Publications by authors named "Alharbi Meshael"
Background: Neuron navigator 3 (NAV3) is characterized as one of the neuron navigator family (NAV1, NAV2, NAV3) proteins predominantly expressed in the nervous system. The NAV3-encoded protein comprises a conserved AAA and coiled-coil domains characteristic of ATPases, which are associated with different cellular activities.
Methods: We describe a Saudi proband presenting a complex recessive neurodevelopmental disorder (NDD).
Recently, high-throughput next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidies techniques came into use. This technique is essential for successful embryo transfer and accomplishing pregnancy, thus reducing the time and cost of additional cycles. In this study, we describe our first experience in introducing an NGS-based preimplantation genetic testing for aneuploidy (PGT-A) service using next-generation sequencing in King Abdulaziz Medical City located in Riyadh, Saudi Arabia.
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- Primary Ciliary Dyskinesia (PCD) is an autosomal recessive disorder affecting cilia function, leading to respiratory issues in children, with increasing understanding through genetic testing.
- A case study of two siblings with PCD revealed a specific genetic variant in the NEK10 gene associated with the disorder, supported by whole exome sequencing and protein analysis.
- The findings emphasize the importance of NEK10 in cilia assembly and highlight the difficulties in pinpointing genetic causes in diverse disorders like PCD.