BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet 2012;44:381-9, S1-2. [PMID: 22387996 DOI: 10.1038/ng.1106] [Cited by in Crossref: 176] [Cited by in F6Publishing: 156] [Article Influence: 17.6] [Reference Citation Analysis]
Number Citing Articles
1 Huang J, Sun L, Mennigen JA, Liu Y, Liu S, Zhang M, Wang Q, Tu W. Developmental toxicity of the novel PFOS alternative OBS in developing zebrafish: An emphasis on cilia disruption. Journal of Hazardous Materials 2021;409:124491. [DOI: 10.1016/j.jhazmat.2020.124491] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
2 Legendre M, Zaragosi LE, Mitchison HM. Motile cilia and airway disease. Semin Cell Dev Biol 2021;110:19-33. [PMID: 33279404 DOI: 10.1016/j.semcdb.2020.11.007] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 7.5] [Reference Citation Analysis]
3 Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H; UK10K. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013;45:995-1003. [PMID: 23872636 DOI: 10.1038/ng.2707] [Cited by in Crossref: 184] [Cited by in F6Publishing: 160] [Article Influence: 20.4] [Reference Citation Analysis]
4 Song Z, Zhang X, Jia S, Yelick PC, Zhao C. Zebrafish as a Model for Human Ciliopathies. Journal of Genetics and Genomics 2016;43:107-20. [DOI: 10.1016/j.jgg.2016.02.001] [Cited by in Crossref: 39] [Cited by in F6Publishing: 36] [Article Influence: 6.5] [Reference Citation Analysis]
5 Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, Ennis S, Slattery D, Lynch SA. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet 2015;23:210-7. [PMID: 24824133 DOI: 10.1038/ejhg.2014.79] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
6 Brennan SK, Ferkol TW, Davis SD. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci 2021;22:8272. [PMID: 34361034 DOI: 10.3390/ijms22158272] [Reference Citation Analysis]
7 Pleuger C, Lehti MS, Dunleavy JE, Fietz D, O'Bryan MK. Haploid male germ cells-the Grand Central Station of protein transport. Hum Reprod Update 2020;26:474-500. [PMID: 32318721 DOI: 10.1093/humupd/dmaa004] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 10.0] [Reference Citation Analysis]
8 Sui W, Hou X, Che W, Ou M, Sun G, Huang S, Liu F, Chen P, Wei X, Dai Y. CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature: CCDC40 mutation as a cause of PCD. The Clinical Respiratory Journal 2016;10:614-21. [DOI: 10.1111/crj.12268] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 1.7] [Reference Citation Analysis]
9 Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 2014;94:95-104. [PMID: 24360805 DOI: 10.1016/j.ajhg.2013.11.017] [Cited by in Crossref: 178] [Cited by in F6Publishing: 173] [Article Influence: 19.8] [Reference Citation Analysis]
10 Yuan S, Sun Z. Expanding horizons: ciliary proteins reach beyond cilia. Annu Rev Genet 2013;47:353-76. [PMID: 24016188 DOI: 10.1146/annurev-genet-111212-133243] [Cited by in Crossref: 55] [Cited by in F6Publishing: 58] [Article Influence: 6.1] [Reference Citation Analysis]
11 Lin H, Zhang Z, Guo S, Chen F, Kessler JM, Wang YM, Dutcher SK. A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures. PLoS Genet 2015;11:e1005508. [PMID: 26348919 DOI: 10.1371/journal.pgen.1005508] [Cited by in Crossref: 31] [Cited by in F6Publishing: 25] [Article Influence: 4.4] [Reference Citation Analysis]
12 Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Am J Hum Genet 2018;102:973-84. [PMID: 29727693 DOI: 10.1016/j.ajhg.2018.03.025] [Cited by in Crossref: 32] [Cited by in F6Publishing: 28] [Article Influence: 8.0] [Reference Citation Analysis]
13 Bush A, Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Review of Respiratory Medicine 2014;6:663-82. [DOI: 10.1586/ers.12.60] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 4.0] [Reference Citation Analysis]
14 Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017;49:1601090. [PMID: 27836958 DOI: 10.1183/13993003.01090-2016] [Cited by in Crossref: 254] [Cited by in F6Publishing: 214] [Article Influence: 50.8] [Reference Citation Analysis]
15 Alves AA, Gabriel HB, Bezerra MJR, de Souza W, Vaughan S, Cunha-E-Silva NL, Sunter JD. Control of assembly of extra-axonemal structures: the paraflagellar rod of trypanosomes. J Cell Sci 2020;133:jcs242271. [PMID: 32295845 DOI: 10.1242/jcs.242271] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
16 Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013;93:711-20. [PMID: 24055112 DOI: 10.1016/j.ajhg.2013.07.025] [Cited by in Crossref: 100] [Cited by in F6Publishing: 89] [Article Influence: 11.1] [Reference Citation Analysis]
17 Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2013;93:321-329. [PMID: 23849777 DOI: 10.1016/j.ajhg.2013.06.003] [Cited by in Crossref: 48] [Cited by in F6Publishing: 43] [Article Influence: 5.3] [Reference Citation Analysis]
18 Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res 2014;75:158-64. [PMID: 24192704 DOI: 10.1038/pr.2013.200] [Cited by in Crossref: 50] [Cited by in F6Publishing: 43] [Article Influence: 5.6] [Reference Citation Analysis]
19 Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2017;18:533-547. [PMID: 28698599 DOI: 10.1038/nrm.2017.60] [Cited by in Crossref: 546] [Cited by in F6Publishing: 459] [Article Influence: 109.2] [Reference Citation Analysis]
20 Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM; UK10K Consortium. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet 2014;95:257-74. [PMID: 25192045 DOI: 10.1016/j.ajhg.2014.08.005] [Cited by in Crossref: 104] [Cited by in F6Publishing: 90] [Article Influence: 13.0] [Reference Citation Analysis]
21 Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet 2015;97:153-62. [PMID: 26073779 DOI: 10.1016/j.ajhg.2015.05.004] [Cited by in Crossref: 45] [Cited by in F6Publishing: 37] [Article Influence: 6.4] [Reference Citation Analysis]
