Kere J. The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype. Biochem Biophys Res Commun. 2014;452(2):236–43.
Article CAS PubMed Google Scholar
Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, et al. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA. 2003;100(20):11553–8.
Article CAS PubMed PubMed Central Google Scholar
Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, et al. DCDC2 is associated with reading disability and modulates neuronal development in the brain. Proc Natl Acad Sci USA. 2005;102(47):17053–8.
Article CAS PubMed PubMed Central Google Scholar
Schumacher J, Anthoni H, Dahdouh F, Konig IR, Hillmer AM, Kluck N, et al. Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet. 2006;78(1):52–62.
Article CAS PubMed Google Scholar
Gabel LA, Gibson CJ, Gruen JR, LoTurco JJ. Progress towards a cellular neurobiology of reading disability. Neurobiol Dis. 2010;38(2):173–80.
Article CAS PubMed Google Scholar
Wang Y, Paramasivam M, Thomas A, Bai J, Kaminen-Ahola N, Kere J, et al. DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience. 2006;143(2):515–22.
Article CAS PubMed Google Scholar
Tammimies K, Vitezic M, Matsson H, Le Guyader S, Burglin TR, Ohman T, et al. Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry. 2013;73(6):583–90.
Article CAS PubMed Google Scholar
Galaburda AM, Sherman GF, Rosen GD, Aboitiz F, Geschwind N. Developmental dyslexia: four consecutive patients with cortical anomalies. Ann Neurol. 1985;18(2):222–33.
Article CAS PubMed Google Scholar
Hildebrandt F, Benzing T, Katsanis N, Ciliopathies. N Engl J Med. 2011;364(16):1533–43.
Article CAS PubMed PubMed Central Google Scholar
Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nat reviews Neurol. 2014;10(1):27–36.
Marley A, von Zastrow M. A simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary cilia. PLoS ONE. 2012;7(10):e46647.
Article CAS PubMed PubMed Central Google Scholar
Trulioff A, Ermakov A, Malashichev Y. Primary cilia as a possible link between Left-Right Asymmetry and Neurodevelopmental Diseases. Genes. 2017;8(2).
Munoz-Estrada J, Lora-Castellanos A, Meza I, Alarcon Elizalde S, Benitez-King G. Primary cilia formation is diminished in schizophrenia and bipolar disorder: a possible marker for these psychiatric diseases. Schizophr Res. 2018;195:412–20.
Migliavacca E, Golzio C, Mannik K, Blumenthal I, Oh EC, Harewood L, et al. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015;96(5):784–96.
Article CAS PubMed PubMed Central Google Scholar
Monroe TO, Garrett ME, Kousi M, Rodriguiz RM, Moon S, Bai Y, et al. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020;11(1):5903.
Article CAS PubMed PubMed Central Google Scholar
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. 2013;45(9):995–1003.
Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN et al. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum genetics: EJHG. 2014.
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, et al. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting wnt signaling. Am J Hum Genet. 2015;96(1):81–92.
Article CAS PubMed PubMed Central Google Scholar
Grati M, Chakchouk I, Ma Q, Bensaid M, Desmidt A, Turki N et al. A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Hum Mol Genet. 2015.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, et al. DCDC2 mutations cause neonatal sclerosing Cholangitis. Hum Mutat. 2016;37(10):1025–9.
Article CAS PubMed Google Scholar
Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, et al. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol. 2016;65(6):1179–87.
Article CAS PubMed PubMed Central Google Scholar
Ross AJ, Dailey LA, Brighton LE, Devlin RB. Transcriptional profiling of mucociliary differentiation in human airway epithelial cells. Am J Respir Cell Mol Biol. 2007;37(2):169–85.
Article CAS PubMed Google Scholar
Ivliev AE, t Hoen PA, van Roon-Mom WM, Peters DJ, Sergeeva MG. Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. PLoS ONE. 2012;7(4):e35618.
Article CAS PubMed PubMed Central Google Scholar
Hoh RA, Stowe TR, Turk E, Stearns T. Transcriptional program of ciliated epithelial cells reveals new cilium and centrosome components and links to human disease. PLoS ONE. 2012;7(12):e52166.
Article CAS PubMed PubMed Central Google Scholar
Chandrasekar G, Vesterlund L, Hultenby K, Tapia-Paez I, Kere J. The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function. PLoS ONE. 2013;8(5):e63123.
Article CAS PubMed PubMed Central Google Scholar
Grimes DT, Boswell CW, Morante NF, Henkelman RM, Burdine RD, Ciruna B. Zebrafish models of idiopathic scoliosis link cerebrospinal fluid flow defects to spine curvature. Volume 352. New York, NY: Science; 2016. pp. 1341–4. 6291.
Yamamoto R, Obbineni JM, Alford LM, Ide T, Owa M, Hwang J, et al. Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms. PLoS Genet. 2017;13(9):e1006996.
Article PubMed PubMed Central Google Scholar
Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, et al. Establishment of the early cilia preassembly protein complex during motile ciliogenesis. Proc Natl Acad Sci USA. 2018;115(6):E1221–e8.
Article CAS PubMed PubMed Central Google Scholar
Aprea I, Raidt J, Höben IM, Loges NT, Nöthe-Menchen T, Pennekamp P, et al. Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. PLoS Genet. 2021;17(2):e1009306.
Article CAS PubMed PubMed Central Google Scholar
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun. 2017;8(1):14279.
Article CAS PubMed PubMed Central Google Scholar
Tammimies K, Bieder A, Lauter G, Sugiaman-Trapman D, Torchet R, Hokkanen ME, et al. Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory factor X (RFX) transcription factors through X-box promoter motifs. FASEB journal: official publication of the Federation of American Societies for Experimental Biology. 2016;30(10):3578–87.
Article CAS PubMed Google Scholar
Bieder A, Yoshihara M, Katayama S, Krjutškov K, Falk A, Kere J, et al. Dyslexia candidate gene and ciliary gene expression Dynamics during Human neuronal differentiation. Mol Neurobiol. 2020;57(7):2944–58.
Article CAS PubMed PubMed Central Google Scholar
Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005;37(4):353–5.
Article CAS PubMed Google Scholar
Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010;47(6):411–4.
Article CAS PubMed Google Scholar
Gabriel E, Wason A, Ramani A, Gooi LM, Keller P, Pozniakovsky A, et al. CPAP promotes timely cilium disassembly to maintain neural progenitor pool. EMBO J. 2016;35(8):803–19.
Article CAS PubMed PubMed Central Google Scholar
Wu KS, Tang TK. CPAP is required for cilia formation in neuronal cells. Biology open. 2012;1(6):559–65.
Article CAS PubMed PubMed Central Google Scholar
Ding W, Wu Q, Sun L, Pan NC, Wang X. Cenpj regulates Cilia Disassembly and Neurogenesis in the developing mouse cortex. J Neurosci. 2019;39(11):1994–2010.
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