Publications

Cilia - related publications that you may be wish to read are listed here.

2018

The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts.
Struchtrup A, Wiegering A, Stork B, Rüther U, Gerhardt C.
Autophagy. 2018 Jan 26

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Irving S, Dixon M, Fassad MR, Frost E, Hayward J, Kilpin K, Ollosson S, Onoufriadis A, Patel MP, Scully J, Carr SB, Mitchison HM, Loebinger MR, Hogg C, Shoemark A, Bush A.
Lung. 2018 Jan 24

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion.
Reiner J, Pisani L, Qiao W, Singh R, Yang Y, Shi L, Khan WA, Sebra R, Cohen N, Babu A, Edelmann L, Jabs EW, Scott SA.
NPJ Genom Med. 2018 Jan 22

Interaction between the C. elegans centriolar protein SAS-5 and microtubules facilitates organelle assembly.
Bianchi S, Rogala KB, Dynes NJ, Hilbert M, Leidel SA, Steinmetz MO, Gönczy P, Vakonakis I.
Mol Biol Cell. 2018 Jan 24.

Homozygous missense mutation L673P in Adenylate Kinase 7 (AK7) leads to primary male infertility and Multiple Morphological Anomalies of the Flagella but not to Primary Ciliary Dyskinesia.
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.
Hum Mol Genet. 2018 Jan 22

Application of High-speed Super-resolution SPEED Microscopy in Live Primary Cilium.
Ruba A, Luo W, Yang W.
J Vis Exp. 2018 Jan 16

Once and only once: mechanisms of centriole duplication and their deregulation in disease.
Nigg EA, Holland AJ.
Nat Rev Mol Cell Biol. 2018 Jan 24

Hedgehog antagonist pyrimidine-indole hybrid molecule inhibits ciliogenesis through microtubule destabilization.
Sinha S, Khatra H, Khan PP, Pattanayak S, Bhadra J, Rather B, Chakrabarti S, Saha T.
Chembiochem. 2018 Jan 24.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
Kunova Bosakova M, Varecha M, Hampl M, Duran I, Nita A, Buchtova M, Dosedelova H, Machat R, Xie Y, Ni Z, Martin JH, Chen L, Jansen G, Krakow D, Krejci P.
Hum Mol Genet. 2018 Jan 17

Motile cilia of human airway epithelia contain hedgehog signaling components that mediate noncanonical hedgehog signaling.
Mao S, Shah AS, Moninger TO, Ostedgaard LS, Lu L, Tang XX, Thornell IM, Reznikov LR, Ernst SE, Karp PH, Tan P, Keshavjee S, Abou Alaiwa MH, Welsh MJ.
Proc Natl Acad Sci U S A. 2018 Jan 22.

Establishment of the early cilia preassembly protein complex during motile ciliogenesis.
Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, Haspel JA, Piston DW, Brody SL.
Proc Natl Acad Sci U S A. 2018 Jan 22.

Nanoscale imaging of primary cilia with scanning ion conductance microscopy.
Zhou Y, Saito M, Miyamoto T, Novak P, Shevchuk AI, Korchev YE, Fukuma T, Takahashi Y.
Anal Chem. 2018 Jan 18.

Cilia-related protein SPEF2 regulates osteoblast differentiation.
Lehti MS, Henriksson H, Rummukainen P, Wang F, Uusitalo-Kylmälä L, Kiviranta R, Heino TJ, Kotaja N, Sironen A.
Sci Rep. 2018 Jan 16

The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export.
Liu P, Lechtreck KF.
Proc Natl Acad Sci U S A. 2018 Jan 16

Deficiency of primary cilia in kidney epithelial cells induces epithelial to mesenchymal transition.
Han SJ, Jung JK, Im SS, Lee SR, Jang BC, Park KM, Kim JI.
Biochem Biophys Res Commun. 2018 Jan 11

Myosin-Va is required for preciliary vesicle transportation to the mother centriole during ciliogenesis.
Wu CT, Chen HY, Tang TK.
Nat Cell Biol. 2018 Jan 15

