Colin A. Johnson

Overview

Best Publications

• Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

  Xinsheng Nan;Huck-Hui Ng;Colin A. Johnson;Carol D. Laherty

  4240
  Citations

• MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex.

  Huck-Hui Ng;Yi Zhang;Brian Hendrich;Colin A Johnson

  1169
  Citations

• PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

  Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory

  582
  Citations

• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  Marion Delous;Lekbir Baala;Rémi Salomon;Christine Laclef;Christine Laclef

  564
  Citations

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  431
  Citations

• Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  421
  Citations

• The Cilium: Cellular Antenna and Central Processing Unit

  Jarema J. Malicki;Colin A. Johnson

  412
  Citations

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  404
  Citations

• Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

  Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  396
  Citations

• Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and Ciliogenesis

  Su Kyoung Kim;Asako Shindo;Tae Joo Park;Tae Joo Park;Edwin C. Oh

  389
  Citations

• Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

  Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry

  376
  Citations

• IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

  Philip L Beales;Elizabeth Bland;Jonathan L Tobin;Chiara Bacchelli

  363
  Citations

• Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

  Victoria H. Castleman;Leila Romio;Rahul Chodhari;Robert A. Hirst

  359
  Citations

• Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

  P Gissen;P Gissen;C A Johnson;N Morgan;J M Stapelbroek

  359
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  332
  Citations

• The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat

  Ursula M Smith;Mark Consugar;Louise J Tee;Brandy M McKee

  332
  Citations

• The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

  Helen R. Dawe;Ursula M. Smith;Andrew R. Cullinane;Dianne Gerrelli

  319
  Citations

• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

  Hemant Khanna;Erica E Davis;Carlos A Murga-Zamalloa;Alejandro Estrada-Cuzcano

  314
  Citations

• Mutations in TJP2 cause progressive cholestatic liver disease

  Melissa Sambrotta;Sandra Strautnieks;Efterpi Papouli;Peter Rushton

  286
  Citations