July 31, 2024 by Rhiannon Koch, University of Adelaide Credit: The American Journal of Human Genetics (2024). DOI: 10.1016/j.ajhg.2024.06.018A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide. Currently, conditions caused by a significant...
by UT Southwestern Medical Center Credit: Pixabay/CC0 Public Domain A new type of developmental disability caused by mutations in a gene known as CBX1 has been discovered by a UT Southwestern Medical Center researcher and his colleagues. The findings, reported in Genetics in Medicine, offer insight into the role this gene plays in development and could eventually...
by Susan Murphy, Mayo Clinic Individuals with KCNK9 imprinting syndrome. A KCNK9 coding exons showing all variants by predicted protein change using ProteinPaint (St. Jude Children’s Research Hospital). The number in the circle represents the number of families described with the variant, no number = 1 family. Previously published variants are gray. B TASK3 protein topology schematic...
by University of Maryland School of Medicine Human cells with AP1G1 protein (green) found in vesicles overlapping (yellow) a protein found on vesicles (red). The nucleus (blue) and cell skeleton (white) are also labeled in the cells. Credit: Dr. Riazuddin University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked...
