Technical Reference #327

327.

Defective Trafficking And Cell Death Is Characteristic Of Skin Disease-Associated Connexin 31 Mutations Di; WL.; Monypenny; J.; Common; J.; Kennedy; C.; Holland; K.; Leigh; I.; Rugg; E.; Zicha D.; and Kelsell ; D. Centre for Cutaneous Research; Barts and the London School of Medicine and Dentistry; Queen Mary; University of London; Whitechapel; Lo, University of London, Human Molecular Genetics, 11(327), (2002)
Link To Paper

Abstract:
Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy. Here we describe a number of functional analyses to

Materials & Methods:
"After reaching confluence cells were plated on 35 mm glass-bottom microwell dishes (MatTek Ashand MA USA) for microinjection" … "NEB1 keratinocytes and NIH 3T3 fibroblasts were seeded in MatTek dishes and allowed 3 days to grow to near con-fluency. C

Microscopic Technique
Fluorescence Microscopy

Cell Type(s)
3T3