research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions 4 citations , January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) 9 citations , January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Novel synthesis of nicotinamide derivatives of cytotoxic properties 51 citations , March 2006 in “Bioorganic & Medicinal Chemistry” Newly made nicotinamide compounds could potentially treat cancer.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation 6 citations , August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Perspectives of Kennedy's disease 65 citations , September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.