22 Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol 2016;55:213-24. [PMID: 26909801 DOI: 10.1165/rcmb.2015-0353OC] [Cited by in Crossref: 69] [Cited by in F6Publishing: 47] [Article Influence: 13.8] [Reference Citation Analysis]
23 Albee AJ, Kwan AL, Lin H, Granas D, Stormo GD, Dutcher SK. Identification of cilia genes that affect cell-cycle progression using whole-genome transcriptome analysis in Chlamydomonas reinhardtti. G3 (Bethesda) 2013;3:979-91. [PMID: 23604077 DOI: 10.1534/g3.113.006338] [Cited by in Crossref: 26] [Cited by in F6Publishing: 28] [Article Influence: 2.9] [Reference Citation Analysis]
24 Merveille AC, Battaille G, Billen F, Deleuze S, Fredholm M, Thomas A, Clercx C, Lequarré AS. Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. J Vet Intern Med 2014;28:771-8. [PMID: 24773602 DOI: 10.1111/jvim.12336] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 1.4] [Reference Citation Analysis]
25 Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Motile ciliopathies. Nat Rev Dis Primers 2020;6:77. [PMID: 32943623 DOI: 10.1038/s41572-020-0209-6] [Cited by in Crossref: 35] [Cited by in F6Publishing: 26] [Article Influence: 17.5] [Reference Citation Analysis]
26 Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 2020;16:e1008691. [PMID: 32764743 DOI: 10.1371/journal.pgen.1008691] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
27 Bournele D, Beis D. Zebrafish models of cardiovascular disease. Heart Fail Rev 2016;21:803-13. [DOI: 10.1007/s10741-016-9579-y] [Cited by in Crossref: 53] [Cited by in F6Publishing: 49] [Article Influence: 8.8] [Reference Citation Analysis]
28 Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012;91:685-93. [PMID: 23040496 DOI: 10.1016/j.ajhg.2012.08.022] [Cited by in Crossref: 123] [Cited by in F6Publishing: 105] [Article Influence: 13.7] [Reference Citation Analysis]
29 Ramesha KP, Mol P, Kannegundla U, Thota LN, Gopalakrishnan L, Rana E, Azharuddin N, Mangalaparthi KK, Kumar M, Dey G, Patil A, Saravanan K, Behera SK, Jeyakumar S, Kumaresan A, Kataktalware MA, Prasad TSK. Deep Proteome Profiling of Semen of Indian Indigenous Malnad Gidda ( Bos indicus ) Cattle. J Proteome Res 2020;19:3364-76. [DOI: 10.1021/acs.jproteome.0c00237] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
30 Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One 2013;8:e72299. [PMID: 23991085 DOI: 10.1371/journal.pone.0072299] [Cited by in Crossref: 77] [Cited by in F6Publishing: 69] [Article Influence: 8.6] [Reference Citation Analysis]
31 Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet 2013;93:561-70. [PMID: 23993197 DOI: 10.1016/j.ajhg.2013.07.013] [Cited by in Crossref: 108] [Cited by in F6Publishing: 95] [Article Influence: 12.0] [Reference Citation Analysis]
32 Muehsam D, Ventura C. Life rhythm as a symphony of oscillatory patterns: electromagnetic energy and sound vibration modulates gene expression for biological signaling and healing. Glob Adv Health Med 2014;3:40-55. [PMID: 24808981 DOI: 10.7453/gahmj.2014.008] [Cited by in Crossref: 16] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
33 Gressel J, van der Vlugt CJ, Bergmans HE. Environmental risks of large scale cultivation of microalgae: Mitigation of spills. Algal Research 2013;2:286-98. [DOI: 10.1016/j.algal.2013.04.002] [Cited by in Crossref: 33] [Cited by in F6Publishing: 18] [Article Influence: 3.7] [Reference Citation Analysis]
34 Gunes S, Sengupta P, Henkel R, Alguraigari A, Sinigaglia MM, Kayal M, Joumah A, Agarwal A. Microtubular Dysfunction and Male Infertility. World J Mens Health 2020;38:9-23. [PMID: 30350487 DOI: 10.5534/wjmh.180066] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 2.8] [Reference Citation Analysis]
35 Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. Hum Mutat 2016;37:776-85. [PMID: 27120127 DOI: 10.1002/humu.23005] [Cited by in Crossref: 29] [Cited by in F6Publishing: 23] [Article Influence: 4.8] [Reference Citation Analysis]
36 Chagot ME, Dos Santos Morais R, Dermouche S, Lefebvre D, Manival X, Chipot C, Dehez F, Quinternet M. Binding properties of the quaternary assembly protein SPAG1. Biochem J 2019;476:1679-94. [PMID: 31118266 DOI: 10.1042/BCJ20190198] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
37 Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr. 2013;172:151-162. [PMID: 22777640 DOI: 10.1007/s00431-012-1785-6] [Cited by in Crossref: 55] [Cited by in F6Publishing: 55] [Article Influence: 5.5] [Reference Citation Analysis]
38 Dutta M, Jana B. Computational modeling of dynein motor proteins at work. Chem Commun (Camb) 2021;57:272-83. [PMID: 33332489 DOI: 10.1039/d0cc05857b] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
39 Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014;189:707-717. [PMID: 24568568 DOI: 10.1164/rccm.201311-2047oc] [Cited by in Crossref: 131] [Cited by in F6Publishing: 69] [Article Influence: 16.4] [Reference Citation Analysis]
40 Huizar RL, Lee C, Boulgakov AA, Horani A, Tu F, Marcotte EM, Brody SL, Wallingford JB. A liquid-like organelle at the root of motile ciliopathy. Elife 2018;7:e38497. [PMID: 30561330 DOI: 10.7554/eLife.38497] [Cited by in Crossref: 29] [Cited by in F6Publishing: 17] [Article Influence: 7.3] [Reference Citation Analysis]
41 Beeby M, Ferreira JL, Tripp P, Albers S, Mitchell DR. Propulsive nanomachines: the convergent evolution of archaella, flagella and cilia. FEMS Microbiology Reviews 2020;44:253-304. [DOI: 10.1093/femsre/fuaa006] [Cited by in Crossref: 22] [Cited by in F6Publishing: 13] [Article Influence: 11.0] [Reference Citation Analysis]
42 Rompolas P, Patel-King RS, King SM. Association of Lis1 with outer arm dynein is modulated in response to alterations in flagellar motility. Mol Biol Cell 2012;23:3554-65. [PMID: 22855525 DOI: 10.1091/mbc.E12-04-0287] [Cited by in Crossref: 26] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
