Colin A. Johnson

ORCID: 0000-0002-2979-8234
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About
Contact & Profiles
Research Areas
  • Genetic and Kidney Cyst Diseases
  • Renal and related cancers
  • Genetic Syndromes and Imprinting
  • Hedgehog Signaling Pathway Studies
  • Metabolism and Genetic Disorders
  • Epigenetics and DNA Methylation
  • Protist diversity and phylogeny
  • Cardiac Arrhythmias and Treatments
  • Retinal Development and Disorders
  • RNA modifications and cancer
  • Adrenal Hormones and Disorders
  • Mitochondrial Function and Pathology
  • Cellular transport and secretion
  • Microtubule and mitosis dynamics
  • Erythrocyte Function and Pathophysiology
  • RNA regulation and disease
  • Genomics and Rare Diseases
  • Liver Disease Diagnosis and Treatment
  • Amino Acid Enzymes and Metabolism
  • Dermatological and Skeletal Disorders
  • Lysosomal Storage Disorders Research
  • Connective tissue disorders research
  • Biochemical and Molecular Research
  • RNA Research and Splicing
  • Congenital Heart Disease Studies

University of Leeds
2016-2025

St James's University Hospital
2014-2025

University of California, Los Angeles
2025

Vanda Pharmaceuticals (United States)
2024

University of Southampton
2013-2022

Emory Healthcare
2021

Wellcome Trust
2008-2019

State University of New York
2019

SUNY Downstate Health Sciences University
2019

University of Hull
2018

The planar cell polarity (PCP) signaling pathway governs collective movements during vertebrate embryogenesis, and certain PCP proteins are also implicated in the assembly of cilia. septins cytoskeletal controlling behaviors such as division migration. Here, we identified control septin localization by protein Fritz a crucial point for both movement ciliogenesis Xenopus embryos. We linked mutations human to Bardet-Biedl Meckel-Gruber syndromes, notable link given that other genes mutated...

10.1126/science.1191184 article EN Science 2010-07-30

Abstract Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations ubiquitously expressed genes non-syndromic retinal disease. Here, we generate transcriptome profiles from RP11 ( PRPF31 -mutated) patient-derived organoids and pigment epithelium (RPE), as well Prpf31 +/− mouse tissues, which revealed that disrupted alternative splicing occurred for specific programmes. Mis-splicing of encoding proteins was limited to...

10.1038/s41467-018-06448-y article EN cc-by Nature Communications 2018-10-08

Meckel–Gruber syndrome (MKS) is an autosomal recessive lethal malformation characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two MKS genes, MKS1 MKS3 , have been identified recently. The present study describes the cellular, sub-cellular functional characterization of novel proteins, meckelin, encoded these genes. In situ hybridization studies for in early human embryos showed...

10.1093/hmg/ddl459 article EN Human Molecular Genetics 2006-12-21
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