Publications by authors named "Glentino Rodrigues Pinto Osorio"
Hum Mol Genet
September 2018
Article Synopsis
- Genomics methods have greatly enhanced the understanding of Mendelian disorders, especially when combined with high-throughput functional-omics technologies, leading to better identification of genetic variants in families with recessive inheritance.
- In a study of 99 individuals with abnormal Golgi glycosylation, 31 cases underwent whole-exome sequencing, revealing a known defect in 15 individuals, while unique glycomics signatures helped identify four patients with shared genetic markers.
- Affected siblings had mutations in the SLC10A7 gene, leading to conditions like amelogenesis imperfecta and skeletal dysplasia, with studies in zebrafish and fibroblasts showcasing the gene's crucial role in bone mineralization and glycoprotein transport.