Intra-Hepatic Bile Duct Primary Cilia In Biliary Atresia.
Frassetto R, Parolini F, Marceddu S, Satta G, Papacciuoli V, Pinna MA, Mela A, Secchi G, Galleri G, Manetti R, Bercich L, Villanacci V, Dessanti A, Antonucci R, Tanda F, Alberti D, Schwarz KB, Clemente MG.
Hepatol Res. 2018 Jan 13.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.
Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; NHLBI GO Exome Sequencing Project, Lung GO.
Ann Am Thorac Soc. 2018 Jan 11

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.
Eur J Hum Genet. 2018 Jan 10

LPA signaling is regulated through the primary cilium: a novel target in glioblastoma.
Loskutov YV, Griffin CL, Marinak KM, Bobko A, Margaryan NV, Geldenhuys WJ, Sarkaria JN, Pugacheva EN.
Oncogene. 2018 Jan 11

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.
Abdelhamed Z, Vuong SM, Hill L, Shula C, Timms A, Beier D, Campbell K, Mangano FT, Stottmann RW, Goto J.
Development. 2018 Jan 9

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.
Siljee JE, Wang Y, Bernard AA, Ersoy BA, Zhang S, Marley A, Von Zastrow M, Reiter JF, Vaisse C.
Nat Genet. 2018 Jan 8

Detergent-extracted Volvox model exhibits an anterior-posterior gradient in flagellar Ca2+ sensitivity.
Ueki N, Wakabayashi KI.
Proc Natl Acad Sci U S A. 2018 Jan 8.

Primary cilia proteins: ciliary and extraciliary sites and functions.
Hua K, Ferland RJ.
Cell Mol Life Sci. 2018 Jan 5

Olfactory loss and dysfunction in ciliopathies: Molecular mechanisms and potential therapies.
Uytingco CR, Green WW, Martens JR.
Curr Med Chem. 2018 Jan 4.

An Expanded Role for the RFX Transcription Factor DAF-19, with Dual Functions in Ciliated and Non-ciliated Neurons.
De Stasio EA, Mueller KP, Bauer RJ, Hurlburt AJ, Bice SA, Scholtz SL, Phirke P, Sugiaman-Trapman D, Stinson LA, Olson HB, Vogel SL, Ek-Vazquez Z, Esemen Y, Korzynski J, Wolfe K, Arbuckle BN, Zhang H, Lombard-Knapp G, Piasecki BP, Swoboda P.
Genetics. 2018 Jan 3.

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.
May-Simera HL, Wan Q, Jha BS, Hartford J, Khristov V, Dejene R, Chang J, Patnaik S, Lu Q, Banerjee P, Silver J, Insinna-Kettenhofen C, Patel D, Lotfi M, Malicdan M, Hotaling N, Maminishkis A, Sridharan R, Brooks B, Miyagishima K, Gunay-Aygun M, Pal R, Westlake C, Miller S, Sharma R, Bharti K.
Cell Rep. 2018 Jan 2

Conditional ablation of the RFX4 isoform 1 transcription factor: Allele dosage effects on brain phenotype.
Xu P, Morrison JP, Foley JF, Stumpo DJ, Ward T, Zeldin DC, Blackshear PJ.
PLoS One. 2018 Jan 3

 

2017

CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog.
Pusapati GV, Kong JH, Patel BB, Krishnan A, Sagner A, Kinnebrew M, Briscoe J, Aravind L, Rohatgi R.
Dev Cell. 2017 Dec 26

Crystal Structure of Bicc1 SAM Polymer and Mapping of Interactions between the Ciliopathy-Associated Proteins Bicc1, ANKS3, and ANKS6.
Rothé B, Leettola CN, Leal-Esteban L, Cascio D, Fortier S, Isenschmid M, Bowie JU, Constam DB.
Structure. 2017 Dec 26

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, Gustavsson P, Lindstrand A.
Hum Mutat. 2017 Dec 28

Building the right centriole for each cell type.
Loncarek J, Bettencourt-Dias M.
J Cell Biol. 2017 Dec 28.