43 Dean AB, Mitchell DR. Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly. Mol Biol Cell 2013;24:3689-96. [PMID: 24088566 DOI: 10.1091/mbc.E13-06-0310] [Cited by in Crossref: 25] [Cited by in F6Publishing: 18] [Article Influence: 2.8] [Reference Citation Analysis]
44 Liu G, Wang L, Pan J. Chlamydomonas WDR92 in association with R2TP-like complex and multiple DNAAFs to regulate ciliary dynein preassembly. J Mol Cell Biol 2019;11:770-80. [PMID: 30428028 DOI: 10.1093/jmcb/mjy067] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 6.5] [Reference Citation Analysis]
45 Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S. Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. J Hum Genet 2020;65:961-9. [PMID: 32555313 DOI: 10.1038/s10038-020-0790-2] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 4.5] [Reference Citation Analysis]
46 Tu C, Wang W, Hu T, Lu G, Lin G, Tan YQ. Genetic underpinnings of asthenozoospermia. Best Pract Res Clin Endocrinol Metab 2020;34:101472. [PMID: 33191078 DOI: 10.1016/j.beem.2020.101472] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
47 Thiessen KD, Grzegorski SJ, Chin Y, Higuchi LN, Wilkinson CJ, Shavit JA, Kramer KL. Zebrafish otolith biomineralization requires polyketide synthase. Mech Dev 2019;157:1-9. [PMID: 30974150 DOI: 10.1016/j.mod.2019.04.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
48 Furey CG, Antwi P, Kahle KT. Congenital Hydrocephalus. In: Limbrick DD, Leonard JR, editors. Cerebrospinal Fluid Disorders. Cham: Springer International Publishing; 2019. pp. 87-113. [DOI: 10.1007/978-3-319-97928-1_5] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
49 Adivitiya, Kaushik MS, Chakraborty S, Veleri S, Kateriya S. Mucociliary Respiratory Epithelium Integrity in Molecular Defense and Susceptibility to Pulmonary Viral Infections. Biology (Basel) 2021;10:95. [PMID: 33572760 DOI: 10.3390/biology10020095] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
50 Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-922. [PMID: 23796196 DOI: 10.1164/rccm.201301-0059ci] [Cited by in Crossref: 288] [Cited by in F6Publishing: 150] [Article Influence: 32.0] [Reference Citation Analysis]
51 Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet 2014;10:e1004577. [PMID: 25232951 DOI: 10.1371/journal.pgen.1004577] [Cited by in Crossref: 44] [Cited by in F6Publishing: 37] [Article Influence: 5.5] [Reference Citation Analysis]
52 Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc 2014;11:351-9. [PMID: 24498942 DOI: 10.1513/AnnalsATS.201306-194OC] [Cited by in Crossref: 38] [Cited by in F6Publishing: 18] [Article Influence: 4.8] [Reference Citation Analysis]
53 Dean AB, Mitchell DR. Late steps in cytoplasmic maturation of assembly-competent axonemal outer arm dynein in Chlamydomonas require interaction of ODA5 and ODA10 in a complex. Mol Biol Cell 2015;26:3596-605. [PMID: 26310446 DOI: 10.1091/mbc.E15-05-0317] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 1.9] [Reference Citation Analysis]
54 Antony D, Brunner HG, Schmidts M. Ciliary Dyneins and Dynein Related Ciliopathies. Cells 2021;10:1885. [PMID: 34440654 DOI: 10.3390/cells10081885] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
55 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
56 Dong F, Shinohara K, Botilde Y, Nabeshima R, Asai Y, Fukumoto A, Hasegawa T, Matsuo M, Takeda H, Shiratori H, Nakamura T, Hamada H. Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. J Cell Biol 2014;204:203-13. [PMID: 24421334 DOI: 10.1083/jcb.201304076] [Cited by in Crossref: 38] [Cited by in F6Publishing: 33] [Article Influence: 4.8] [Reference Citation Analysis]
57 Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet 2015;97:546-54. [PMID: 26387594 DOI: 10.1016/j.ajhg.2015.08.012] [Cited by in Crossref: 76] [Cited by in F6Publishing: 61] [Article Influence: 10.9] [Reference Citation Analysis]
58 Zur Lage P, Stefanopoulou P, Styczynska-Soczka K, Quinn N, Mali G, von Kriegsheim A, Mill P, Jarman AP. Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP. J Cell Biol 2018;217:2583-98. [PMID: 29743191 DOI: 10.1083/jcb.201709026] [Cited by in Crossref: 28] [Cited by in F6Publishing: 24] [Article Influence: 7.0] [Reference Citation Analysis]
59 Yang X, Zhu D, Zhang H, Jiang Y, Hu X, Geng D, Wang R, Liu R. Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study. Medicine (Baltimore) 2018;97:e13493. [PMID: 30544445 DOI: 10.1097/MD.0000000000013493] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
60 Milla CE. The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr 2016;28:339-47. [PMID: 27070443 DOI: 10.1097/MOP.0000000000000358] [Cited by in Crossref: 8] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
61 Neugebauer JM, Cadwallader AB, Amack JD, Bisgrove BW, Yost HJ. Differential roles for 3-OSTs in the regulation of cilia length and motility. Development 2013;140:3892-902. [PMID: 23946439 DOI: 10.1242/dev.096388] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.0] [Reference Citation Analysis]
62 King SM. Biochemical and physiological analysis of axonemal dyneins. Methods Enzymol 2013;524:123-45. [PMID: 23498738 DOI: 10.1016/B978-0-12-397945-2.00008-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
63 Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC. Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. Exp Mol Med 2018;50:1-17. [PMID: 29959317 DOI: 10.1038/s12276-018-0108-z] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
64 Tate G, Tajiri T, Kishimoto K, Mitsuya T. A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Med Mol Morphol 2015;48:116-22. [PMID: 24912412 DOI: 10.1007/s00795-014-0079-7] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
