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UK Cilia Network

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Publications

The following journal publications from the members of the UK cilia network and others based in the UK with a specific cilia focus. (Note we plan to update this infomation based on Google Scholar)

 

2017

  • Dynamics of cilia length in left-right development. Pintado P, Sampaio P, Tavares B, Montenegro-Johnson TD, Smith DJ, Lopes SS. R Soc Open Sci. 2017 Mar 8;4(3):161102.

  • Nonlinear amplitude dynamics in flagellar beating. Oriola D, Gadêlha H, Casademunt J. R Soc Open Sci. 2017 Mar 8;4(3):160698.

  • Intraflagellar transport dynein is autoinhibited by trapping of its mechanical and track-binding elements.Toropova K, Mladenov M, Roberts AJ. Nat Struct Mol Biol. 2017

  • A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies. Banks G, Lassi G, Hoerder-Suabedissen A, Tinarelli F, Simon MM, Wilcox A, Lau P, Lawson TN, Johnson S, Rutman A, Sweeting M, Chesham JE, Barnard AR, Horner N, Westerberg H, Smith LB, Molnár Z, Hastings MH, Hirst RA, Tucci V, Nolan PM. Mol Psychiatry. 2017

  • KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability. Yeyati PL, Schiller R, Mali G, Kasioulis I, Kawamura A, Adams IR, Playfoot C, Gilbert N, van Heyningen V, Wills J, von Kriegsheim A, Finch A, Sakai J, Schofield CJ, Jackson IJ, Mill P. J Cell Biol. 2017 Apr 3;216(4):999-1013.

  • Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C. Am J Respir Crit Care Med. 2017

  • X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group., Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Nat Commun. 2017

  • Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Macia MS, Halbritter J, Delous M, Bredrup C, Gutter A, Filhol E, Mellgren AE, Leh S, Bizet A, Braun DA, Gee HY, Silbermann F, Henry C, Krug P, Bole-Feysot C, Nitschké P, Joly D, Nicoud P, Paget A, Haugland H, Brackmann D, Ahmet N, Sandford R, Cengiz N, Knappskog PM, Boman H, Linghu B, Yang F, Oakeley EJ, Saint Mézard P, Sailer AW, Johansson S, Rødahl E, Saunier S, Hildebrandt F, Benmerah A. Am J Hum Genet. 2017 Feb 2;100(2):323-333.

  • The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase. Al-Jassar C, Andreeva A, Barnabas DD, McLaughlin SH, Johnson CM, Yu M, van Breugel M. Structure. 2017 Jan 3;25(1):146-156

  • BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity. Munye MM, Shoemark A, Hirst RA, Delhove JM, Sharp TV, McKay TR, O'Callaghan C, Baines DL, Howe SJ, Hart SL. Am J Physiol Lung Cell Mol Physiol. 2017 Feb 1;312(2):L258-L267.

  • Motile and non-motile cilia in human pathology: from function to phenotypes. Mitchison HM, Valente EM. J Pathol. 2017 Jan;241(2):294-309.

  • Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O'Driscoll M.Hum Mol Genet. 2017 Jan 1;26(1):19-32.

  • The Cilium: Cellular Antenna and Central Processing Unit. Malicki JJ, Johnson CA.Trends Cell Biol. 2017 Feb;27(2):126-140. 

 

2016

  • Grimes DT, Keynton JL, Buenavista MT, Jin X, Patel SH, Kyosuke S, Vibert J, Williams DJ, Hamada H, Hussain R, Nauli SM, Norris DP (2016) Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. PLoS Genet 12(6): doi:10.1371/journal.pgen.1006070

  • Norris DP, Jackson PK. (2016) Cell biology: Calcium contradictions in cilia. Nature. 531(7596):582-3.

  • Johnson CA, Collis SJ. (2016) Ciliogenesis and the DNA damage response: a stressful relationship. Cilia. 5:19. doi: 10.1186/s13630-016-0040-6.

  • Pooranachandran N, Malicki JJ. (2016) Unexpected Roles for Ciliary Kinesins and Intraflagellar Transport Proteins. Genetics. 203(2):771-85

  • Rowson D, Knight MM and Screen HR (2016). Zonal variation in primary cilia elongation correlates with localised biomechanical degradation in stress deprived tendon. Journal of Orthopaedic Research 10.1002/jor.23229

  • Tabler JM, Rice CP, Liu KJ, Wallingford J. (2016) A novel ciliopathic skull defect arising from excess neural crest. Dev Biol. doi: 10.1016/j.ydbio.2016.07.001.

  • Wang Z, Wann AKT, Thompson CL, Hassen A, Wang W and Knight MM (2016). IFT88 influences chondrocyte actin organization and biomechanics. Osteoarthritis and Cartilage  vol. 24, (3) 544-554.10.1016/j.joca.2015.10.003

  • Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. (2016) The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. 

