Publications by authors named "J F Rozet"
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.
View Article and Find Full Text PDFOcular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be associated with additional ocular abnormalities. It can occur in isolation or as part of a broader syndrome, exhibiting considerable genetic heterogeneity.
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- Congenital microcoria (MCOR) is a rare genetic condition linked to issues like severe nearsightedness and glaucoma, caused by changes in a specific chromosome region.
- Researchers developed a 3D model of chromosome 13q32.1, showing how deletions disrupt important genetic boundaries, leading to altered gene expression that affects iris development.
- The study also identified a connection between SOX21 and the TGFB2 gene, highlighting their roles in eye development and conditions like glaucoma and myopia, which impact a large population.
Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within a Chilean cohort (67 patients/60 families). Leveraging panel sequencing, 95.
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- There are about 8,000 rare diseases that affect around 400 million people, with many not getting diagnosed quickly.
- Ciliopathies, a type of rare disease, are hard to diagnose because they have many different symptoms and genetic causes.
- The study tested three online systems that help diagnose these diseases using patient records, but they didn't perform as well as expected and highlighted the need for better tools and data quality.