Article
The COL6A5-p.Glu2272* mutation induces chronic itch in mice.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2024
Rasheed Ameer Abu Bakr, Birling Marie-Christine, Lauria Giuseppe, Gaveriaux-Ruff Claire, Herault Yann
Abstract excerpt
Pruritus is a common irritating sensation that provokes the desire to scratch. Environmental and genetic factors contribute to the onset of pruritus. Moreover, itch can become a major burden when it becomes chronic. Interestingly, the rare Collagen VI alpha 5 (COL6A5) gene variant p.Glu2272* has been identified in two families and an independent patient with chronic neuropathic itch. These patients showed reduced...
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