Tag: pathogenic

New Study Provides Insight for Variability in the Severity of Alport Syndrome

Alport syndrome is an inherited disease characterized by progressive loss of kidney function, hearing loss, and eye abnormalities. The syndrome is caused by genetic mutations that affect expression and/or function of the type IV collagen family protein isoforms COL4A3, COL4A4, and COL4A5, which help form the glomerular basement membranes. The onset, symptoms, progression, and severity […]

Dr. Feng Chen and Colleague Awarded $2.2M NIH R01 Grant

Feng Chen, PhD, Associate Professor of Medicine in the Division of Nephrology and Cell Biology and Physiology, along with his collaborator Li Ding, PhD, Associate Professor of Medicine (Oncology Division), have been awarded a four-year, $2.2 million R01 grant from the NIH National Human Genome Research Institute (NHGRI) to fund a research project titled Pathogenic […]