Ca2+ modulation of cAMP-stimulated ciliary beat frequency via PDE1 in airway ciliary cells of mice.
Kogiso H, Hosogi S, Ikeuchi Y, Tanaka S, Inui T, Marunaka Y, Nakahari T.
Exp Physiol. 2017 Dec 28

Antagonistic regulation of trafficking to Caenorhabditis eleganssensory cilia by a retinal Degeneration homolog and retromer.
Martínez-Velázquez LA, Ringstad N.
Proc Natl Acad Sci U S A. 2017 Dec 27

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.
Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Ziegler U, Neuhauss SCF, Bachmann-Gagescu R.
PLoS Genet. 2017 Dec 27

Ciliary protein trafficking mediated by IFT and BBSome complexes with the aid of kinesin-2 and dynein-2 motors.
Nakayama K, Katoh Y.
J Biochem. 2017 Dec 20.

Systems-epigenomics inference of transcription factor activity implicates aryl-hydrocarbon-receptor inactivation as a key event in lung cancer development.
Chen Y, Widschwendter M, Teschendorff AE.
Genome Biol. 2017 Dec 20

Resveratrol protects primary cilia integrity of human mesenchymal stem cells from cigarette smoke to improve osteogenic differentiation in vitro.
Sreekumar V, Aspera-Werz R, Ehnert S, Strobel J, Tendulkar G, Heid D, Schreiner A, Arnscheidt C, Nussler AK.
Arch Toxicol. 2017 Dec 20.

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.
Sigg MA, Menchen T, Lee C, Johnson J, Jungnickel MK, Choksi SP, Garcia G Rd, Busengdal H, Dougherty GW, Pennekamp P, Werner C, Rentzsch F, Florman HM, Krogan N, Wallingford JB, Omran H, Reiter JF.
Dev Cell. 2017 Dec 18

Probing Cilia-Associated Signaling Proteomes in Animal Evolution.
Shulman AS, Tsou MB.
Dev Cell. 2017 Dec 18

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA.
Eur J Hum Genet. 2017 Dec;25

STEM tomography analysis of the trypanosome transition zone.
Trépout S, Tassin AM, Marco S, Bastin P.
J Struct Biol. 2017 Dec 14

Controlling centriole numbers: Geminin family members as master regulators of centriole amplification and multiciliogenesis.
Arbi M, Pefani DE, Taraviras S, Lygerou Z.
Chromosoma. 2017 Dec 14

Regulation of hyperoxia-induced social behaviour in Pristionchus pacificus nematodes requires a novel cilia-mediated environmental input.
Moreno E, Sieriebriennikov B, Witte H, Rödelsperger C, Lightfoot JW, Sommer RJ.
Sci Rep. 2017 Dec 14

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.
Schmid FM, Schou KB, Vilhelm MJ, Holm MS, Breslin L, Farinelli P, Larsen LA, Andersen JS, Pedersen LB, Christensen ST.
J Cell Biol. 2017 Dec 13

Cilia loss sensitizes cells to transformation by activating the mevalonate pathway.
Deng YZ, Cai Z, Shi S, Jiang H, Shang YR, Ma N, Wang JJ, Guan DX, Chen TW, Rong YF, Qian ZY, Zhang EB, Feng D, Zhou QL, Du YN, Liu DP, Huang XX, Liu LM, Chin E, Li DS, Wang XF, Zhang XL, Xie D.
J Exp Med. 2017 Dec 13.

Intraflagellar Transporter Protein 140 (IFT140), a component of IFT-A complex, is Essential for Male Fertility and Spermiogenesis in Mice.
Zhang Y, Liu H, Li W, Zhang Z, Zhang S, Teves ME, Stevens C, Foster JA, Campbell GE, Windle JJ, Hess RA, Pazour GJ, Zhang Z.
Cytoskeleton (Hoboken). 2017 Dec 13

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex.
Bizzotto S, Uzquiano A, Dingli F, Ershov D, Houllier A, Arras G, Richards M, Loew D, Minc N, Croquelois A, Houdusse A, Francis F.
Sci Rep. 2017 Dec 11

Identification of clustered phosphorylation sites in PKD2L1: how PKD2L1 channel activation is regulated by cyclic adenosine monophosphate signaling pathway.
Park EYJ, Kwak M, Ha K, So I.
Pflugers Arch. 2017 Dec 11

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.
Hum Mol Genet. 2017 Dec 7.

