Publications by authors named "Saad El Riati"
Article Synopsis
- The study identifies a specific mutation that results in azoospermia due to defects in spermatogenesis, particularly the absence of meiotic cells in male patients.
- It highlights the roles of SCAPER and Ssp3 in microtubule dynamics during male meiosis, showing that their absence leads to failure in chromosome segregation and cytokinesis.
- The findings suggest similarities in meiotic processes between humans and the studied model organism, emphasizing the importance of these proteins in male fertility.
Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression. Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa.
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