Human Molecular Genetics Archives
Gene network linked to Type 2 diabetes
May. 5, 2022—Vanderbilt researchers used a novel analytical approach to identify a network of genes associated with Type 2 diabetes, including 31 genes that had not previously been associated with the disease.
Genetic clues in eye birth defect
Feb. 18, 2021—Sabine Fuhrmann and colleagues have discovered a novel underlying cause of coloboma — a birth defect that causes missing tissue in the eye and accounts for up to 10% of childhood blindness.
Aqueous humor, microRNAs and glaucoma
Apr. 10, 2018—New findings highlight microRNAs — molecules that regulate gene expression — that are differentially expressed in glaucoma and could be candidate biomarkers or targets for therapy.
Study reveals possible ‘dimmer switch’ drug for Rett syndrome
Mar. 3, 2016—Researchers at Vanderbilt University Medical Center have relieved symptoms in a mouse model of Rett syndrome with a drug-like compound that works like the dimmer switch in an electrical circuit.
Factor’s role in long bone development
Jul. 31, 2013—Insight into how the protein neurofibromin participates in the signaling pathway that produces the body’s long bones has implications for fracture healing in some patients.
Clues to flattened faces
Jan. 5, 2012—Mutations in the Jagged1 gene cause Alagille syndrome, an inherited disorder that affects the liver, heart, kidneys and facial structure. Patients with Alagille syndrome often have a prominent forehead, a flattened midface and a prominent chin; some have a cleft palate. To investigate how mutations in Jagged1 cause facial anomalies, Steven Goudy, M.D., and colleagues...