The G-protein-coupled receptor Gpr161 regulates forelimb formation, limb patterning and skeletal morphogenesis in a primary cilium-dependent manner.
Hwang SH, White KA, Somatilaka BN, Shelton JM, Richardson JA, Mukhopadhyay S.
Development. 2017 Dec 8

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
Takahara M, Katoh Y, Nakamura K, Hirano T, Sugawa M, Tsurumi Y, Nakayama K.
Hum Mol Genet. 2017 Dec 6.

The primary cilium - once a "rudimentary" organelle that is now a ubiquitous sensory cellular structure involved in many pathological disorders.
Wheatley DN.
J Cell Commun Signal. 2017 Dec 7

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.
Itoh M, Ide S, Iwasaki Y, Saito T, Narita K, Dai H, Yamakura S, Furue T, Kitayama H, Maeda K, Takahashi E, Matsui K, Goto YI, Takeda S, Arima M.
Brain Dev. 2017 Dec 4

The mouse Jhy gene regulates ependymal cell differentiation and ciliogenesis.
Muniz-Talavera H, Schmidt JV.
PLoS One. 2017 Dec 6

Losers of Primary Cilia Gain the Benefit of Survival.
Goranci-Buzhala G, Gabriel E, Mariappan A, Gopalakrishnan J.
Cancer Discov. 2017 Dec;7

IFT proteins spatially control the geometry of cleavage furrow ingression and lumen positioning.
Taulet N, Vitre B, Anguille C, Douanier A, Rocancourt M, Taschner M, Lorentzen E, Echard A, Delaval B.
Nat Commun. 2017 Dec 4

Lipopolysaccharide impairs mucin secretion and stimulated mucosal immune stress response in respiratory tract of neonatal chicks.
Fan X, Jiao H, Zhao J, Wang X, Lin H.
Comp Biochem Physiol C Toxicol Pharmacol. 2017 Dec 1.

Protein localization screening in vivo reveals novel regulators of multiciliated cell development and function.
Tu F, Sedzinski J, Ma Y, Marcotte EM, Wallingford JB.
J Cell Sci. 2017 Nov 27

Glucose deprivation induces primary cilium formation through mTORC1 inactivation.
Takahashi K, Nagai T, Chiba S, Nakayama K, Mizuno K.
J Cell Sci. 2017 Nov 27

Modulation of Wnt signaling is essential for the differentiation of ciliated epithelial cells in human airways.
Schmid A, Sailland J, Novak L, Baumlin N, Fregien N, Salathe M.
FEBS Lett. 2017 Nov

Heterodimeric capping protein is required for stereocilia length and width regulation.
Avenarius MR, Krey JF, Dumont RA, Morgan CP, Benson CB, Vijayakumar S, Cunningham CL, Scheffer DI, Corey DP, Müller U, Jones SM, Barr-Gillespie PG.
J Cell Biol. 2017 Nov 6

The Gene Ontology of eukaryotic cilia and flagella.
Roncaglia P, van Dam TJP, Christie KR, Nacheva L, Toedt G, Huynen MA, Huntley RP, Gibson TJ, Lomax J.
Cilia. 2017 Nov 16

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE.
Eur J Med Genet. 2017 Nov 22

Microtubule-Organizing Centers: Towards a Minimal Parts List.
Paz J, Lüders J.
Trends Cell Biol. 2017 Nov 21.

