Table 4.

Thirteen circulating proteins identified as dysregulated in FSHD plasma via LC-MS/MS.

Gene Name	UniProt ID	↑ or ↓	p-Value	Known Roles in Muscle/Disease
F13A1	P00488	↑	0.031	Hypertension, angiotensin II, coagulation
IGF1	P05019	↑	0.043	hypertrophy, development, satellite cells, regeneration
S100A8	P05109	↑	0.009	TLR4; pro-inflammation, up in rheumatic diseases [84,85,86,87]
PFN1	P07737	↑	0.010	actin cytoskeleton organization
FBLN1	p23142	↑	0.011	positive regulation of fibroblast proliferation
CFL1	P23528	↑	0.031	actin filament organization and depolymerization
TMSB4X	P62328	↑	0.017	actin filament organization
TPM4	P67936	↑	0.015	actin organization, muscle contraction
EFEMP1	Q12805	↑	0.001	plasma biomarker for mesothelioma; retinal dystrophy [88]
KRT16	P08779	↑	0.009	elevated with S100A8 in skin disorders, psoriasis [85,89,90,91]
SPP2	Q13103	↑	0.017	pro-inflammatory, NF-κB; blood pressure; bone health [92]
PROC	P04070	↓	0.048	anti-inflammatory, down in chronic inflammation [93,94]
PRG4	Q92954	↓	0.024	TLR4; anti-inflammatory, down in arthritis [95,96]

CFL1 = Cofilin 1, EFEMP1 = EGF-containing fibulin-like extracellular matrix protein 1, F13A1 = Coagulation factor XIII A chain, FBLN1 = fibulin-1, IBD = inflammatory bowel disease, IGFI = insulin-like growth factor 1, KRT16 = Keratin 16, PFN1 = Profilin-1, PRG4 = Proteoglycan 4 or lubricin, PROC = Protein C, S100A8 = S100 calcium-binding protein A8, SPP2 = Secreted phosphoprotein 24, TLR4 = Toll-like receptor 4, TMSB4X = Thymosin beta-4, TPM4 = Tropomyosin alpha-4 chain.