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Article
Open AccessStructural insights into IL-11-mediated signalling and human IL6ST variant-associated immunodeficiency
IL-11 and IL-6 activate signalling via assembly of the cell surface receptor gp130; however, it is unclear how signals are transmitted across the membrane to instruct cellular responses. Here we solve the cryo...
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Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Eli Sprecher, Kathleen Green and colleagues show that biallelic mutations in DSG1 cause a syndrome featuring severe dermatitis, multiple allergies and metabolic wasting. The mutations abolish expression of desmog...
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Article
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Irwin McLean and colleagues report that heterozygous loss-of-function mutations in AAGAB, which encodes a cytosolic protein implicated in vesicular trafficking, cause punctate palmoplantar keratoderma. They furth...
