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Gaffney, Patrick
One or more keywords matched the following items that are connected to Gaffney, Patrick
Item TypeName
Concept Genetic Diseases, Inborn
Academic Article Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
Academic Article A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.
Academic Article Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12.
Academic Article Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.
Academic Article Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Academic Article Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Academic Article A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.
Academic Article Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
Academic Article Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.
Grant ISOLATION OF A HUMAN SLE SUSCEPTIBILITY GENE ON CHROMOSO
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  • Genetic Diseases Inborn