65 Wei L, Tang Y, Zeng X, Li Y, Zhang S, Deng L, Wang L, Wang D. The transcription factor Sox30 is involved in Nile tilapia spermatogenesis. J Genet Genomics 2021:S1673-8527(21)00345-3. [PMID: 34801758 DOI: 10.1016/j.jgg.2021.11.003] [Reference Citation Analysis]
66 Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Am J Hum Genet 2018;102:956-72. [PMID: 29727692 DOI: 10.1016/j.ajhg.2018.03.024] [Cited by in Crossref: 33] [Cited by in F6Publishing: 32] [Article Influence: 8.3] [Reference Citation Analysis]
67 Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 2013;93:357-67. [PMID: 23849778 DOI: 10.1016/j.ajhg.2013.06.009] [Cited by in Crossref: 99] [Cited by in F6Publishing: 86] [Article Influence: 11.0] [Reference Citation Analysis]
68 Sahu I, Haque AKMA, Weidensee B, Weinmann P, Kormann MSD. Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases. Mol Ther 2019;27:803-23. [PMID: 30905577 DOI: 10.1016/j.ymthe.2019.02.019] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 5.0] [Reference Citation Analysis]
69 Mabrouk I, Al-harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-zahrani HJ, Al-shamary ZA, Al-harbi A, Amselem S, Escudier E, Legendre M. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. J Hum Genet. [DOI: 10.1038/s10038-021-01006-9] [Reference Citation Analysis]
70 Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM. Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cell Mol Life Sci 2020;77:2029-48. [PMID: 31781811 DOI: 10.1007/s00018-019-03389-7] [Cited by in Crossref: 41] [Cited by in F6Publishing: 40] [Article Influence: 13.7] [Reference Citation Analysis]
71 Deng S, Wu S, Xia H, Xiong W, Deng X, Liao J, Deng H, Yuan L. Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. Biosci Rep 2020;40:BSR20192510. [PMID: 32490514 DOI: 10.1042/BSR20192510] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
72 Yoshiba S, Hamada H. Roles of cilia, fluid flow, and Ca2+ signaling in breaking of left-right symmetry. Trends Genet 2014;30:10-7. [PMID: 24091059 DOI: 10.1016/j.tig.2013.09.001] [Cited by in Crossref: 84] [Cited by in F6Publishing: 75] [Article Influence: 9.3] [Reference Citation Analysis]
73 Rehman S, Gora AH, Siriyappagouder P, Brugman S, Fernandes JMO, Dias J, Kiron V. Zebrafish intestinal transcriptome highlights subdued inflammatory responses to dietary soya bean and efficacy of yeast β-glucan. J Fish Dis 2021. [PMID: 34237181 DOI: 10.1111/jfd.13484] [Reference Citation Analysis]
74 Aprea I, Raidt J, Höben IM, Loges NT, Nöthe-Menchen T, Pennekamp P, Olbrich H, Kaiser T, Biebach L, Tüttelmann F, Horvath J, Schubert M, Krallmann C, Kliesch S, Omran H. 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:e1009306. [PMID: 33635866 DOI: 10.1371/journal.pgen.1009306] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
75 Kurokami T, Koeda T, Migita O, Hata K. Reading disability due to an ocular motor disorder: A case of an adolescent girl with a previous diagnosis of dyslexia. Brain Dev 2019;41:187-90. [PMID: 30266219 DOI: 10.1016/j.braindev.2018.09.003] [Reference Citation Analysis]
76 Dutcher SK. The awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtii. Cytoskeleton (Hoboken) 2014;71:79-94. [PMID: 24272949 DOI: 10.1002/cm.21157] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 2.8] [Reference Citation Analysis]
77 Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, Haspel JA, Piston DW, Brody SL. Establishment of the early cilia preassembly protein complex during motile ciliogenesis. Proc Natl Acad Sci U S A 2018;115:E1221-8. [PMID: 29358401 DOI: 10.1073/pnas.1715915115] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 8.3] [Reference Citation Analysis]
78 Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr 2013;163:383-7. [PMID: 23477994 DOI: 10.1016/j.jpeds.2013.01.061] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 1.3] [Reference Citation Analysis]
79 Duong Phu M, Bross S, Burkhalter MD, Philipp M. Limitations and opportunities in the pharmacotherapy of ciliopathies. Pharmacol Ther 2021;225:107841. [PMID: 33771583 DOI: 10.1016/j.pharmthera.2021.107841] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
80 Tamalet A, Blanchon S. [Congenital ciliary dyskinesia. Focus]. Rev Pneumol Clin 2013;69:217-24. [PMID: 23871404 DOI: 10.1016/j.pneumo.2013.05.007] [Reference Citation Analysis]
81 Lee C, Cox RM, Papoulas O, Horani A, Drew K, Devitt CC, Brody SL, Marcotte EM, Wallingford JB. Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins. Elife 2020;9:e58662. [PMID: 33263282 DOI: 10.7554/eLife.58662] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
82 Fauser F, Vilarrasa-Blasi J, Onishi M, Ramundo S, Patena W, Millican M, Osaki J, Philp C, Nemeth M, Salomé PA, Li X, Wakao S, Kim RG, Kaye Y, Grossman AR, Niyogi KK, Merchant SS, Cutler SR, Walter P, Dinneny JR, Jonikas MC, Jinkerson RE. Systematic characterization of gene function in the photosynthetic alga Chlamydomonas reinhardtii. Nat Genet 2022. [PMID: 35513725 DOI: 10.1038/s41588-022-01052-9] [Reference Citation Analysis]
83 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, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM; UK10K Rare Group. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun 2017;8:14279. [PMID: 28176794 DOI: 10.1038/ncomms14279] [Cited by in Crossref: 88] [Cited by in F6Publishing: 77] [Article Influence: 17.6] [Reference Citation Analysis]
84 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, Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB; University of Washington Center for Mendelian Genomics. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 2016;48:648-56. [PMID: 27158779 DOI: 10.1038/ng.3558] [Cited by in Crossref: 72] [Cited by in F6Publishing: 65] [Article Influence: 12.0] [Reference Citation Analysis]