  • Thompson CL, Wiles A, Poole CA and Knight MM. Lithium chloride modulates chondrocyte primary cilia and inhibits Hedgehog signaling. Faseb Journal : Official Publication of The Federation of American Societies For Experimental Biology. 2016.  10.1096/fj.15-274944

  • Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. (2016) MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 53(1):62-72.

  • Parfitt DA, Lane A, Ramsden CM, Carr AJ, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME. (2016) Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell. 18(6):769-81. doi: 10.1016/j.stem.2016.03.021.

2015

  • Dalbay MT, Thorpe SD, Connelly JT, Chapple JP, Knight MM. Adipogenic Differentiation of hMSCs is Mediated by Recruitment of IGF-1r Onto the Primary Cilium Associated With Cilia Elongation. Stem Cells. 2015 (6): 1952-61.
  • Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TMT, Racher H, Beales PL et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 (8): 1074-U483.
  • Wang Z, Wann AK, Thompson CL, Hassen A, Wang W and Knight MM. IFT88 influences chondrocyte actin organization and biomechanics. Osteoarthritis and Cartilage. 2015. 10.1016/j.joca.2015.10.003
  • Thompson CL, Patel R, Kelly TAN, Wann AKT, Hung CT, Chapple JP and Knight MM. Hedgehog signalling does not stimulate cartilage catabolism and is inhibited by Interleukin-1ß. Arthritis Research and Therapy. 2015. vol. 17, (1) 10.1186/s13075-015-0891-z
  • Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Beales PL et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015 (3): 147-56.
  • Arnandis T, Godinho SA. Studying centrosome function using three-dimensional cell cultures. Method Cell Biol. 2015: 37-50.
  • Shoemark A, Dixon M, Beales PL, Hogg CL. Bardet Biedl Syndrome Motile Ciliary Phenotype. Chest. 2015 (3): 764-70.
  • Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Beales PL et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015 (5): 1410-9.
  • Schmidts M, Hou YQ, Cortes CR, Mans DA, Huber C, Boldt K, Beales PL et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015-6.
  • Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 (1): 230-42.
  • Hidalgo-de-Quintana J, Schwarz N, Meschede IP, Stern-Schneider G, Powner MB, Morrison EE, Cheetham ME et al. The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium. Plos One. 2015 (3).
  • Benmerah, A., Durand, B., Giles, R. H., Harris, T., Kohl, L., Laclef, C., . . . Bastin, P. (2015). The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies. Cilia, 4, 5-?. doi:10.1186/s13630-015-0014-0

2014

  • Wann AKT, Chapple JP, Knight MM. The primary cilium influences interleukin-1 beta-induced NF kappa B signalling by regulating IKK activity. Cell Signal. 2014 (8): 1735-42.
  • Thompson CL, Chapple JP, Knight MM. Primary cilia disassembly down-regulates mechanosensitive hedgehog signalling: a feedback mechanism controlling ADAMTS-5 expression in chondrocytes. Osteoarthr Cartilage. 2014 (3): 490-8.
  • Irianto J, Ramaswamy G, Serra R, Knight MM. Depletion of chondrocyte primary cilia reduces the compressive modulus of articular cartilage. J Biomech. 2014 (2): 579-82.
  • Su XF, Driscoll K, Yao G, Raed A, Wu MQ, Beales PL, et al. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Hum Mol Genet. 2014 (20): 5441-51.
  • Osborn DPS, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Beales PL et al. Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies. Plos One. 2014 (2).
  • Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Beales PL et al. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Hum Mol Genet. 2014 (13): 3362-74.
  • Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, et al. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J Med Genet. 2014 (1): 61-7.
  • Goggolidou P, Hadjirin NF, Bak A, Papakrivopoulou E, Hilton H, Norris DP, et al. Atmin mediates kidney morphogenesis by modulating Wnt signaling. Hum Mol Genet. 2014 (20): 5303-16.
  • Goggolidou P, Stevens JL, Agueci F, Keynton J, Wheway G, Grimes DT, Norris DP et al. ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis. Development. 2014 (20): 3966-77.
  • Chen DD, Norris D, Ventikos Y. Chemosignalling, mechanotransduction and ciliary behaviour in the embryonic node: Computational evaluation of competing theories. P I Mech Eng H. 2014 (5): 465-76.
  • Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Mitchison HM et al. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation. Am J Hum Genet. 2014 (3): 257-74.
  • Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C, et al. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child. 2014 (9): 850-6.
  • Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Mitchison HM et al. HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. Plos Genet. 2014 10(9).
  • Boon M, Wallmeier J, Ma LN, Loges NT, Jaspers M, Olbrich H, Mitchison HM et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014: 5.

