Search Results - defect

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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
A Human Progenitor Mast Cell Line for Allergic and Fibrotic Research and Therapeutic Screening
Hermansky-Pudlak Syndrome type-1 (HPS-1) is a rare genetic disorder that affects around 1 in 500,000 people worldwide and 1 in 1,800 Puerto Ricans. Patients with HPS-1 display oculocutaneous albinism, bleeding due to platelet abnormality, and pulmonary fibrosis. Those that develop pulmonary fibrosis often succumb and live no more than a decade after...
Published: 10/28/2024   |   Inventor(s): Dean Metcalfe, Arnold Kirshenbaum
Keywords(s): 16bp, c.1470-1486dup16, Cell, Cells, Cloning, Defect, DUPLICATION, EXPANSION, Expressing, FceRI, Hermansky, HPM, HPS1, Human, Immature, KNOWN, Line, Promastocyte, Pudlak, RECEPTORS, Syndrome-1
Category(s): Collaboration Sought > Collaboration