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List of works by Colin A. Johnson

Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells

scientific article published on 01 March 2022

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

Distinctive patterns of histone H4 acetylation are associated with defined sequence elements within both heterochromatic and euchromatic regions of the human genome ⬇️

scientific article published on February 15, 1998

From mesenchymal niches to engineered in vitro model systems: Exploring and exploiting biomechanical regulation of vertebrate hedgehog signalling

scientific article published in 2022

Human Class I Histone Deacetylase Complexes Show Enhanced Catalytic Activity in the Presence of ATP and Co-immunoprecipitate with the ATP-dependent Chaperone Protein Hsp70 ⬇️

scientific article (publication date: 15 March 2002)

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

scientific article published on 12 July 2018

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans

scientific article published on 01 May 2022

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes ⬇️

scientific article published on May 1, 2003

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

scientific article published on 22 June 2020

RNA-Seq analysis of a Pax3-expressing myoblast clone in-vitro and effect of culture surface stiffness on differentiation

scientific article published on 18 February 2022

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

scientific article published on 01 April 2019

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