85 Horani A, Ferkol TW, Dutcher SK, Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev 2016;18:18-24. [PMID: 26476603 DOI: 10.1016/j.prrv.2015.09.001] [Cited by in Crossref: 48] [Cited by in F6Publishing: 68] [Article Influence: 6.9] [Reference Citation Analysis]
86 Tang C, Klukovich R, Peng H, Wang Z, Yu T, Zhang Y, Zheng H, Klungland A, Yan W. ALKBH5-dependent m6A demethylation controls splicing and stability of long 3'-UTR mRNAs in male germ cells. Proc Natl Acad Sci U S A 2018;115:E325-33. [PMID: 29279410 DOI: 10.1073/pnas.1717794115] [Cited by in Crossref: 158] [Cited by in F6Publishing: 167] [Article Influence: 31.6] [Reference Citation Analysis]
87 Li Y, Zhao L, Yuan S, Zhang J, Sun Z. Axonemal dynein assembly requires the R2TP complex component Pontin. Development 2017;144:4684-93. [PMID: 29113992 DOI: 10.1242/dev.152314] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 4.4] [Reference Citation Analysis]
88 Osinka A, Poprzeczko M, Zielinska MM, Fabczak H, Joachimiak E, Wloga D. Ciliary Proteins: Filling the Gaps. Recent Advances in Deciphering the Protein Composition of Motile Ciliary Complexes. Cells 2019;8:E730. [PMID: 31319499 DOI: 10.3390/cells8070730] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 5.0] [Reference Citation Analysis]
89 Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol 2015;53:563-73. [PMID: 25789548 DOI: 10.1165/rcmb.2014-0483OC] [Cited by in Crossref: 82] [Cited by in F6Publishing: 43] [Article Influence: 11.7] [Reference Citation Analysis]
90 Viswanadha R, Hunter EL, Yamamoto R, Wirschell M, Alford LM, Dutcher SK, Sale WS. The ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking. Cytoskeleton (Hoboken) 2014;71:573-86. [PMID: 25252184 DOI: 10.1002/cm.21192] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 3.3] [Reference Citation Analysis]
91 Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015;4:2. [PMID: 25610612 DOI: 10.1186/s13630-014-0011-8] [Cited by in Crossref: 94] [Cited by in F6Publishing: 74] [Article Influence: 13.4] [Reference Citation Analysis]
92 Catana A, Apostu AP. The determination factors of left-right asymmetry disorders- a short review. Clujul Med 2017;90:139-46. [PMID: 28559696 DOI: 10.15386/cjmed-701] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
93 Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM; Uk10k. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat 2013;34:462-72. [PMID: 23255504 DOI: 10.1002/humu.22261] [Cited by in Crossref: 114] [Cited by in F6Publishing: 108] [Article Influence: 12.7] [Reference Citation Analysis]
94 Deng H, Xia H, Deng S. Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med 2015;16:e19. [PMID: 26258520 DOI: 10.1017/erm.2014.22] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 4.7] [Reference Citation Analysis]
95 Mianné J, Ahmed E, Bourguignon C, Fieldes M, Vachier I, Bourdin A, Assou S, De Vos J. Induced Pluripotent Stem Cells for Primary Ciliary Dyskinesia Modeling and Personalized Medicine. Am J Respir Cell Mol Biol 2018;59:672-83. [PMID: 30230352 DOI: 10.1165/rcmb.2018-0213TR] [Cited by in Crossref: 7] [Cited by in F6Publishing: 2] [Article Influence: 2.3] [Reference Citation Analysis]
96 Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet 2012;91:958-64. [PMID: 23122589 DOI: 10.1016/j.ajhg.2012.10.003] [Cited by in Crossref: 125] [Cited by in F6Publishing: 110] [Article Influence: 13.9] [Reference Citation Analysis]
97 Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update 2015;21:455-85. [PMID: 25888788 DOI: 10.1093/humupd/dmv020] [Cited by in Crossref: 140] [Cited by in F6Publishing: 128] [Article Influence: 20.0] [Reference Citation Analysis]
98 Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018;138:e653-711. [PMID: 30571578 DOI: 10.1161/CIR.0000000000000606] [Cited by in Crossref: 125] [Cited by in F6Publishing: 60] [Article Influence: 41.7] [Reference Citation Analysis]
99 Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet 2017;100:160-8. [PMID: 28041644 DOI: 10.1016/j.ajhg.2016.11.019] [Cited by in Crossref: 91] [Cited by in F6Publishing: 79] [Article Influence: 15.2] [Reference Citation Analysis]
100 Mata M, Milian L, Armengot M, Carda C. Gene mutations in primary ciliary dyskinesia related to otitis media. Curr Allergy Asthma Rep 2014;14:420. [PMID: 24459089 DOI: 10.1007/s11882-014-0420-1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
101 Inaba Y, Shinohara K, Botilde Y, Nabeshima R, Takaoka K, Ajima R, Lamri L, Takeda H, Saga Y, Nakamura T, Hamada H. Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6. Genes Cells 2016;21:728-39. [PMID: 27353389 DOI: 10.1111/gtc.12380] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 4.3] [Reference Citation Analysis]
102 Ferkol T, Leigh MW. Primary Ciliary Dyskinesia. Kendig's Disorders of the Respiratory Tract in Children. Elsevier; 2019. pp. 1034-1043.e4. [DOI: 10.1016/b978-0-323-44887-1.00071-7] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
103 Viswanadha R, Sale WS, Porter ME. Ciliary Motility: Regulation of Axonemal Dynein Motors. Cold Spring Harb Perspect Biol 2017;9:a018325. [PMID: 28765157 DOI: 10.1101/cshperspect.a018325] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 10.6] [Reference Citation Analysis]
104 Ji ZY, Sha YW, Ding L, Li P. Genetic factors contributing to human primary ciliary dyskinesia and male infertility. Asian J Androl 2017;19:515-20. [PMID: 27270341 DOI: 10.4103/1008-682X.181227] [Cited by in Crossref: 18] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
105 Lehti MS, Sironen A. Formation and function of sperm tail structures in association with sperm motility defects†. Biology of Reproduction 2017;97:522-36. [DOI: 10.1093/biolre/iox096] [Cited by in Crossref: 74] [Cited by in F6Publishing: 68] [Article Influence: 14.8] [Reference Citation Analysis]