2013

  • McMurray RJ, Wann AKT, Thompson CL, Connelly JT, Knight MM. Surface topography regulates wnt signaling through control of primary cilia structure in mesenchymal stem cells. Sci Rep-UK. 2013;3.
  • Knight MM. The Role of Primary Cilia in Cartilage Health and Disease. Osteoarthr Cartilage. 2013: S2-S.
  • Hernandez-Hernandez V, Pravincumar P, Diaz-Font A, May-Simera H, Jenkins D, Knight MM, et al. Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum Mol Genet. 2013 (19): 3858-68.
  • Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM, et al. Centriole distal appendages promote membrane docking, leading to cilia initiation. Gene Dev. 2013 (2): 163-8.
  • Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 (9): 995.
  • Halbritter J, Bizet AA, Schmidts M, Porath JD, Mitchison HM, Braun DA, Gee HY, et al. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. Am J Hum Genet. 2013 (5): 915-25.

2012

  • Wann AKT, Zuo N, Haycraft CJ, Jensen CG, Poole CA, McGlashan SR, et al. Primary cilia mediate mechanotransduction through control of ATP-induced Ca2+ signaling in compressed chondrocytes. Faseb J. 2012 (4): 1663-71.
  • Wann AKT, McGlashan SR, Zuo N, Haycraft CJ, Poole CA, Knight MM. Primary cilia orchestrate chondrocyte mechanotransduction. Int J Exp Pathol. 2012 (4): A5-A6.
  • Wann AKT, Knight MM. Primary cilia elongation in response to interleukin-1 mediates the inflammatory response. Cell Mol Life Sci. 2012 (17): 2967-77.
  • Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, et al. Heat shock induces rapid resorption of primary cilia. J Cell Sci. 2012 (18): 4297-305.
  • Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet. 2012 (6): 714-U148.
  • Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, et al. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest. 2012 (4): 1233-45.
  • Norris DP. Cilia, calcium and the basis of left-right asymmetry. Bmc Biol. 2012: 10.
  • Keynton JL, Norris DP. Flutter: a novel mouse mutant with hyperkinetic cilia. Genet Res. 2012 (6): 358.
  • Grimes DT, Norris DP. Cilia, flow and polycystins: how the embryo determines left from right. Genet Res. 2012 (6): 357.
  • Norris DP, Grimes DT. Mouse models of ciliopathies: the state of the art. Dis Model Mech. 2012 (3): 299-312.
  • Lucas JS, Adam EC, Goggin PM, Jackson CL, Powles-Glover N, Patel SH, et al. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD. Hum Mutat. 2012 (3): 495-503.
  • Schwarz N, Hardcastle AJ, Cheetham ME. The Role of the X-linked Retinitis Pigmentosa Protein RP2 in Vesicle Traffic and Cilia Function. Adv Exp Med Biol. 2012: 527-32.
  • Schwarz N, Hardcastle AJ, Cheetham ME. Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. Vision Res. 2012 (75): 2-4.
  • Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Ramirez IBR, et al. The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum Mol Genet. 2012 (8): 1835-47.
  • McIntyre JC, Davis EE, Joiner A, Williams CL, Tsai IC, Jenkins PM, et al. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 (9): 1423-+.

2011

  • Tanos BW, Soni R et al. A novel distal appendage protein required for primary cilium formation. Mol Biol Cell. 2011; 22(A257).
  • Chen DD, Norris D, Ventikos Y. Ciliary behaviour and mechano-transduction in the embryonic node: Computational testing of hypotheses. Med Eng Phys. 2011 (7): 857-67.
  • Field S, Riley KL, Grimes DT, Hilton H, Simon M, Powles-Glover N, et al. Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2. Development. 2011 (138): 1131-42.
  • Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, et al. TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet. 2011 (5): 975-87.
  • Coon BG, Madhivanan K, Hernandez V, Mukherjee D, Hanna CB, Lowe M, et al. The Oculo-Cerebro-Renal Syndrome of Lowe as a Ciliopathy: Role of Ocrl1 in Primary Cilia Assembly. Mol Biol Cell. 2011; 22.
  • Winyard P, Jenkins D. Putative roles of cilia in polycystic kidney disease. Bba-Mol Basis Dis. 2011 (10): 1256-62.

2010

  • McGlashan SR, Knight MM, Chowdhury TT, Joshi P, Jensen CG, Kennedy S, et al. Mechanical loading modulates chondrocyte primary cilia incidence and length. Cell Biol Int. 2010 (5): 441-6.
  • Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME. The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet. 2010 (7): 1358-67.
  • May-Simera HL, Kai M, Hernandez V, Osborn DPS, Tada M, Beales PL. Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Dev Biol. 2010 (2): 215-25.
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