The transition zone: an essential functional compartment of cilia

por Szymanska, Katarzyna, Johnson, Colin A
Publicado 2012

Ciliogenesis and the DNA damage response: a stressful relationship

por Johnson, Colin A., Collis, Spencer J.
Publicado 2016

The Cilium: Cellular Antenna and Central Processing Unit

por Malicki, Jarema J., Johnson, Colin A.
Publicado 2017

Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please

por Smith, Claire E. L., Lake, Alice V. R., Johnson, Colin A.
Publicado 2020

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

por Richardson, Louise, Wang, Dapeng, Hughes, Ruth, Johnson, Colin A., Peckham, Michelle
Publicado 2022

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

por Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.
Publicado 2017

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

por Ghuloum, Fatmah I., Johnson, Colin A., Riobo-Del Galdo, Natalia A., Amer, Mahetab H.
Publicado 2022

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

por Lange, Karen I, Best, Sunayna, Tsiropoulou, Sofia, Berry, Ian, Johnson, Colin A, Blacque, Oliver E
Publicado 2021

Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort

por Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.
Publicado 2022

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

por Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A
Publicado 2021

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

por Abdelhamed, Zakia A., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Christopher F., Toomes, Carmel, Johnson, Colin A., Jagger, Daniel J.
Publicado 2015

Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1

por Szymanska, Katarzyna, Boldt, Karsten, Logan, Clare V, Adams, Matthew, Robinson, Philip A, Ueffing, Marius, Zeqiraj, Elton, Wheway, Gabrielle, Johnson, Colin A
Publicado 2022

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

por Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
Publicado 2019

Renal Cystic Disease Proteins Play Critical Roles in the Organization of the Olfactory Epithelium

por Pluznick, Jennifer L., Rodriguez-Gil, Diego J., Hull, Michael, Mistry, Kavita, Gattone, Vincent, Johnson, Colin A., Weatherbee, Scott, Greer, Charles A., Caplan, Michael J.
Publicado 2011

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

por Elpidorou, Marilena, Poulter, James A., Szymanska, Katarzyna, Baron, Wia, Junger, Katrin, Boldt, Karsten, Ueffing, Marius, Green, Lydia, Livingston, John H., Sheridan, Eammon G., Johnson, Colin A.
Publicado 2022

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

por Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon RR, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Publicado 2012

Characterization of Primary Cilia in Normal Fallopian Tube Epithelium and Serous Tubal Intraepithelial Carcinoma

por Abdelhamed, Zakia A., Ryan, Thomas A., Fuller, Martin, Coulson-Gilmer, Camilla, Abdelmottaleb, Dina I., Wang, Tian-Li, Kaun, Jen-Chun, Wang, Peiyi, Hutson, Richard, Wilkinson, Nafisa, Bell, Sandra M., Johnson, Colin A.
Publicado 2018

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

por Molinari, Elisa, Decker, Eva, Mabillard, Holly, Tellez, James, Srivastava, Shalabh, Raman, Shreya, Wood, Katrina, Kempf, Caroline, Alkanderi, Sumaya, Ramsbottom, Simon A., Miles, Colin G., Johnson, Colin A., Hildebrandt, Friedhelm, Bergmann, Carsten, Sayer, John A.
Publicado 2018

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

por Panagiotou, Evangelia S., Fernandez-Fuentes, Narcis, Farraj, Layal Abi, McKibbin, Martin, Elçioglu, Nursel H., Jafri, Hussain, Cerman, Eren, Parry, David A., Logan, Clare V., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Publicado 2022

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

por Best, Sunayna, Lord, Jenny, Roche, Matthew, Watson, Christopher M, Poulter, James A, Bevers, Roel P J, Stuckey, Alex, Szymanska, Katarzyna, Ellingford, Jamie M, Carmichael, Jenny, Brittain, Helen, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A, Wheway, Gabrielle
Publicado 2022