https://www.bbc.co.uk/news/articles/cx2gky52p5qo
"About 15 years ago, Tim Holt-Wilson noticed a "gradual degeneration" in the warmth of his fingers.
The 66-year-old, who lives near Eye, in Suffolk, had already been diagnosed with the autoimmune condition Scleroderma - which caused stiff skin...
"Raynaud phenomenon: from GWAS to drug repurposing" - 2024
"The identification of novel risk variants in the largest genome-wide association study of Raynaud phenomenon to date provides insights into the pathophysiology of the condition, including the potential role for α2A-adrenoceptors, and...
Abstract
Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers, but despite its high reported heritability, no causal genes have been robustly identified.
We conducted a genome-wide association study including 5,147 RP cases and 439,294 controls, based...
Abstract
Raynaud's syndrome is a common dysautonomia where exposure to cold increases the vascular tone of distal arteries causing vasoconstriction and hypoxia particularly in the extremities. Current treatment options are limited and unspecific. Biological mechanisms leading to the phenotype...
Venous insufficiency and acrocyanosis in long COVID: dysautonomia
A 33-year-old man was referred to our specialist clinic with a 6-month history of a rapid purple discolouration of his legs on standing; he reported that his legs would progressively feel heavy, tingly, itchy, and become dusky in...
Genome-wide association study identifies ADRA2A and IRX1 as novel risk genes for Raynaud’s phenomenon
Background Raynaud’s phenomenon (RP) is a common vasospastic disorder that causes severe pain and ulcers in fingers and toes triggered by cold or emotional stress. Despite its high reported...
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