106 Zietkiewicz E, Bukowy-Bieryllo Z, Rabiasz A, Daca-Roszak P, Wojda A, Voelkel K, Rutkiewicz E, Pogorzelski A, Rasteiro M, Witt M. CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. Am J Respir Cell Mol Biol 2019;61:440-9. [PMID: 30916986 DOI: 10.1165/rcmb.2018-0260OC] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
107 Poprzeczko M, Bicka M, Farahat H, Bazan R, Osinka A, Fabczak H, Joachimiak E, Wloga D. Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia. Cells 2019;8:E1614. [PMID: 31835861 DOI: 10.3390/cells8121614] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 3.7] [Reference Citation Analysis]
108 Nistal M, Paniagua R, González-peramato P. Nonneoplastic Diseases of the Testis. Urologic Surgical Pathology. Elsevier; 2020. pp. 549-730.e81. [DOI: 10.1016/b978-0-323-54941-7.00012-8] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
109 Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015;4:2. [PMID: 25610612 DOI: 10.1186/s13630-014-0011-8] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
110 Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One 2013;8:e59436. [PMID: 23527195 DOI: 10.1371/journal.pone.0059436] [Cited by in Crossref: 60] [Cited by in F6Publishing: 55] [Article Influence: 6.7] [Reference Citation Analysis]
111 Reula A, Lucas J, Moreno-galdó A, Romero T, Milara X, Carda C, Mata-roig M, Escribano A, Dasi F, Armengot-carceller M. New insights in primary ciliary dyskinesia. Expert Opinion on Orphan Drugs 2017;5:537-48. [DOI: 10.1080/21678707.2017.1324780] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 2.2] [Reference Citation Analysis]
112 Yoke H, Ueno H, Narita A, Sakai T, Horiuchi K, Shingyoji C, Hamada H, Shinohara K. Rsph4a is essential for the triplet radial spoke head assembly of the mouse motile cilia. PLoS Genet 2020;16:e1008664. [PMID: 32203505 DOI: 10.1371/journal.pgen.1008664] [Cited by in Crossref: 4] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
113 Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N, Moreno-Galdó A. Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia. J Clin Med 2020;9:E3603. [PMID: 33182294 DOI: 10.3390/jcm9113603] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
114 Yang L, Zeng C, Zhang Y, Wang F, Takamiya M, Strähle U. Functions of thioredoxin1 in brain development and in response to environmental chemicals in zebrafish embryos. Toxicology Letters 2019;314:43-52. [DOI: 10.1016/j.toxlet.2019.07.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
115 Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 2020;8:202-16. [PMID: 31624012 DOI: 10.1016/S2213-2600(19)30374-1] [Cited by in Crossref: 45] [Cited by in F6Publishing: 21] [Article Influence: 15.0] [Reference Citation Analysis]
116 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in Crossref: 63] [Cited by in F6Publishing: 55] [Article Influence: 7.9] [Reference Citation Analysis]
117 Inaba K, Mizuno K. Sperm dysfunction and ciliopathy. Reprod Med Biol 2016;15:77-94. [PMID: 29259424 DOI: 10.1007/s12522-015-0225-5] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 4.6] [Reference Citation Analysis]
118 Sha Y, Wei X, Ding L, Mei L, Huang X, Lin S, Su Z, Kong L, Zhang Y, Ji Z. DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. Ann Hum Genet 2020;84:271-9. [PMID: 31841227 DOI: 10.1111/ahg.12369] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 4.7] [Reference Citation Analysis]
119 Geremek M, Ziętkiewicz E, Bruinenberg M, Franke L, Pogorzelski A, Wijmenga C, Witt M. Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients. PLoS One 2014;9:e88216. [PMID: 24516614 DOI: 10.1371/journal.pone.0088216] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 1.6] [Reference Citation Analysis]
120 Sun M, Zhang Y, JiyunYang, Wang Y, Tan H, Wang H, Lei T, Li X, Zhang X, Xiong W, Dou K, Ma Y. Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family. J Assist Reprod Genet 2020;37:2159-70. [PMID: 32638265 DOI: 10.1007/s10815-020-01859-7] [Reference Citation Analysis]
121 Hou Y, Witman GB. Dynein and intraflagellar transport. Exp Cell Res 2015;334:26-34. [PMID: 25725253 DOI: 10.1016/j.yexcr.2015.02.017] [Cited by in Crossref: 40] [Cited by in F6Publishing: 34] [Article Influence: 5.7] [Reference Citation Analysis]
122 Ide T, Twan WK, Lu H, Ikawa Y, Lim LX, Henninger N, Nishimura H, Takaoka K, Narasimhan V, Yan X, Shiratori H, Roy S, Hamada H. CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components. PLoS Genet 2020;16:e1009232. [PMID: 33347437 DOI: 10.1371/journal.pgen.1009232] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
123 Chandrasekar G, Vesterlund L, Hultenby K, Tapia-Páez I, Kere J. The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function. PLoS One 2013;8:e63123. [PMID: 23650548 DOI: 10.1371/journal.pone.0063123] [Cited by in Crossref: 45] [Cited by in F6Publishing: 36] [Article Influence: 5.0] [Reference Citation Analysis]
124 Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013;93:336-45. [PMID: 23891469 DOI: 10.1016/j.ajhg.2013.06.007] [Cited by in Crossref: 131] [Cited by in F6Publishing: 111] [Article Influence: 14.6] [Reference Citation Analysis]
125 Wilkinson RN, Jopling C, van Eeden FJ. Zebrafish as a model of cardiac disease. Prog Mol Biol Transl Sci 2014;124:65-91. [PMID: 24751427 DOI: 10.1016/B978-0-12-386930-2.00004-5] [Cited by in Crossref: 28] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
126 Sigg MA, Menchen T, Lee C, Johnson J, Jungnickel MK, Choksi SP, Garcia G 3rd, Busengdal H, Dougherty GW, Pennekamp P, Werner C, Rentzsch F, Florman HM, Krogan N, Wallingford JB, Omran H, Reiter JF. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Dev Cell 2017;43:744-762.e11. [PMID: 29257953 DOI: 10.1016/j.devcel.2017.11.014] [Cited by in Crossref: 52] [Cited by in F6Publishing: 43] [Article Influence: 13.0] [Reference Citation Analysis]