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.
Formichi P, Battisti C, De Santi MM, Guazzo R, Tripodi SA, Radi E, Rossi B, Tarquini E, Federico A.
J Cell Physiol. 2018 Jan

Single-Molecule Fluorescence Microscopy in Living Caenorhabditis elegans.
van Krugten J, Peterman EJG.
Methods Mol Biol. 2018

Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.
Am J Med Genet A. 2017 Dec

How to use nasal nitric oxide in a child with suspected primary ciliary dyskinesia.
Simpson K, Brodlie M.
Arch Dis Child Educ Pract Ed. 2017 Dec

The connections of Wnt pathway components with cell cycle and centrosome: side effects or a hidden logic?
Bryja V, Červenka I, Čajánek L.
Crit Rev Biochem Mol Biol. 2017 Dec

Intraflagellar transporter protein (IFT27), an IFT25 binding partner, is essential for male fertility and spermiogenesis in mice.
Zhang Y, Liu H, Li W, Zhang Z, Shang X, Zhang D, Li Y, Zhang S, Liu J, Hess RA, Pazour GJ, Zhang Z.
Dev Biol. 2017 Dec

Mutations in the Katnb1 gene cause left-right asymmetry and heart defects.
Furtado MB, Merriner DJ, Berger S, Rhodes D, Jamsai D, O'Bryan MK.
Dev Dyn. 2017 Dec

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R.
Hum Mol Genet. 2017 Dec

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA.
Hum Mol Genet. 2017 Dec

Early ciliary and prominin-1 dysfunctions precede neurogenesis impairment in a mouse model of type 2 diabetes.
Bachor TP, Karbanová J, Büttner E, Bermúdez V, Marquioni-Ramella M, Carmeliet P, Corbeil D, Suburo AM.
Neurobiol Dis. 2017 Dec

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.
Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.
Otol Neurotol. 2017 Dec

Glutamylation Regulates Transport, Specializes Function, and Sculpts the Structure of Cilia.
O'Hagan R, Silva M, Nguyen KCQ, Zhang W, Bellotti S, Ramadan YH, Hall DH, Barr MM.
Curr Biol. 2017 Nov 20

Absence or mislocalization of DNAH5 is a characteristic marker for motile ciliary abnormality in nasal polyps.
Qiu Q, Peng Y, Zhu Z, Chen Z, Zhang C, Ong HH, Tan KS, Hong H, Yan Y, Huang H, Liu J, Li X, Nam HN, Dung NTN, Shi L, Yang Q, Bingle CD, Wang DY.
Laryngoscope. 2017 Nov 17

Axonemal Lumen Dominates Cytosolic Protein Diffusion inside the Primary Cilium.
Luo W, Ruba A, Takao D, Zweifel LP, Lim RYH, Verhey KJ, Yang W.
Sci Rep. 2017 Nov 17

Flagellar incorporation of proteins follows at least two different routes in trypanosomes.
Vincensini L, Blisnick T, Bertiaux E, Hutchinson S, Georgikou C, Ooi CP, Bastin P.
Biol Cell. 2017 Nov 16

Stk33 is required for spermatid differentiation and male fertility in mice.
Martins LR, Bung RK, Koch S, Richter K, Schwarzmüller L, Terhardt D, Kurtulmus B, Niehrs C, Rouhi A, Lohmann I, Pereira G, Fröhling S, Glimm H, Scholl C.
Dev Biol. 2017 Nov 16

A novel interaction between kinase activities in regulation of cilia formation.
DeVaul N, Koloustroubis K, Wang R, Sperry AO.
BMC Cell Biol. 2017 Nov 15

Neural crest cells utilize primary cilia to regulate ventral forebrain morphogenesis via Hedgehog-dependent regulation of oriented cell division.
Schock EN, Brugmann SA.
Dev Biol. 2017 Nov 15

A recombinant BBSome core complex and how it interacts with ciliary cargo.
Klink BU, Zent E, Juneja P, Kuhlee A, Raunser S, Wittinghofer A.
Elife. 2017 Nov 15

An integrated mathematical epithelial cell model for airway surface liquid regulation by mechanical forces.
Wu D, Boucher RC, Button B, Elston T, Lin CL.
J Theor Biol. 2017 Nov 15

