| H00564 | |
| H番号 | H00564 |
| 名称 | 原発性繊毛ジスキネジア |
| 概要 | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome. |
| カテゴリ | 呼吸器系疾患 |
| ネットワーク | nt06509(H00564) DNA replication |
| 病因遺伝子 | (CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA75.Y ICD-10: J98.0 MeSH: D007619 OMIM: 244400 606763 608644 608647 610852 611884 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 615294 615444 615451 615481 615482 615500 615504 615505 615872 616037 616481 616726 617091 617092 300991 617577 618063 618254 618300 618449 618695 618699 618781 618801 619436 619466 620032 620197 620356 620438 |
| 文献 | PMID:21898032 著者 Bergmann C タイトル Educational paper: ciliopathies. 雑誌 Eur J Pediatr 171:1285-300 (2012) DOI:10.1007/s00431-011-1553-z PMID:19606528 著者 Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA タイトル Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. 雑誌 Genet Med 11:473-87 (2009) DOI:10.1097/GIM.0b013e3181a53562 PMID:21926394 著者 Zariwala MA, Omran H, Ferkol TW タイトル The emerging genetics of primary ciliary dyskinesia. 雑誌 Proc Am Thorac Soc 8:430-3 (2011) DOI:10.1513/pats.201103-023SD PMID:17059358 著者 Zariwala MA, Knowles MR, Omran H タイトル Genetic defects in ciliary structure and function. 雑誌 Annu Rev Physiol 69:423-50 (2007) DOI:10.1146/annurev.physiol.69.040705.141301 PMID:34361034 著者 Brennan SK, Ferkol TW, Davis SD タイトル Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. 雑誌 Int J Mol Sci 22:8272 (2021) DOI:10.3390/ijms22158272 PMID:10577904 (CILD1) 著者 Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B タイトル Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 雑誌 Am J Hum Genet 65:1508-19 (1999) DOI:10.1086/302683 PMID:22387996 (CILD2) 著者 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 タイトル Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 雑誌 Nat Genet 44:381-9, S1-2 (2012) DOI:10.1038/ng.1106 PMID:11788826 (CILD3) 著者 Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H タイトル Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 雑誌 Nat Genet 30:143-4 (2002) DOI:10.1038/ng817 PMID:23022101 (CILD5) 著者 Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H タイトル Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 雑誌 Am J Hum Genet 91:672-84 (2012) DOI:10.1016/j.ajhg.2012.08.016 PMID:17360648 (CILD6) 著者 Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S タイトル A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. 雑誌 Proc Natl Acad Sci U S A 104:3336-41 (2007) DOI:10.1073/pnas.0611405104 PMID:12142464 (CILD7) 著者 Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE タイトル Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. 雑誌 Proc Natl Acad Sci U S A 99:10282-6 (2002) DOI:10.1073/pnas.152337699 PMID:18950741 (CILD9) 著者 Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H タイトル DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 雑誌 Am J Hum Genet 83:547-58 (2008) DOI:10.1016/j.ajhg.2008.10.001 PMID:19052621 (CILD10) 著者 Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H タイトル Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. 雑誌 Nature 456:611-6 (2008) DOI:10.1038/nature07471 PMID:19200523 (CILD11 CILD12) 著者 Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM タイトル Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 雑誌 Am J Hum Genet 84:197-209 (2009) DOI:10.1016/j.ajhg.2009.01.011 PMID:19944400 (CILD13) 著者 Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nurnberg G, Nurnberg P, Reinhardt R, Omran H タイトル Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 雑誌 Am J Hum Genet 85:883-9 (2009) DOI:10.1016/j.ajhg.2009.10.018 PMID:23255504 (CILD14 CILD15) 著者 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 タイトル Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 雑誌 Hum Mutat 34:462-72 (2013) DOI:10.1002/humu.22261 PMID:21496787 (CILD16) 著者 Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R タイトル Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 雑誌 Am J Hum Genet 88:599-607 (2011) DOI:10.1016/j.ajhg.2011.03.018 PMID:22581229 (CILD17) 著者 Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Haffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA タイトル CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 雑誌 Nat Genet 44:714-9 (2012) DOI:10.1038/ng.2277 PMID:23040496 (CILD18) 著者 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 タイトル Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 雑誌 Am J Hum Genet 91:685-93 (2012) DOI:10.1016/j.ajhg.2012.08.022 PMID:23122589 (CILD19) 著者 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, Toure A, Escudier E, Amselem S タイトル Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 雑誌 Am J Hum Genet 91:958-64 (2012) DOI:10.1016/j.ajhg.2012.10.003 PMID:23261302 (CILD20) 著者 Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA タイトル Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 雑誌 Am J Hum Genet 92:99-106 (2013) DOI:10.1016/j.ajhg.2012.11.003 PMID:23354437 (CILD21) 著者 Wirschell M, Olbrich H, Werner C, Tritschler D, Bower R, Sale WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlen B, Horak E, Kohler G, Nurnberg P, Nurnberg G, Porter ME, Omran H タイトル The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 雑誌 Nat Genet 45:262-8 (2013) DOI:10.1038/ng.2533 PMID:23891471 (CILD22) 著者 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 タイトル Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. 雑誌 Am J Hum Genet 93:346-56 (2013) DOI:10.1016/j.ajhg.2013.07.009 PMID:23849778 (CILD23) 著者 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, Kohler G, Haffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H タイトル ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 雑誌 Am J Hum Genet 93:357-67 (2013) DOI:10.1016/j.ajhg.2013.06.009 PMID:23993197 (CILD24) 著者 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 タイトル Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 雑誌 Am J Hum Genet 93:561-70 (2013) DOI:10.1016/j.ajhg.2013.07.013 PMID:23872636 (CILD25) 著者 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, Kohler 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 タイトル DYX1C1 is required for axonemal dynein assembly and ciliary motility. 雑誌 Nat Genet 45:995-1003 (2013) DOI:10.1038/ng.2707 PMID:24094744 (CILD26 CILD27) 著者 Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F タイトル Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 雑誌 Am J Hum Genet 93:672-86 (2013) DOI:10.1016/j.ajhg.2013.08.015 PMID:24055112 (CILD28) 著者 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 タイトル Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 雑誌 Am J Hum Genet 93:711-20 (2013) DOI:10.1016/j.ajhg.2013.07.025 PMID:24747639 (CILD29) 著者 Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Kohler G, Jaspers M, Boon M, Griese M, Schmitt-Grohe S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H タイトル Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 雑誌 Nat Genet 46:646-51 (2014) DOI:10.1038/ng.2961 PMID:24067530 (CILD30) 著者 Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B タイトル The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. 雑誌 Hum Mol Genet 23:563-77 (2014) DOI:10.1093/hmg/ddt445 PMID:26073779 (CILD32) 著者 Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Desir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M タイトル RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 雑誌 Am J Hum Genet 97:153-62 (2015) DOI:10.1016/j.ajhg.2015.05.004 PMID:26387594 (CILD33) 著者 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, Altmuller J, Rommelmann F, Omran H タイトル Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. 雑誌 Am J Hum Genet 97:546-54 (2015) DOI:10.1016/j.ajhg.2015.08.012 PMID:27486783 (CILD34) 著者 El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lores P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Toure A, Amselem S タイトル Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. 雑誌 Am J Hum Genet 99:489-500 (2016) DOI:10.1016/j.ajhg.2016.06.022 PMID:27486780 (CILD35) 著者 Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H タイトル TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. 