127 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. Absence or mislocalization of DNAH5 is a characteristic marker for motile ciliary abnormality in nasal polyps. Laryngoscope 2018;128:E97-E104. [PMID: 29148098 DOI: 10.1002/lary.26983] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
128 Miao C, Jiang Q, Li H, Zhang Q, Bai B, Bao Y, Zhang T. Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans. G3 (Bethesda) 2016;6:3307-16. [PMID: 27543293 DOI: 10.1534/g3.116.033696] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 1.8] [Reference Citation Analysis]
129 Haward F, Maslon MM, Yeyati PL, Bellora N, Hansen JN, Aitken S, Lawson J, von Kriegsheim A, Wachten D, Mill P, Adams IR, Caceres JF. Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function. Elife 2021;10:e65104. [PMID: 34338635 DOI: 10.7554/eLife.65104] [Reference Citation Analysis]
130 Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, Bornaun H, Tanidir IC, Van Dinh T, Brunner HG, Walentek P, Arnold SJ, Backofen R, Schmidts M. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Front Genet 2022;13:861236. [DOI: 10.3389/fgene.2022.861236] [Reference Citation Analysis]
131 Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM, Pals G, Mitchison HM; UK10K. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet 2013;92:88-98. [PMID: 23261303 DOI: 10.1016/j.ajhg.2012.11.002] [Cited by in Crossref: 117] [Cited by in F6Publishing: 104] [Article Influence: 11.7] [Reference Citation Analysis]
132 Kageyama H, Miyajima M, Ogino I, Nakajima M, Shimoji K, Fukai R, Miyake N, Nishiyama K, Matsumoto N, Arai H. Panventriculomegaly with a wide foramen of Magendie and large cisterna magna. J Neurosurg 2016;124:1858-66. [PMID: 26636390 DOI: 10.3171/2015.6.JNS15162] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
133 Cheong A, Degani R, Tremblay KD, Mager J. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. Hum Mol Genet 2019;28:2775-84. [PMID: 31107948 DOI: 10.1093/hmg/ddz106] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
134 Cho KJ, Noh SH, Han SM, Choi WI, Kim HY, Yu S, Lee JS, Rim JH, Lee MG, Hildebrandt F, Gee HY. ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS Genet 2018;14:e1007316. [PMID: 29601588 DOI: 10.1371/journal.pgen.1007316] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 5.3] [Reference Citation Analysis]
135 Li Y, Yagi H, Onuoha EO, Damerla RR, Francis R, Furutani Y, Tariq M, King SM, Hendricks G, Cui C, Saydmohammed M, Lee DM, Zahid M, Sami I, Leatherbury L, Pazour GJ, Ware SM, Nakanishi T, Goldmuntz E, Tsang M, Lo CW. DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genet 2016;12:e1005821. [PMID: 26918822 DOI: 10.1371/journal.pgen.1005821] [Cited by in Crossref: 56] [Cited by in F6Publishing: 46] [Article Influence: 9.3] [Reference Citation Analysis]
136 Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Van Daele S, Malfroot A, Godding V. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis. 2014;9:11. [PMID: 24450482 DOI: 10.1186/1750-1172-9-11] [Cited by in Crossref: 79] [Cited by in F6Publishing: 70] [Article Influence: 9.9] [Reference Citation Analysis]
137 Praveen K, Davis EE, Katsanis N. Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep 2015;7:36. [PMID: 25926987 DOI: 10.12703/P7-36] [Cited by in Crossref: 43] [Cited by in F6Publishing: 29] [Article Influence: 6.1] [Reference Citation Analysis]
138 Choksi SP, Babu D, Lau D, Yu X, Roy S. Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development 2014;141:3410-9. [PMID: 25139857 DOI: 10.1242/dev.108209] [Cited by in Crossref: 62] [Cited by in F6Publishing: 54] [Article Influence: 7.8] [Reference Citation Analysis]
139 Leigh MW, Horani A, Kinghorn B, O'Connor MG, Zariwala MA, Knowles MR. Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Transl Sci Rare Dis 2019;4:51-75. [PMID: 31572664 DOI: 10.3233/TRD-190036] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
140 Allan CM. RABL-regulated pathways: a new tale in sperm function. Asian J Androl 2013;15:87-8. [PMID: 23223029 DOI: 10.1038/aja.2012.137] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
141 Fabczak H, Osinka A. Role of the Novel Hsp90 Co-Chaperones in Dynein Arms' Preassembly. Int J Mol Sci 2019;20:E6174. [PMID: 31817850 DOI: 10.3390/ijms20246174] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 4.3] [Reference Citation Analysis]
142 Lyons PJ, Sapio MR, Fricker LD. Zebrafish cytosolic carboxypeptidases 1 and 5 are essential for embryonic development. J Biol Chem 2013;288:30454-62. [PMID: 24022483 DOI: 10.1074/jbc.M113.497933] [Cited by in Crossref: 16] [Cited by in F6Publishing: 8] [Article Influence: 1.8] [Reference Citation Analysis]
143 Shoemark A. Applications of emerging transmission electron microscopy technology in PCD research and diagnosis. Ultrastruct Pathol 2017;41:408-14. [PMID: 28922052 DOI: 10.1080/01913123.2017.1365789] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
144 Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet 2013;93:346-56. [PMID: 23891471 DOI: 10.1016/j.ajhg.2013.07.009] [Cited by in Crossref: 113] [Cited by in F6Publishing: 101] [Article Influence: 12.6] [Reference Citation Analysis]
145 Mali GR, Yeyati PL, Mizuno S, Dodd DO, Tennant PA, Keighren MA, Zur Lage P, Shoemark A, Garcia-Munoz A, Shimada A, Takeda H, Edlich F, Takahashi S, von Kreigsheim A, Jarman AP, Mill P. ZMYND10 functions in a chaperone relay during axonemal dynein assembly. Elife 2018;7:e34389. [PMID: 29916806 DOI: 10.7554/eLife.34389] [Cited by in Crossref: 23] [Cited by in F6Publishing: 17] [Article Influence: 5.8] [Reference Citation Analysis]
146 Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nat Rev Cardiol 2021. [PMID: 34862511 DOI: 10.1038/s41569-021-00635-z] [Reference Citation Analysis]