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K.
Birth Defects Res. 2017 Nov 14

Intranasal delivery of α-asarone to the brain with lactoferrin-modified mPEG-PLA nanoparticles prepared by premix membrane emulsification.
Pan L, Zhou J, Ju F, Zhu H.
Drug Deliv Transl Res. 2017 Nov 13

Impaired Ciliogenesis in differentiating human bronchial epithelia exposed to non-Cytotoxic doses of multi-walled carbon Nanotubes.
Snyder RJ, Hussain S, Tucker CJ, Randell SH, Garantziotis S.
Part Fibre Toxicol. 2017 Nov 13

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Guen VJ, Edvardson S, Fraenkel ND, Fattal-Valevski A, Jalas C, Anteby I, Shaag A, Dor T, Gillis D, Kerem E, Lees JA, Colas P, Elpeleg O.
Am J Med Genet A. 2017 Nov 12

Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.
Steger M, Diez F, Dhekne HS, Lis P, Nirujogi RS, Karayel O, Tonelli F, Martinez TN, Lorentzen E, Pfeffer SR, Alessi DR, Mann M.
Elife. 2017 Nov 10

Intraflagellar transport proteins are involved in thrombocyte filopodia formation and secretion.
Radhakrishnan U, Alsrhani A, Sundaramoorthi H, Khandekar G, Kashyap M, Fuchs JL, Perkins BD, Omori Y, Jagadeeswaran P.
Platelets. 2017 Nov 10

Visualization and quantification of injury to the ciliated epithelium using quantitative flow imaging and speckle variance optical coherence tomography.
Gamm UA, Huang BK, Mis EK, Khokha MK, Choma MA.
Sci Rep. 2017 Nov 8

Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines.
Cockx M, Gouwy M, Ruytinx P, Lodewijckx I, Van Hout A, Knoops S, Pörtner N, Ronsse I, Vanbrabant L, Godding V, De Boeck K, Van Damme J, Boon M, Struyf S.
Sci Rep. 2017 Nov 7

Axonemal dynein assembly requires the R2TP complex component Pontin.
Li Y, Zhao L, Yuan S, Zhang J, Sun Z.
Development. 2017 Nov 7

Mapping GPR88-Venus illuminates a novel role for GPR88 in sensory processing.
Ehrlich AT, Semache M, Bailly J, Wojcik S, Arefin TM, Colley C, Le Gouill C, Gross F, Lukasheva V, Hogue M, Darcq E, Harsan LA, Bouvier M, Kieffer BL.
Brain Struct Funct. 2017 Nov 6

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier
Hum Mol Genet. 2017 Nov 7

Testing the time-of-flight model for flagellar length sensing.
Ishikawa H, Marshall WF.
Mol Biol Cell. 2017 Nov 7

Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines.
Cockx M, Gouwy M, Ruytinx P, Lodewijckx I, Van Hout A, Knoops S, Pörtner N, Ronsse I, Vanbrabant L, Godding V, De Boeck K, Van Damme J, Boon M, Struyf S.
Sci Rep. 2017 Nov 7

Production of recombinant human tektin 1, 2, and 4 and in vitro assembly of human tektin 1.
Budamagunta MS, Guo F, Sun N, Shibata B, FitzGerald PG, Voss JV, Hess JF.
Cytoskeleton (Hoboken). 2017 Nov 6

Microtubule stabilization drives 3D centrosome migration to initiate primary ciliogenesis.
Pitaval A, Senger F, Letort G, Gidrol X, Guyon L, Sillibourne J, Théry M.
J Cell Biol. 2017 Nov 6

A novel gene, cilia flagella associated protein 44, encoding an enzyme cleaving FtsZ and tubulin contributes to the regulation of secretory pathway.
Tanaka AS, Tanaka M.
Biochem Biophys Res Commun. 2017 Nov 4

The C. elegans mRNA decapping enzyme shapes morphology of cilia.
Adachi T, Nagahama K, Izumi S.
Biochem Biophys Res Commun. 2017 Nov 4

