KEGG   VARIANT: 51284v2
Entry
51284v2                      Variant                               
Name
TLR7 gain-of-function mutation
Type
Gain of function
Gene
TLR7  toll like receptor 7 [KO:K05404]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300365
Network
nt06517  TLR signaling
Disease
H00080  Systemic lupus erythematosus
Reference
  Authors
Brown GJ, Canete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, Lopez CA, Gonzalez-Murillo A, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG
  Title
TLR7 gain-of-function genetic variation causes human lupus.
  Journal
Nature 605:349-356 (2022)
DOI:10.1038/s41586-022-04642-z
Reference
  Authors
Satterthwaite AB
  Title
TLR7 Signaling in Lupus B Cells: New Insights into Synergizing Factors and Downstream Signals.
  Journal
Curr Rheumatol Rep 23:80 (2021)
DOI:10.1007/s11926-021-01047-1
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