147 Szczałuba K, Nowakowska B, Sobecka K, Smyk M, Castaneda J, Klapecki J, Kutkowska-Kaźmierczak A, Śmigiel R, Bocian E, Radkowski M, Demkow U. Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies. Adv Exp Med Biol 2016;912:1-9. [PMID: 26987320 DOI: 10.1007/5584_2016_235] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
148 Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H; UK10K Consortium. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012;91:672-84. [PMID: 23022101 DOI: 10.1016/j.ajhg.2012.08.016] [Cited by in Crossref: 194] [Cited by in F6Publishing: 171] [Article Influence: 19.4] [Reference Citation Analysis]
149 Guo Z, Chen W, Huang J, Wang L, Qian L. Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations. J Hum Genet 2019;64:711-9. [PMID: 31186518 DOI: 10.1038/s10038-019-0609-1] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
150 Alzaid M, Al-Mobaireek K, Almannai M, Mukhtar G, Eltahir S, Zafar A, Zada AP, Alotaibi W. Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience. Int J Pediatr Adolesc Med 2021;8:258-63. [PMID: 34401452 DOI: 10.1016/j.ijpam.2021.03.002] [Reference Citation Analysis]
151 Yamaguchi H, Oda T, Kikkawa M, Takeda H. Systematic studies of all PIH proteins in zebrafish reveal their distinct roles in axonemal dynein assembly. Elife 2018;7:e36979. [PMID: 29741156 DOI: 10.7554/eLife.36979] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 6.3] [Reference Citation Analysis]
152 Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B. The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. Human Molecular Genetics 2014;23:563-77. [DOI: 10.1093/hmg/ddt445] [Cited by in Crossref: 22] [Cited by in F6Publishing: 24] [Article Influence: 2.4] [Reference Citation Analysis]
153 Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013;188:913-22. [PMID: 23796196 DOI: 10.1164/rccm.201301-0059CI] [Reference Citation Analysis]
154 Lin H, Dutcher SK. Genetic and genomic approaches to identify genes involved in flagellar assembly in Chlamydomonas reinhardtii. Methods Cell Biol 2015;127:349-86. [PMID: 25837400 DOI: 10.1016/bs.mcb.2014.12.001] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
155 Knowles MR, Zariwala M, Leigh M. Primary Ciliary Dyskinesia. Clin Chest Med 2016;37:449-61. [PMID: 27514592 DOI: 10.1016/j.ccm.2016.04.008] [Cited by in Crossref: 92] [Cited by in F6Publishing: 71] [Article Influence: 15.3] [Reference Citation Analysis]
156 Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr 2013;172:151-62. [PMID: 22777640 DOI: 10.1007/s00431-012-1785-6] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
157 Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet 2018;103:995-1008. [PMID: 30471718 DOI: 10.1016/j.ajhg.2018.10.020] [Cited by in Crossref: 49] [Cited by in F6Publishing: 44] [Article Influence: 12.3] [Reference Citation Analysis]
158 Yamamoto R, Yanagi S, Nagao M, Yamasaki Y, Tanaka Y, Sale WS, Yagi T, Kon T. Mutations in PIH proteins MOT48, TWI1 and PF13 define common and unique steps for preassembly of each, different ciliary dynein. PLoS Genet 2020;16:e1009126. [PMID: 33141819 DOI: 10.1371/journal.pgen.1009126] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
159 Zur Lage P, Xi Z, Lennon J, Hunter I, Chan WK, Bolado Carrancio A, von Kriegsheim A, Jarman AP. The Drosophila orthologue of the primary ciliary dyskinesia-associated gene, DNAAF3, is required for axonemal dynein assembly. Biol Open 2021;10:bio058812. [PMID: 34553759 DOI: 10.1242/bio.058812] [Reference Citation Analysis]
160 Desai PB, Freshour JR, Mitchell DR. Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes. Cytoskeleton (Hoboken) 2015;72:16-28. [PMID: 25558044 DOI: 10.1002/cm.21206] [Cited by in Crossref: 19] [Cited by in F6Publishing: 15] [Article Influence: 2.7] [Reference Citation Analysis]
161 Tate G. Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. Med Mol Morphol 2021;54:275-80. [PMID: 34008076 DOI: 10.1007/s00795-021-00287-5] [Reference Citation Analysis]
162 Nüßlein T, Brinkmann F, Ahrens P, Ebsen M, Jung A, Kirchberger W, Kneißl A, Koerner-rettberg C, Linz-keul H, Loges N, Theegarten D, Seithe H, Sendler J, Werner C, Omran H. Diagnostik der primären ziliären Dyskinesie: Empfehlungen in Zusammenarbeit mit Kartagener-Syndrom und Primäre Ciliäre Dyskinesie e. V. Monatsschr Kinderheilkd 2013;161:406-16. [DOI: 10.1007/s00112-012-2798-y] [Cited by in Crossref: 11] [Cited by in F6Publishing: 1] [Article Influence: 1.2] [Reference Citation Analysis]
163 Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS; UK10K Consortium. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet 2015;24:1410-9. [PMID: 25361962 DOI: 10.1093/hmg/ddu555] [Cited by in Crossref: 50] [Cited by in F6Publishing: 47] [Article Influence: 6.3] [Reference Citation Analysis]
164 Sha YW, Ding L, Li P. Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl 2014;16:101-6. [PMID: 24369140 DOI: 10.4103/1008-682X.122192] [Cited by in Crossref: 29] [Cited by in F6Publishing: 13] [Article Influence: 3.6] [Reference Citation Analysis]
165 Lucas JS, Paff T, Goggin P, Haarman E. Diagnostic Methods in Primary Ciliary Dyskinesia. Paediatric Respiratory Reviews 2016;18:8-17. [DOI: 10.1016/j.prrv.2015.07.017] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 1.5] [Reference Citation Analysis]
166 Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Touré A, Mitchell V, Amselem S, Legendre M. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. Am J Hum Genet 2020;106:153-69. [PMID: 31978331 DOI: 10.1016/j.ajhg.2019.12.010] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 9.0] [Reference Citation Analysis]
167 Tsai YC, Teng YN, Hung JH, Wu CH, Kuo YT, Kuo PL, Chiu CC, Huang B. Correlation between leucine rich domain and the stability of LRWD1 protein in human NT2/D1 cells. Adv Med Sci 2014;59:266-72. [PMID: 25170821 DOI: 10.1016/j.advms.2014.07.002] [Reference Citation Analysis]