雑誌 Am J Hum Genet 99:460-9 (2016) DOI:10.1016/j.ajhg.2016.06.014 PMID:28041644 (CILD36) 著者 Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Hoben IM, Grosse-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D タイトル Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 雑誌 Am J Hum Genet 100:160-168 (2017) DOI:10.1016/j.ajhg.2016.11.019 PMID:25927852 (CILD37) 著者 Imtiaz F, Allam R, Ramzan K, Al-Sayed M タイトル Variation in DNAH1 may contribute to primary ciliary dyskinesia. 雑誌 BMC Med Genet 16:14 (2015) DOI:10.1186/s12881-015-0162-5 PMID:29727692 (CILD38) 著者 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 タイトル C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 雑誌 Am J Hum Genet 102:956-972 (2018) DOI:10.1016/j.ajhg.2018.03.024 PMID:30388400 (CILD39) 著者 Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M, Boycott KM, Bastin P, Sheridan EG タイトル Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. 雑誌 Am J Hum Genet 103:727-739 (2018) DOI:10.1016/j.ajhg.2018.10.003 PMID:30471717 (CILD40) 著者 Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM タイトル Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. 雑誌 Am J Hum Genet 103:984-994 (2018) DOI:10.1016/j.ajhg.2018.10.016 PMID:30665704 (CILD41) 著者 Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabert L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE タイトル Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. 雑誌 Am J Hum Genet 104:229-245 (2019) DOI:10.1016/j.ajhg.2018.12.009 PMID:25048963 (CILD42) 著者 Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H タイトル MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 雑誌 Nat Commun 5:4418 (2014) DOI:10.1038/ncomms5418 PMID:31630787 (CILD43) 著者 Wallmeier J, Frank D, Shoemark A, Nothe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmuller J, Krenz H, Woste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H タイトル De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 雑誌 Am J Hum Genet 105:1030-1039 (2019) DOI:10.1016/j.ajhg.2019.09.022 PMID:31959991 (CILD44) 著者 Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM タイトル A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. 雑誌 Nat Med 26:244-251 (2020) DOI:10.1038/s41591-019-0730-x PMID:31978331 (CILD45) 著者 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, Toure A, Mitchell V, Amselem S, Legendre M タイトル TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. 雑誌 Am J Hum Genet 106:153-169 (2020) DOI:10.1016/j.ajhg.2019.12.010 PMID:28543983 (CILD46) 著者 Edelbusch C, Cindric S, Dougherty GW, Loges NT, Olbrich H, Rivlin J, Wallmeier J, Pennekamp P, Amirav I, Omran H タイトル Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 雑誌 Hum Mutat 38:964-969 (2017) DOI:10.1002/humu.23261 PMID:34077761 (CILD47) 著者 Wallmeier J, Bracht D, Alsaif HS, Dougherty GW, Olbrich H, Cindric S, Dzietko M, Heyer C, Teig N, Thiels C, Faqeih E, Al-Hashim A, Khan S, Mogarri I, Almannai M, Al Otaibi W, Alkuraya FS, Koerner-Rettberg C, Omran H タイトル Mutations in TP73 cause impaired mucociliary clearance and lissencephaly. 雑誌 Am J Hum Genet 108:1318-1329 (2021) DOI:10.1016/j.ajhg.2021.05.002 PMID:32185794 (CILD48) 著者 Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS タイトル A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. 雑誌 Clin Genet 98:64-68 (2020) DOI:10.1111/cge.13742 PMID:32555313 (CILD49) 著者 Sha Y, Wei X, Ding L, Ji Z, Mei L, Huang X, Su Z, Wang W, Zhang X, Lin S タイトル Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. 雑誌 J Hum Genet 65:961-969 (2020) DOI:10.1038/s10038-020-0790-2 PMID:34476482 (CILD50) 著者 Wei X, Sha Y, Wei Z, Zhu X, He F, Zhang X, Liu W, Wang Y, Lu Z タイトル Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. 雑誌 Acta Biochim Biophys Sin (Shanghai) 53:1300-1309 (2021) DOI:10.1093/abbs/gmab113 PMID:33389130 (CILD51) 著者 Guo T, Tu CF, Yang DH, Ding SZ, Lei C, Wang RC, Liu L, Kang X, Shen XQ, Yang YF, Tan ZP, Tan YQ, Luo H タイトル Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia. 雑誌 Hum Genet 140:761-773 (2021) DOI:10.1007/s00439-020-02241-4 |