The Films of Joseph H. Lewis

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease.

Wilkinson, Joseph Brooke (1870–1948)

Profile and biographical entry of Joseph Brooke Wilkinson, early film Censor

Joseph Priestley: the man who drew time

The Joseph Priestley House Museum at Northumberland, Pennsylvania became interested in Priestley's pioneering timelines as a complement to his better known work in chemistry, electricity, biblical scholarship and political radicalism. Boyd Davis wrote this short article for the newsletter published by the Friends of the museum. The article concentrates on the connections between Priestley, his French contemporary Barbeu-Dubourg and Benjamin Franklin at the time of the struggle for American Independence, and Priestley's two key chronographic innovations: the use of drawn or printed lines to represent the duration of lives, and the associated use of dots to show when the dates of such lives are in doubt or dispute. Keywords: timeline, chronographics

Indenture deed between Calvin Spencer, Joseph Kershaw, and John Chestnut

This document is an indenture deed between Calvin Spencer, Joseph Kershaw, and John Chestnut.

Development of triplet repeat primed PCR (TP-PCR) technique as a support of molecular test in Machado-Joseph disease

Dissertação de Mestrado, Ciências Biomédicas, 3 de Fevereiro de 2016, Universidade dos Açores.