Search Results - david+adams

2 Results

Sort By:

Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation

Abstract: Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. Certain forms of albinism are known to be due to mutations in tyrosine...

Published: 4/8/2024 | Inventor(s): Brian Brooks, William Gahl, David Adams

Keywords(s): achromasia, achromatosis, achromia, Albinism, Nitisinone, Ocular disorders, pigmentation

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Opthamology, TherapeuticArea > Eye / Ear / Nose / Throat

Human Cell Lines with Mannosyl Oligosaccharide Glucosidase (MOGS) Defect for the Study and Prevention of Infection

This technology includes human cell lines from patients who have genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase, causing the rare congenital disorder of glycosylation type IIb, also known as MOGS-CDG. This defects appears to impair the ability of viruses to infect a second round of cells, which can be used to study and...

Published: 10/28/2024 | Inventor(s): Cynthia Tifft, Sergio Rosenzweig, David Adams, Lynne Wolfe, William Gahl

Keywords(s): Cell, Defect, GLYCOPROTEIN, Glycosidase, Human, Lines, Mannosyl, MOG, MOGS, MYELIN, Oligodendrocyte, Olygosaccharide, VLXXXX, VPXXXX, WIXXXX

Category(s): TherapeuticArea > Endocrinology, TherapeuticArea > Infectious Disease, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, Application > Research Materials