Daniel G. MacArthur

TL;DR: It is suggested that reducing IGF2 isoform 2 expression in relevant tissues has potential as a new therapeutic strategy for T2D, even beyond the Latin American population, with no major adverse effects on health or reproduction.

TL;DR: Targeted sequencing is used to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease and demonstrates that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of

TL;DR: TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance are identified and defined as an integral component of the evolutionarily conserved retrograde IFT machinery.

TL;DR: The phenotypic spectrum of GMPPB mutations is expanded to include limb-girdle muscular dystrophies with adult onset with or without intellectual disability, or isolated rhabdomyolysis.

TL;DR: Genotype differences in intrinsic exercise performance, fast muscle force generation and male muscle mass were lost in aged mice, but were maintained for other muscle function traits such as grip strength, providing further support that α-actinin-3 deficient individuals may experience faster decline in muscle function with increasing age.