congenital Rubella Syndrome in Sudan, 2014-2017.
Vaccines (Basel)
December 2024
Global Immunization Division, United States Centers for Disease Control and Prevention, Atlanta, GA 30329, USA.
Background/objectives: Congenital rubella syndrome (CRS) is a constellation of serious multi-organ birth defects following rubella virus infection during early pregnancy. Countries in which rubella vaccination has not yet been introduced can have a high burden of this disease. Data on CRS burden and epidemiology are needed to guide the introduction of a rubella vaccine and monitor progress for rubella elimination, but the multi-system nature of CRS manifestations and required specialized testing creates a challenge for conducting CRS surveillance in developing settings such as Sudan.
View Article and Find Full Text PDFMicrobiological Evaluation of Local and Imported Raw Beef Meat at Retail Sites in Oman with Emphasis on Spoilage and Pathogenic Psychrotrophic Bacteria.
Microorganisms
December 2024
Applied Biotechnology Department, University of Technology and Applied Sciences, P.O. Box 411, Sur 411, Oman.
Determining the microbial quality and safety of meat is crucial because of its high potential to harbor pathogens. To address the critical knowledge gap and shed light on potential contamination risk in the meat supply chain, this study aimed to assess the underexplored microbial quality and safety of marketed beef meat in Oman. Thirty-three beef meat samples from six hypermarkets were analyzed for Aerobic Plate Count (APC), Psychrotrophic Bacteria Count (PBC), and coliform and counts.
View Article and Find Full Text PDFCoats' disease in adulthood with preserved vision after intravitreal aflibercept injection combined with laser photocoagulation : a case report.
BMC Ophthalmol
January 2025
Vitreoretinal Surgery Department, Hugo Chavez Hospital, Turmus Ayya, State of Palestine.
Background: This case report describes a rare case of Coats disease in adult female patient with preserved vision after intravitreal Aflibercept injection and laser photocoagulation.
Case Presentation: A female patient of Asian Palestinian descent, aged 20, exhibited a progressive and painless deterioration in the vision of her left eye over a period of two weeks. She exhibited no additional ocular symptoms.
Highly Selective and Sensitive Visual Detection of Fe using a Simple Quinazoline-Based Colorimetric Sensor.
J Fluoresc
January 2025
Department of Basic Sciences, Sari University of Agricultural Sciences and Natural Resources, P.O.Box 578, Sari, Iran.
Among the various cations, the Fe ion is one of the most critical transition metal ions in living cells for many cellular functions and enzymatic activities. The decrease or overloading of Fe can lead to different disruptions in humans. Also, Fe, highly toxic, is very common in all industrial wastewater.
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