Publications by authors named "Tariq Al Jabry"
LRP4 is expressed in many organs. It mediates SOST-dependent inhibition of bone formation and acts as an inhibitor of WNT signaling. It is also a postsynaptic end plate cell surface receptor at the neuromuscular junction and is central to its development, maintenance, and function.
View Article and Find Full Text PDFSince December 2019, various types of strategies have been applied due to the emergent need to investigate the biology and pathogenesis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) to discover a functional treatment. Different disease modeling systems, such as mini-organ technology, have been used to improve our understanding of SARS-CoV-2 physiology and pathology. During the past 2 years, regenerative medicine research has shown the supportive role of organoid modeling in controlling coronavirus disease 2019 (COVID-19) through optimal drug and therapeutic approach improvement.
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- Next-generation sequencing, like whole-exome sequencing (WES), is often used for studying Mendelian disorders but can yield "negative" results due to incorrect variant analysis.
- Noncoding variants, such as splicing mutations, are commonly overlooked, leading to missed molecular diagnoses.
- A case study of a family with four newborns suffering from severe congenital microcephaly reveals that a reanalysis of WES data uncovered a splice site variant in the asparagine synthetase gene as the likely cause, emphasizing the need to revisit exome data for better gene identification.
Background: was proposed as a disease-causing gene of intellectual disability, spasticity, and parkinsonism.
Objectives: To characterize the clinical phenotype and the molecular cause of intellectual disability in four affected individuals of a consanguineous family.
Methods: Clinical evaluation, whole-exome sequencing, Sanger sequencing, reverse transcription polymerase chain reaction (PCR), real-time PCR, immunoblot, and isoelectric focusing.
High levels of the cold shock protein Y-box-binding protein-1, YB-1, are tightly correlated with increased cell proliferation and progression. However, the precise mechanism by which YB-1 regulates proliferation is unknown. Here, we found that YB-1 depletion in several cancer cell lines and in immortalized fibroblasts resulted in cytokinesis failure and consequent multinucleation.
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