Phencyclidine-induced dysregulation of primary cilia in the rodent brain.
Shiwaku H, Umino A, Umino M, Nishikawa T.
Brain Res. 2017 Nov 1

Routes and machinery of primary cilium biogenesis.
Bernabé-Rubio M, Alonso MA.
Cell Mol Life Sci. 2017 Nov

Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.
Ma M, Gallagher AR, Somlo S.
Cold Spring Harb Perspect Biol. 2017 Nov 1

A tectorin-based matrix and planar cell polarity genes are required for normal collagen-fibril orientation in the developing tectorial membrane.
Goodyear RJ, Lu X, Deans MR, Richardson GP.
Development. 2017 Nov 1

Cytoskeleton-related regulation of primary cilia shortening mediated by melanin-concentrating hormone receptor 1.
Tomoshige S, Kobayashi Y, Hosoba K, Hamamoto A, Miyamoto T, Saito Y.
Gen Comp Endocrinol. 2017 Nov 1

A novel Cre-inducible knock-in ARL13B-tRFP fusion cilium reporter.
Schmitz F, Burtscher I, Stauber M, Gossler A, Lickert H.
Genesis. 2017 Nov

Apico-basal Polarity Determinants Encoded by crumbs Genes Affect Ciliary Shaft Protein Composition, IFT Movement Dynamics, and Cilia Length.
Hazime K, Malicki JJ.
Genetics. 2017 Nov

Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria.
Gambassi S, Geminiani M, Thorpe SD, Bernardini G, Millucci L, Braconi D, Orlandini M, Thompson CL, Petricci E, Manetti F, Taddei M, Knight MM, Santucci A.
J Cell Physiol. 2017 Nov

Integrin α8 and Pcdh15 act as a complex to regulate cilia biogenesis in sensory cells.
Goodman L, Zallocchi M.
J Cell Sci. 2017 Nov 1

Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
Panny A, Glurich I, Haws RM, Acharya A.
J Dent Res. 2017 Nov

A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.
Outeda P, Menezes L, Hartung EA, Bridges S, Zhou F, Zhu X, Xu H, Huang Q, Yao Q, Qian F, Germino GG, Watnick T.
Kidney Int. 2017 Nov

Shear stress induces noncanonical autophagy in intestinal epithelial monolayers.
Kim SW, Ehrman J, Ahn MR, Kondo J, Lopez AAM, Oh YS, Kim XH, Crawley SW, Goldenring JR, Tyska MJ, Rericha EC, Lau KS.
Mol Biol Cell. 2017 Nov

Basic fibroblast growth factor increases IFT88 expression in chondrocytes.
Zhan D, Xiang W, Guo F, Ma Y.
Mol Med Rep. 2017 Nov

Primary cilia: Cell and molecular mechanosensors directing whole tissue function.
Spasic M, Jacobs CR.
Semin Cell Dev Biol. 2017 Nov

Human Embryonic Stem Cell-Derived Cardiomyocytes Self-Arrange with Areas of Different Subtypes During Differentiation.
Vestergaard ML, Grubb S, Koefoed K, Anderson-Jenkins Z, Grunnet-Lauridsen K, Calloe K, Clausen C, Christensen ST, Møllgård K, Andersen CY.
Stem Cells Dev. 2017 Nov

Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?
Werner C, Kouis P.
Ultrastruct Pathol. 2017 Nov-Dec

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.
Mitchison HM, Shoemark A.
Ultrastruct Pathol. 2017 Nov-Dec

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.
Dixon M, Shoemark A.
Ultrastruct Pathol. 2017 Nov-Dec

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis.
Shoemark A.
Ultrastruct Pathol. 2017 Nov-Dec

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
Shapiro AJ, Leigh MW.
Ultrastruct Pathol. 2017 Nov-Dec

Application of laboratory and digital techniques for visual enhancement during the ultrastructural assessment of cilia.
Schroeder JA.
Ultrastruct Pathol. 2017 Nov-Dec

  • 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.